Canonical Allele Identifier: CA6572934

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426012
• ClinVar RCV Id: RCV000488472 ; RCV000527139
• dbSNP Id: rs753792569
• ExAC: 12:52307768 A / C
• gnomAD v2: 12-52307768-A-C
• gnomAD v3: 12-51913984-A-C
• gnomAD v4: 12-51913984-A-C
• MyVariant Identifiers: chr12:g.52307768A>C (hg19) ; chr12:g.51913984A>C (hg38)
• PubMed: PMID:14684682 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913984A>C , CM000674.2:g.51913984A>C	GRCh38
NC_000012.11:g.52307768A>C , CM000674.1:g.52307768A>C	GRCh37
NC_000012.10:g.50594035A>C	NCBI36
NG_009549.1:g.11567A>C , LRG_543:g.11567A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-455A>C	ENSP00000446724.2:n.356-455A>C
ENST00000551576.6:c.536A>C	ENSP00000455848.2:p.Asp179Ala
ENST00000552678.2:c.536A>C	ENSP00000457394.2:p.Asp179Ala
ENST00000388922.9:c.536A>C MANE Select	ENSP00000373574.4:p.Asp179Ala
ENST00000388922.8:c.536A>C	ENSP00000373574.4:p.Asp179Ala
ENST00000419526.6:c.104-455A>C	ENSP00000392492.2:n.104-455A>C
ENST00000547400.5:c.356-455A>C	ENSP00000446724.1:n.356-455A>C
ENST00000550683.5:c.578A>C	ENSP00000447884.1:p.Asp193Ala
NM_000020.2:c.536A>C , LRG_543t1:c.536A>C	NP_000011.2:p.Asp179Ala
NM_001077401.1:c.536A>C	NP_001070869.1:p.Asp179Ala
XM_005269235.2:c.536A>C	XP_005269292.1:p.Asp179Ala
XM_011539008.1:c.356-455A>C	XP_011537310.1:n.356-455A>C
XM_024449279.1:c.-165+214A>C	XP_024305047.1:n.-165+214A>C
NM_000020.3:c.536A>C MANE Select	NP_000011.2:p.Asp179Ala
NM_001077401.2:c.536A>C	NP_001070869.1:p.Asp179Ala