Canonical Allele Identifier: CA383970278
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1730696
ClinVar RCV Id: RCV002451705 RCV003619766
MyVariant Identifiers: chr12:g.12871109C>A (hg19) chr12:g.12718175C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718175C>A , CM000674.2:g.12718175C>A GRCh38
NC_000012.11:g.12871109C>A , CM000674.1:g.12871109C>A GRCh37
NC_000012.10:g.12762376C>A NCBI36
NG_016341.1:g.5808C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.336C>A ENSP00000507272.1:p.Ser112Arg
ENST00000682620.1:n.1631-650C>A
ENST00000684771.1:n.585-650C>A
ENST00000228872.9:c.336C>A MANE Select ENSP00000228872.4:p.Ser112Arg
ENST00000228872.8:c.336C>A ENSP00000228872.4:p.Ser112Arg
ENST00000396340.1:c.336C>A ENSP00000379629.1:p.Ser112Arg
ENST00000442489.1:c.193+122C>A ENSP00000407597.1:n.193+122C>A
ENST00000477087.1:n.155-650C>A
NM_004064.4:c.336C>A NP_004055.1:p.Ser112Arg
NM_004064.5:c.336C>A MANE Select NP_004055.1:p.Ser112Arg
Search 100 bp 5'
Search 100 bp 3'