Transcript: ENST00000483876.1 COL17A1-004

Description

collagen, type XVII, alpha 1 [Source:HGNC Symbol;Acc:2194]

Gene Synonyms

BA16H23.2, BP180, BPA-2, BPAG2, LAD-1

Location

Chromosome 10: 105,830,219-105,840,412 reverse strand.

About this transcript

This transcript has 9 exons, is associated with 4303 variant alleles and maps to 178 oligo probes.

Gene

This transcript is a product of gene ENSG00000065618.12 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000353479.5	COL17A1-001	5734	1497aa	ENSP00000340937.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7554	Q9UMD9	NM_000494.3	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000369733.3	COL17A1-003	5488	1415aa	ENSP00000358748.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9UMD9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000393211.3	COL17A1-007	1610	417aa	ENSP00000376905.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A2A2Y8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000433822.1	COL17A1-002	537	66aa	ENSP00000388832.1	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,
ENST00000480127.1	COL17A1-006	420	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000488320.1	COL17A1-005	626	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000483876.1	COL17A1-004	622	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 9, Coding exons: 0, Transcript length: 622 bps,

Version

ENST00000483876.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000050184 (version 1)

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Transcript: ENST00000483876.1 COL17A1-004

Summary