Gene: ACVRL1 ENSG00000139567

Description

activin A receptor type II-like 1 [Source:HGNC Symbol;Acc:175]

Gene Synonyms

ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I

Location

Chromosome 12: 52,300,692-52,317,145 forward strand.

GRCh37:CM000674.1

About this gene

This gene has 8 transcripts (splice variants), 11 paralogues and is associated with 4 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000388922.4	ACVRL1-001	1971	503aa	ENSP00000373574.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31804	B4DUF0 D9IPD9 P37023	NM_000020.2	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,
ENST00000550683.1	ACVRL1-002	4121	517aa	ENSP00000447884.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DUF0 D9IPD9 G3V1W8	NM_001077401.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000419526.2	ACVRL1-003	1356	329aa	ENSP00000392492.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DUF0 E7EN07	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000552678.1	ACVRL1-008	609	163aa	ENSP00000457394.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000547400.1	ACVRL1-006	582	159aa	ENSP00000446724.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D9IPD9 F8W0N2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000551576.1	ACVRL1-005	557	89aa	ENSP00000455848.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D9IPD9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000550084.1	ACVRL1-009	398	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000547632.1	ACVRL1-007	857	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: ACVRL1 ENSG00000139567

Summary