Canonical Allele Identifier: CA480063158

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309055G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915271G>T , CM000674.2:g.51915271G>T	GRCh38
NC_000012.11:g.52309055G>T , CM000674.1:g.52309055G>T	GRCh37
NC_000012.10:g.50595322G>T	NCBI36
NG_009549.1:g.12854G>T , LRG_543:g.12854G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.549G>T	ENSP00000446724.2:p.Leu183=
ENST00000551576.6:c.819G>T	ENSP00000455848.2:p.Leu273=
ENST00000552678.2:c.819G>T	ENSP00000457394.2:p.Leu273=
ENST00000388922.9:c.819G>T MANE Select	ENSP00000373574.4:p.Leu273=
ENST00000388922.8:c.819G>T	ENSP00000373574.4:p.Leu273=
ENST00000419526.6:c.297G>T	ENSP00000392492.2:p.Leu99=
ENST00000550683.5:c.861G>T	ENSP00000447884.1:p.Leu287=
NM_000020.2:c.819G>T , LRG_543t1:c.819G>T	NP_000011.2:p.Leu273=
NM_001077401.1:c.819G>T	NP_001070869.1:p.Leu273=
XM_005269235.2:c.819G>T	XP_005269292.1:p.Leu273=
XM_011539008.1:c.549G>T	XP_011537310.1:p.Leu183=
XM_024449279.1:c.30G>T	XP_024305047.1:p.Leu10=
NM_000020.3:c.819G>T MANE Select	NP_000011.2:p.Leu273=
NM_001077401.2:c.819G>T	NP_001070869.1:p.Leu273=