Canonical Allele Identifier: CA6572906

Gene: ACVRL1

Linked Data

• dbSNP Id: rs776976385
• ExAC: 12:52307479 G / T
• gnomAD v2: 12-52307479-G-T
• gnomAD v4: 12-51913695-G-T
• MyVariant Identifiers: chr12:g.52307479G>T (hg19) ; chr12:g.51913695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913695G>T , CM000674.2:g.51913695G>T	GRCh38
NC_000012.11:g.52307479G>T , CM000674.1:g.52307479G>T	GRCh37
NC_000012.10:g.50593746G>T	NCBI36
NG_009549.1:g.11278G>T , LRG_543:g.11278G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+345G>T	ENSP00000446724.2:n.355+345G>T
ENST00000551576.6:c.450G>T	ENSP00000455848.2:p.Gln150His
ENST00000552678.2:c.450G>T	ENSP00000457394.2:p.Gln150His
ENST00000388922.9:c.450G>T MANE Select	ENSP00000373574.4:p.Gln150His
ENST00000388922.8:c.450G>T	ENSP00000373574.4:p.Gln150His
ENST00000419526.6:c.104-744G>T	ENSP00000392492.2:n.104-744G>T
ENST00000547400.5:c.355+345G>T	ENSP00000446724.1:n.355+345G>T
ENST00000550683.5:c.492G>T	ENSP00000447884.1:p.Gln164His
NM_000020.2:c.450G>T , LRG_543t1:c.450G>T	NP_000011.2:p.Gln150His
NM_001077401.1:c.450G>T	NP_001070869.1:p.Gln150His
XM_005269235.2:c.450G>T	XP_005269292.1:p.Gln150His
XM_011539008.1:c.355+345G>T	XP_011537310.1:n.355+345G>T
XM_024449279.1:c.-240G>T	XP_024305047.1:n.-240G>T
NM_000020.3:c.450G>T MANE Select	NP_000011.2:p.Gln150His
NM_001077401.2:c.450G>T	NP_001070869.1:p.Gln150His