Canonical Allele Identifier: CA383970202

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1728762
• ClinVar RCV Id: RCV002322937 ; RCV003775072
• dbSNP Id: rs2136356126
• COSMIC: COSM4487517
• MyVariant Identifiers: chr12:g.12871092C>T (hg19) ; chr12:g.12718158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718158C>T , CM000674.2:g.12718158C>T	GRCh38
NC_000012.11:g.12871092C>T , CM000674.1:g.12871092C>T	GRCh37
NC_000012.10:g.12762359C>T	NCBI36
NG_016341.1:g.5791C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.319C>T	ENSP00000507272.1:p.Gln107Ter
ENST00000682620.1:n.1631-667C>T
ENST00000684771.1:n.585-667C>T
ENST00000228872.9:c.319C>T MANE Select	ENSP00000228872.4:p.Gln107Ter
ENST00000228872.8:c.319C>T	ENSP00000228872.4:p.Gln107Ter
ENST00000396340.1:c.319C>T	ENSP00000379629.1:p.Gln107Ter
ENST00000442489.1:c.193+105C>T	ENSP00000407597.1:n.193+105C>T
ENST00000477087.1:n.155-667C>T
NM_004064.4:c.319C>T	NP_004055.1:p.Gln107Ter
NM_004064.5:c.319C>T MANE Select	NP_004055.1:p.Gln107Ter