Canonical Allele Identifier: CA605238803

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1382725107
• gnomAD v2: 12-52308967-C-A
• gnomAD v3: 12-51915183-C-A
• gnomAD v4: 12-51915183-C-A
• MyVariant Identifiers: chr12:g.52308967C>A (hg19) ; chr12:g.51915183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915183C>A , CM000674.2:g.51915183C>A	GRCh38
NC_000012.11:g.52308967C>A , CM000674.1:g.52308967C>A	GRCh37
NC_000012.10:g.50595234C>A	NCBI36
NG_009549.1:g.12766C>A , LRG_543:g.12766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.503-42C>A	ENSP00000446724.2:n.503-42C>A
ENST00000551576.6:c.773-42C>A	ENSP00000455848.2:n.773-42C>A
ENST00000552678.2:c.773-42C>A	ENSP00000457394.2:n.773-42C>A
ENST00000388922.9:c.773-42C>A MANE Select	ENSP00000373574.4:n.773-42C>A
ENST00000388922.8:c.773-42C>A	ENSP00000373574.4:n.773-42C>A
ENST00000419526.6:c.251-42C>A	ENSP00000392492.2:n.251-42C>A
ENST00000550683.5:c.815-42C>A	ENSP00000447884.1:n.815-42C>A
NM_000020.2:c.773-42C>A , LRG_543t1:c.773-42C>A	NP_000011.2:n.773-42C>A
NM_001077401.1:c.773-42C>A	NP_001070869.1:n.773-42C>A
XM_005269235.2:c.773-42C>A	XP_005269292.1:n.773-42C>A
XM_011539008.1:c.503-42C>A	XP_011537310.1:n.503-42C>A
XM_024449279.1:c.-17-42C>A	XP_024305047.1:n.-17-42C>A
NM_000020.3:c.773-42C>A MANE Select	NP_000011.2:n.773-42C>A
NM_001077401.2:c.773-42C>A	NP_001070869.1:n.773-42C>A