Canonical Allele Identifier: CA384905343

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314563G>T (hg19) ; chr12:g.51920779G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920779G>T , CM000674.2:g.51920779G>T	GRCh38
NC_000012.11:g.52314563G>T , CM000674.1:g.52314563G>T	GRCh37
NC_000012.10:g.50600830G>T	NCBI36
NG_009549.1:g.18362G>T , LRG_543:g.18362G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1128G>T	ENSP00000446724.2:p.Gln376His
ENST00000551576.6:c.1398G>T	ENSP00000455848.2:p.Gln466His
ENST00000388922.9:c.1398G>T MANE Select	ENSP00000373574.4:p.Gln466His
ENST00000388922.8:c.1398G>T	ENSP00000373574.4:p.Gln466His
ENST00000419526.6:c.876G>T	ENSP00000392492.2:p.Gln292His
ENST00000550683.5:c.1440G>T	ENSP00000447884.1:p.Gln480His
NM_000020.2:c.1398G>T , LRG_543t1:c.1398G>T	NP_000011.2:p.Gln466His
NM_001077401.1:c.1398G>T	NP_001070869.1:p.Gln466His
XM_005269235.2:c.1398G>T	XP_005269292.1:p.Gln466His
XM_011539008.1:c.1128G>T	XP_011537310.1:p.Gln376His
XM_024449279.1:c.609G>T	XP_024305047.1:p.Gln203His
NM_000020.3:c.1398G>T MANE Select	NP_000011.2:p.Gln466His
NM_001077401.2:c.1398G>T	NP_001070869.1:p.Gln466His