Canonical Allele Identifier: CA383968955
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1426813
ClinVar RCV Id: RCV001933481
dbSNP Id: rs2136355643

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717984T>G , CM000674.2:g.12717984T>G GRCh38
NC_000012.11:g.12870918T>G , CM000674.1:g.12870918T>G GRCh37
NC_000012.10:g.12762185T>G NCBI36
NG_016341.1:g.5617T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.145T>G ENSP00000507272.1:p.Cys49Gly
ENST00000682620.1:n.1631-841T>G
ENST00000684771.1:n.585-841T>G
ENST00000228872.9:c.145T>G MANE Select ENSP00000228872.4:p.Cys49Gly
ENST00000228872.8:c.145T>G ENSP00000228872.4:p.Cys49Gly
ENST00000396340.1:c.145T>G ENSP00000379629.1:p.Cys49Gly
ENST00000442489.1:c.124T>G ENSP00000407597.1:p.Cys42Gly
ENST00000477087.1:n.155-841T>G
NM_004064.4:c.145T>G NP_004055.1:p.Cys49Gly
NM_004064.5:c.145T>G MANE Select NP_004055.1:p.Cys49Gly