Canonical Allele Identifier: CA383970828
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1740818
ClinVar RCV Id: RCV002328469
dbSNP Id: rs2136356581

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718285C>T , CM000674.2:g.12718285C>T GRCh38
NC_000012.11:g.12871219C>T , CM000674.1:g.12871219C>T GRCh37
NC_000012.10:g.12762486C>T NCBI36
NG_016341.1:g.5918C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.446C>T ENSP00000507272.1:p.Ala149Val
ENST00000682620.1:n.1631-540C>T
ENST00000684771.1:n.585-540C>T
ENST00000228872.9:c.446C>T MANE Select ENSP00000228872.4:p.Ala149Val
ENST00000228872.8:c.446C>T ENSP00000228872.4:p.Ala149Val
ENST00000396340.1:c.446C>T ENSP00000379629.1:p.Ala149Val
ENST00000442489.1:c.193+232C>T ENSP00000407597.1:n.193+232C>T
ENST00000477087.1:n.155-540C>T
NM_004064.4:c.446C>T NP_004055.1:p.Ala149Val
NM_004064.5:c.446C>T MANE Select NP_004055.1:p.Ala149Val