Gene: LMNA ENSG00000160789

Description

lamin A/C [Source:HGNC Symbol;Acc:6636]

Gene Synonyms

CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1

Location

Chromosome 1: 156,052,364-156,109,880 forward strand.

GRCh37:CM000663.1

About this gene

This gene has 26 transcripts (splice variants), 9 paralogues and is associated with 93 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000368300.4	LMNA-001	3190	664aa	ENSP00000357283.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1129	P02545 Q5I6Y5	NM_170707.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000347559.2	LMNA-201	3135	634aa	ENSP00000292304.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		P02545 Q5I6Y5	NM_170708.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000368301.2	LMNA-002	2461	572aa	ENSP00000357284.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1131	B4DFR3 P02545 Q5I6Y5	NM_001282625.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000368299.3	LMNA-004	2253	614aa	ENSP00000357282.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5I6Y5	NM_001282626.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000361308.4	LMNA-202	2069	572aa	ENSP00000355292.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1131	B4DFR3 P02545 Q5I6Y5	NM_005572.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000473598.2	LMNA-006	2015	565aa	ENSP00000421821.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000448611.2	LMNA-017	1943	574aa	ENSP00000395597.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS58038	P02545	NM_001257374.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000368297.1	LMNA-007	1679	491aa	ENSP00000357280.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DFR3 D6RB20 Q5TCI8	NM_001282624.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000392353.3	LMNA-203	1577	491aa	ENSP00000376164.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DFR3 D6RB20 Q5TCI8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000508500.1	LMNA-020	848	260aa	ENSP00000424977.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		P02545	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000504687.1	LMNA-028	546	182aa	ENSP00000426535.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YAB0	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000515459.1	LMNA-027	757	38aa	ENSP00000424518.1	Nonsense mediated decay		D6RB20	-	-
ENST00000496738.1	LMNA-005	2405	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000459904.1	LMNA-015	916	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000469565.2	LMNA-025	591	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000502751.1	LMNA-021	570	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000515711.1	LMNA-022	569	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000470199.2	LMNA-023	551	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000502357.1	LMNA-026	537	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000470835.1	LMNA-013	472	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000495341.1	LMNA-010	394	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000478063.2	LMNA-024	285	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000368298.2	LMNA-018	1475	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000498722.2	LMNA-019	1348	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000506981.1	LMNA-030	576	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000515824.1	LMNA-029	393	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: LMNA ENSG00000160789

Summary