Canonical Allele Identifier: CA236361087

Gene: ACVRL1

Linked Data

• dbSNP Id: rs547372053
• gnomAD v3: 12-51912358-C-T
• gnomAD v4: 12-51912358-C-T
• MyVariant Identifiers: chr12:g.52306142C>T (hg19) ; chr12:g.51912358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912358C>T , CM000674.2:g.51912358C>T	GRCh38
NC_000012.11:g.52306142C>T , CM000674.1:g.52306142C>T	GRCh37
NC_000012.10:g.50592409C>T	NCBI36
NG_009549.1:g.9941C>T , LRG_543:g.9941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-75C>T	ENSP00000446724.2:n.-75C>T
ENST00000551576.6:c.-5-112C>T	ENSP00000455848.2:n.-5-112C>T
ENST00000552678.2:c.-5-112C>T	ENSP00000457394.2:n.-5-112C>T
ENST00000388922.9:c.-5-112C>T MANE Select	ENSP00000373574.4:n.-5-112C>T
ENST00000388922.8:c.-5-112C>T	ENSP00000373574.4:n.-5-112C>T
ENST00000547400.5:c.-75C>T	ENSP00000446724.1:n.-75C>T
ENST00000550683.5:c.-75C>T	ENSP00000447884.1:n.-75C>T
ENST00000551576.5:c.-5-112C>T	ENSP00000455848.1:n.-5-112C>T
NM_000020.2:c.-5-112C>T , LRG_543t1:c.-5-112C>T	NP_000011.2:n.-5-112C>T
NM_001077401.1:c.-117C>T	NP_001070869.1:n.-117C>T
XM_005269235.2:c.-5-112C>T	XP_005269292.1:n.-5-112C>T
XM_011539008.1:c.-75C>T	XP_011537310.1:n.-75C>T
NM_000020.3:c.-5-112C>T MANE Select	NP_000011.2:n.-5-112C>T