Canonical Allele Identifier: CA384901722

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309264A>T (hg19) ; chr12:g.51915480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915480A>T , CM000674.2:g.51915480A>T	GRCh38
NC_000012.11:g.52309264A>T , CM000674.1:g.52309264A>T	GRCh37
NC_000012.10:g.50595531A>T	NCBI36
NG_009549.1:g.13063A>T , LRG_543:g.13063A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.758A>T	ENSP00000446724.2:p.Gln253Leu
ENST00000551576.6:c.1028A>T	ENSP00000455848.2:p.Gln343Leu
ENST00000552678.2:c.1028A>T	ENSP00000457394.2:p.Gln343Leu
ENST00000388922.9:c.1028A>T MANE Select	ENSP00000373574.4:p.Gln343Leu
ENST00000388922.8:c.1028A>T	ENSP00000373574.4:p.Gln343Leu
ENST00000419526.6:c.506A>T	ENSP00000392492.2:p.Gln169Leu
ENST00000550683.5:c.1070A>T	ENSP00000447884.1:p.Gln357Leu
ENST00000552678.1:c.33A>T
NM_000020.2:c.1028A>T , LRG_543t1:c.1028A>T	NP_000011.2:p.Gln343Leu
NM_001077401.1:c.1028A>T	NP_001070869.1:p.Gln343Leu
XM_005269235.2:c.1028A>T	XP_005269292.1:p.Gln343Leu
XM_011539008.1:c.758A>T	XP_011537310.1:p.Gln253Leu
XM_024449279.1:c.239A>T	XP_024305047.1:p.Gln80Leu
NM_000020.3:c.1028A>T MANE Select	NP_000011.2:p.Gln343Leu
NM_001077401.2:c.1028A>T	NP_001070869.1:p.Gln343Leu