Canonical Allele Identifier: CA384898323

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52307360G>A (hg19) ; chr12:g.51913576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913576G>A , CM000674.2:g.51913576G>A	GRCh38
NC_000012.11:g.52307360G>A , CM000674.1:g.52307360G>A	GRCh37
NC_000012.10:g.50593627G>A	NCBI36
NG_009549.1:g.11159G>A , LRG_543:g.11159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+226G>A	ENSP00000446724.2:n.355+226G>A
ENST00000551576.6:c.331G>A	ENSP00000455848.2:p.Glu111Lys
ENST00000552678.2:c.331G>A	ENSP00000457394.2:p.Glu111Lys
ENST00000388922.9:c.331G>A MANE Select	ENSP00000373574.4:p.Glu111Lys
ENST00000388922.8:c.331G>A	ENSP00000373574.4:p.Glu111Lys
ENST00000419526.6:c.104-863G>A	ENSP00000392492.2:n.104-863G>A
ENST00000547400.5:c.355+226G>A	ENSP00000446724.1:n.355+226G>A
ENST00000550683.5:c.373G>A	ENSP00000447884.1:p.Glu125Lys
NM_000020.2:c.331G>A , LRG_543t1:c.331G>A	NP_000011.2:p.Glu111Lys
NM_001077401.1:c.331G>A	NP_001070869.1:p.Glu111Lys
XM_005269235.2:c.331G>A	XP_005269292.1:p.Glu111Lys
XM_011539008.1:c.355+226G>A	XP_011537310.1:n.355+226G>A
XM_024449279.1:c.-359G>A	XP_024305047.1:n.-359G>A
NM_000020.3:c.331G>A MANE Select	NP_000011.2:p.Glu111Lys
NM_001077401.2:c.331G>A	NP_001070869.1:p.Glu111Lys