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
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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000419526.2	ACVRL1-003	1356	329aa	ENSP00000392492.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DUF0 E7EN07	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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