Canonical Allele Identifier: CA2618855800

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912332-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912332C>G , CM000674.2:g.51912332C>G	GRCh38
NC_000012.11:g.52306116C>G , CM000674.1:g.52306116C>G	GRCh37
NC_000012.10:g.50592383C>G	NCBI36
NG_009549.1:g.9915C>G , LRG_543:g.9915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-101C>G	ENSP00000446724.2:n.-101C>G
ENST00000551576.6:c.-5-138C>G	ENSP00000455848.2:n.-5-138C>G
ENST00000552678.2:c.-5-138C>G	ENSP00000457394.2:n.-5-138C>G
ENST00000388922.9:c.-5-138C>G MANE Select	ENSP00000373574.4:n.-5-138C>G
ENST00000388922.8:c.-5-138C>G	ENSP00000373574.4:n.-5-138C>G
ENST00000547400.5:c.-101C>G	ENSP00000446724.1:n.-101C>G
ENST00000550683.5:c.-101C>G	ENSP00000447884.1:n.-101C>G
ENST00000551576.5:c.-5-138C>G	ENSP00000455848.1:n.-5-138C>G
NM_000020.2:c.-5-138C>G , LRG_543t1:c.-5-138C>G	NP_000011.2:n.-5-138C>G
NM_001077401.1:c.-143C>G	NP_001070869.1:n.-143C>G
XM_005269235.2:c.-5-138C>G	XP_005269292.1:n.-5-138C>G
NM_000020.3:c.-5-138C>G MANE Select	NP_000011.2:n.-5-138C>G