Canonical Allele Identifier: CA2618855815

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912354-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912354C>A , CM000674.2:g.51912354C>A	GRCh38
NC_000012.11:g.52306138C>A , CM000674.1:g.52306138C>A	GRCh37
NC_000012.10:g.50592405C>A	NCBI36
NG_009549.1:g.9937C>A , LRG_543:g.9937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-79C>A	ENSP00000446724.2:n.-79C>A
ENST00000551576.6:c.-5-116C>A	ENSP00000455848.2:n.-5-116C>A
ENST00000552678.2:c.-5-116C>A	ENSP00000457394.2:n.-5-116C>A
ENST00000388922.9:c.-5-116C>A MANE Select	ENSP00000373574.4:n.-5-116C>A
ENST00000388922.8:c.-5-116C>A	ENSP00000373574.4:n.-5-116C>A
ENST00000547400.5:c.-79C>A	ENSP00000446724.1:n.-79C>A
ENST00000550683.5:c.-79C>A	ENSP00000447884.1:n.-79C>A
ENST00000551576.5:c.-5-116C>A	ENSP00000455848.1:n.-5-116C>A
NM_000020.2:c.-5-116C>A , LRG_543t1:c.-5-116C>A	NP_000011.2:n.-5-116C>A
NM_001077401.1:c.-121C>A	NP_001070869.1:n.-121C>A
XM_005269235.2:c.-5-116C>A	XP_005269292.1:n.-5-116C>A
XM_011539008.1:c.-79C>A	XP_011537310.1:n.-79C>A
NM_000020.3:c.-5-116C>A MANE Select	NP_000011.2:n.-5-116C>A