Canonical Allele Identifier: CA384900973

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309153C>A (hg19) ; chr12:g.51915369C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915369C>A , CM000674.2:g.51915369C>A	GRCh38
NC_000012.11:g.52309153C>A , CM000674.1:g.52309153C>A	GRCh37
NC_000012.10:g.50595420C>A	NCBI36
NG_009549.1:g.12952C>A , LRG_543:g.12952C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.647C>A	ENSP00000446724.2:p.Ala216Glu
ENST00000551576.6:c.917C>A	ENSP00000455848.2:p.Ala306Glu
ENST00000552678.2:c.917C>A	ENSP00000457394.2:p.Ala306Glu
ENST00000388922.9:c.917C>A MANE Select	ENSP00000373574.4:p.Ala306Glu
ENST00000388922.8:c.917C>A	ENSP00000373574.4:p.Ala306Glu
ENST00000419526.6:c.395C>A	ENSP00000392492.2:p.Ala132Glu
ENST00000550683.5:c.959C>A	ENSP00000447884.1:p.Ala320Glu
NM_000020.2:c.917C>A , LRG_543t1:c.917C>A	NP_000011.2:p.Ala306Glu
NM_001077401.1:c.917C>A	NP_001070869.1:p.Ala306Glu
XM_005269235.2:c.917C>A	XP_005269292.1:p.Ala306Glu
XM_011539008.1:c.647C>A	XP_011537310.1:p.Ala216Glu
XM_024449279.1:c.128C>A	XP_024305047.1:p.Ala43Glu
NM_000020.3:c.917C>A MANE Select	NP_000011.2:p.Ala306Glu
NM_001077401.2:c.917C>A	NP_001070869.1:p.Ala306Glu