Canonical Allele Identifier: CA6573173

Gene: ACVRL1

Linked Data

• dbSNP Id: rs200459424
• ExAC: 12:52314571 G / C
• gnomAD v2: 12-52314571-G-C
• gnomAD v4: 12-51920787-G-C
• MyVariant Identifiers: chr12:g.52314571G>C (hg19) ; chr12:g.51920787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920787G>C , CM000674.2:g.51920787G>C	GRCh38
NC_000012.11:g.52314571G>C , CM000674.1:g.52314571G>C	GRCh37
NC_000012.10:g.50600838G>C	NCBI36
NG_009549.1:g.18370G>C , LRG_543:g.18370G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1136G>C	ENSP00000446724.2:p.Arg379Pro
ENST00000551576.6:c.1406G>C	ENSP00000455848.2:p.Arg469Pro
ENST00000388922.9:c.1406G>C MANE Select	ENSP00000373574.4:p.Arg469Pro
ENST00000388922.8:c.1406G>C	ENSP00000373574.4:p.Arg469Pro
ENST00000419526.6:c.884G>C	ENSP00000392492.2:p.Arg295Pro
ENST00000550683.5:c.1448G>C	ENSP00000447884.1:p.Arg483Pro
NM_000020.2:c.1406G>C , LRG_543t1:c.1406G>C	NP_000011.2:p.Arg469Pro
NM_001077401.1:c.1406G>C	NP_001070869.1:p.Arg469Pro
XM_005269235.2:c.1406G>C	XP_005269292.1:p.Arg469Pro
XM_011539008.1:c.1136G>C	XP_011537310.1:p.Arg379Pro
XM_024449279.1:c.617G>C	XP_024305047.1:p.Arg206Pro
NM_000020.3:c.1406G>C MANE Select	NP_000011.2:p.Arg469Pro
NM_001077401.2:c.1406G>C	NP_001070869.1:p.Arg469Pro