Canonical Allele Identifier: CA689762831

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1700159
• gnomAD v3: 12-51912002-C-G
• gnomAD v4: 12-51912002-C-G
• MyVariant Identifiers: chr12:g.52305786C>G (hg19) ; chr12:g.51912002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912002C>G , CM000674.2:g.51912002C>G	GRCh38
NC_000012.11:g.52305786C>G , CM000674.1:g.52305786C>G	GRCh37
NC_000012.10:g.50592053C>G	NCBI36
NG_009549.1:g.9585C>G , LRG_543:g.9585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-468C>G	ENSP00000455848.2:n.-5-468C>G
ENST00000552678.2:c.-5-468C>G	ENSP00000457394.2:n.-5-468C>G
ENST00000388922.9:c.-5-468C>G MANE Select	ENSP00000373574.4:n.-5-468C>G
ENST00000388922.8:c.-5-468C>G	ENSP00000373574.4:n.-5-468C>G
ENST00000551576.5:c.-5-468C>G	ENSP00000455848.1:n.-5-468C>G
NM_000020.2:c.-5-468C>G , LRG_543t1:c.-5-468C>G	NP_000011.2:n.-5-468C>G
XM_005269235.2:c.-5-468C>G	XP_005269292.1:n.-5-468C>G
NM_000020.3:c.-5-468C>G MANE Select	NP_000011.2:n.-5-468C>G