Canonical Allele Identifier: CA383970527
Gene: CDKN1B HGNC NCBI

Linked Data

dbSNP Id: rs749978498

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718219A>C , CM000674.2:g.12718219A>C GRCh38
NC_000012.11:g.12871153A>C , CM000674.1:g.12871153A>C GRCh37
NC_000012.10:g.12762420A>C NCBI36
NG_016341.1:g.5852A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.380A>C ENSP00000507272.1:p.Asp127Ala
ENST00000682620.1:n.1631-606A>C
ENST00000684771.1:n.585-606A>C
ENST00000228872.9:c.380A>C MANE Select ENSP00000228872.4:p.Asp127Ala
ENST00000228872.8:c.380A>C ENSP00000228872.4:p.Asp127Ala
ENST00000396340.1:c.380A>C ENSP00000379629.1:p.Asp127Ala
ENST00000442489.1:c.193+166A>C ENSP00000407597.1:n.193+166A>C
ENST00000477087.1:n.155-606A>C
NM_004064.4:c.380A>C NP_004055.1:p.Asp127Ala
NM_004064.5:c.380A>C MANE Select NP_004055.1:p.Asp127Ala