Canonical Allele Identifier: CA383969037

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2817479
• ClinVar RCV Id: RCV003620803
• COSMIC: COSM94063
• MyVariant Identifiers: chr12:g.12870929G>T (hg19) ; chr12:g.12717995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717995G>T , CM000674.2:g.12717995G>T	GRCh38
NC_000012.11:g.12870929G>T , CM000674.1:g.12870929G>T	GRCh37
NC_000012.10:g.12762196G>T	NCBI36
NG_016341.1:g.5628G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.156G>T	ENSP00000507272.1:p.Met52Ile
ENST00000682620.1:n.1631-830G>T
ENST00000684771.1:n.585-830G>T
ENST00000228872.9:c.156G>T MANE Select	ENSP00000228872.4:p.Met52Ile
ENST00000228872.8:c.156G>T	ENSP00000228872.4:p.Met52Ile
ENST00000396340.1:c.156G>T	ENSP00000379629.1:p.Met52Ile
ENST00000442489.1:c.135G>T	ENSP00000407597.1:p.Met45Ile
ENST00000477087.1:n.155-830G>T
NM_004064.4:c.156G>T	NP_004055.1:p.Met52Ile
NM_004064.5:c.156G>T MANE Select	NP_004055.1:p.Met52Ile