Canonical Allele Identifier: CA383969175

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2585892
• ClinVar RCV Id: RCV003339038
• COSMIC: COSM5421248
• MyVariant Identifiers: chr12:g.12870942C>T (hg19) ; chr12:g.12718008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718008C>T , CM000674.2:g.12718008C>T	GRCh38
NC_000012.11:g.12870942C>T , CM000674.1:g.12870942C>T	GRCh37
NC_000012.10:g.12762209C>T	NCBI36
NG_016341.1:g.5641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.169C>T	ENSP00000507272.1:p.Gln57Ter
ENST00000682620.1:n.1631-817C>T
ENST00000684771.1:n.585-817C>T
ENST00000228872.9:c.169C>T MANE Select	ENSP00000228872.4:p.Gln57Ter
ENST00000228872.8:c.169C>T	ENSP00000228872.4:p.Gln57Ter
ENST00000396340.1:c.169C>T	ENSP00000379629.1:p.Gln57Ter
ENST00000442489.1:c.148C>T	ENSP00000407597.1:p.Gln50Ter
ENST00000477087.1:n.155-817C>T
NM_004064.4:c.169C>T	NP_004055.1:p.Gln57Ter
NM_004064.5:c.169C>T MANE Select	NP_004055.1:p.Gln57Ter