Canonical Allele Identifier: CA383968517

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1419667
• ClinVar RCV Id: RCV001910531
• dbSNP Id: rs2136355531
• COSMIC: COSM4513762
• MyVariant Identifiers: chr12:g.12870867C>T (hg19) ; chr12:g.12717933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717933C>T , CM000674.2:g.12717933C>T	GRCh38
NC_000012.11:g.12870867C>T , CM000674.1:g.12870867C>T	GRCh37
NC_000012.10:g.12762134C>T	NCBI36
NG_016341.1:g.5566C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.94C>T	ENSP00000507272.1:p.Leu32Phe
ENST00000682620.1:n.1631-892C>T
ENST00000684771.1:n.585-892C>T
ENST00000228872.9:c.94C>T MANE Select	ENSP00000228872.4:p.Leu32Phe
ENST00000228872.8:c.94C>T	ENSP00000228872.4:p.Leu32Phe
ENST00000396340.1:c.94C>T	ENSP00000379629.1:p.Leu32Phe
ENST00000442489.1:c.73C>T	ENSP00000407597.1:p.Leu25Phe
ENST00000477087.1:n.155-892C>T
NM_004064.4:c.94C>T	NP_004055.1:p.Leu32Phe
NM_004064.5:c.94C>T MANE Select	NP_004055.1:p.Leu32Phe