Canonical Allele Identifier: CA15735578
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1271094
ClinVar RCV Id: RCV001680615
dbSNP Id: rs1700159
gnomAD v2: 12-52305786-C-T
gnomAD v3: 12-51912002-C-T
gnomAD v4: 12-51912002-C-T
MyVariant Identifiers: chr12:g.52305786C>T (hg19) chr12:g.51912002C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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