Canonical Allele Identifier: CA689767235

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1182875277
• gnomAD v3: 12-51916248-T-C
• gnomAD v4: 12-51916248-T-C
• MyVariant Identifiers: chr12:g.52310032T>C (hg19) ; chr12:g.51916248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916248T>C , CM000674.2:g.51916248T>C	GRCh38
NC_000012.11:g.52310032T>C , CM000674.1:g.52310032T>C	GRCh37
NC_000012.10:g.50596299T>C	NCBI36
NG_009549.1:g.13831T>C , LRG_543:g.13831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.976+15T>C	ENSP00000446724.2:n.976+15T>C
ENST00000551576.6:c.1246+15T>C	ENSP00000455848.2:n.1246+15T>C
ENST00000552678.2:c.1246+15T>C	ENSP00000457394.2:n.1246+15T>C
ENST00000388922.9:c.1246+15T>C MANE Select	ENSP00000373574.4:n.1246+15T>C
ENST00000388922.8:c.1246+15T>C	ENSP00000373574.4:n.1246+15T>C
ENST00000419526.6:c.724+15T>C	ENSP00000392492.2:n.724+15T>C
ENST00000547632.1:n.521+15T>C
ENST00000550683.5:c.1288+15T>C	ENSP00000447884.1:n.1288+15T>C
ENST00000552678.1:c.251+15T>C
NM_000020.2:c.1246+15T>C , LRG_543t1:c.1246+15T>C	NP_000011.2:n.1246+15T>C
NM_001077401.1:c.1246+15T>C	NP_001070869.1:n.1246+15T>C
XM_005269235.2:c.1246+15T>C	XP_005269292.1:n.1246+15T>C
XM_011539008.1:c.976+15T>C	XP_011537310.1:n.976+15T>C
XM_024449279.1:c.457+15T>C	XP_024305047.1:n.457+15T>C
NM_000020.3:c.1246+15T>C MANE Select	NP_000011.2:n.1246+15T>C
NM_001077401.2:c.1246+15T>C	NP_001070869.1:n.1246+15T>C