Canonical Allele Identifier: CA479804493

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940749382
• gnomAD v4: 12-51913563-C-A
• MyVariant Identifiers: chr12:g.52307347C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913563C>A , CM000674.2:g.51913563C>A	GRCh38
NC_000012.11:g.52307347C>A , CM000674.1:g.52307347C>A	GRCh37
NC_000012.10:g.50593614C>A	NCBI36
NG_009549.1:g.11146C>A , LRG_543:g.11146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+213C>A	ENSP00000446724.2:n.355+213C>A
ENST00000551576.6:c.318C>A	ENSP00000455848.2:p.Thr106=
ENST00000552678.2:c.318C>A	ENSP00000457394.2:p.Thr106=
ENST00000388922.9:c.318C>A MANE Select	ENSP00000373574.4:p.Thr106=
ENST00000388922.8:c.318C>A	ENSP00000373574.4:p.Thr106=
ENST00000419526.6:c.104-876C>A	ENSP00000392492.2:n.104-876C>A
ENST00000547400.5:c.355+213C>A	ENSP00000446724.1:n.355+213C>A
ENST00000550683.5:c.360C>A	ENSP00000447884.1:p.Thr120=
NM_000020.2:c.318C>A , LRG_543t1:c.318C>A	NP_000011.2:p.Thr106=
NM_001077401.1:c.318C>A	NP_001070869.1:p.Thr106=
XM_005269235.2:c.318C>A	XP_005269292.1:p.Thr106=
XM_011539008.1:c.355+213C>A	XP_011537310.1:n.355+213C>A
XM_024449279.1:c.-372C>A	XP_024305047.1:n.-372C>A
NM_000020.3:c.318C>A MANE Select	NP_000011.2:p.Thr106=
NM_001077401.2:c.318C>A	NP_001070869.1:p.Thr106=