Canonical Allele Identifier: CA236364091

Gene: ACVRL1

Linked Data

• dbSNP Id: rs863223411
• gnomAD v2: 12-52309156-C-T
• gnomAD v4: 12-51915372-C-T
• MyVariant Identifiers: chr12:g.52309156C>T (hg19) ; chr12:g.51915372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915372C>T , CM000674.2:g.51915372C>T	GRCh38
NC_000012.11:g.52309156C>T , CM000674.1:g.52309156C>T	GRCh37
NC_000012.10:g.50595423C>T	NCBI36
NG_009549.1:g.12955C>T , LRG_543:g.12955C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.650C>T	ENSP00000446724.2:p.Ala217Val
ENST00000551576.6:c.920C>T	ENSP00000455848.2:p.Ala307Val
ENST00000552678.2:c.920C>T	ENSP00000457394.2:p.Ala307Val
ENST00000388922.9:c.920C>T MANE Select	ENSP00000373574.4:p.Ala307Val
ENST00000388922.8:c.920C>T	ENSP00000373574.4:p.Ala307Val
ENST00000419526.6:c.398C>T	ENSP00000392492.2:p.Ala133Val
ENST00000550683.5:c.962C>T	ENSP00000447884.1:p.Ala321Val
NM_000020.2:c.920C>T , LRG_543t1:c.920C>T	NP_000011.2:p.Ala307Val
NM_001077401.1:c.920C>T	NP_001070869.1:p.Ala307Val
XM_005269235.2:c.920C>T	XP_005269292.1:p.Ala307Val
XM_011539008.1:c.650C>T	XP_011537310.1:p.Ala217Val
XM_024449279.1:c.131C>T	XP_024305047.1:p.Ala44Val
NM_000020.3:c.920C>T MANE Select	NP_000011.2:p.Ala307Val
NM_001077401.2:c.920C>T	NP_001070869.1:p.Ala307Val