Canonical Allele Identifier: CA479816923

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920836-C-A
• MyVariant Identifiers: chr12:g.52314620C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920836C>A , CM000674.2:g.51920836C>A	GRCh38
NC_000012.11:g.52314620C>A , CM000674.1:g.52314620C>A	GRCh37
NC_000012.10:g.50600887C>A	NCBI36
NG_009549.1:g.18419C>A , LRG_543:g.18419C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1185C>A	ENSP00000446724.2:p.Ile395=
ENST00000551576.6:c.1455C>A	ENSP00000455848.2:p.Ile485=
ENST00000388922.9:c.1455C>A MANE Select	ENSP00000373574.4:p.Ile485=
ENST00000388922.8:c.1455C>A	ENSP00000373574.4:p.Ile485=
ENST00000419526.6:c.933C>A	ENSP00000392492.2:p.Ile311=
ENST00000550683.5:c.1497C>A	ENSP00000447884.1:p.Ile499=
NM_000020.2:c.1455C>A , LRG_543t1:c.1455C>A	NP_000011.2:p.Ile485=
NM_001077401.1:c.1455C>A	NP_001070869.1:p.Ile485=
XM_005269235.2:c.1455C>A	XP_005269292.1:p.Ile485=
XM_011539008.1:c.1185C>A	XP_011537310.1:p.Ile395=
XM_024449279.1:c.666C>A	XP_024305047.1:p.Ile222=
NM_000020.3:c.1455C>A MANE Select	NP_000011.2:p.Ile485=
NM_001077401.2:c.1455C>A	NP_001070869.1:p.Ile485=