Canonical Allele Identifier: CA383968938

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 536831
• ClinVar RCV Id: RCV000645508 ; RCV002388103
• dbSNP Id: rs1555085517
• MyVariant Identifiers: chr12:g.12870916A>C (hg19) ; chr12:g.12717982A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717982A>C , CM000674.2:g.12717982A>C	GRCh38
NC_000012.11:g.12870916A>C , CM000674.1:g.12870916A>C	GRCh37
NC_000012.10:g.12762183A>C	NCBI36
NG_016341.1:g.5615A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.143A>C	ENSP00000507272.1:p.His48Pro
ENST00000682620.1:n.1631-843A>C
ENST00000684771.1:n.585-843A>C
ENST00000228872.9:c.143A>C MANE Select	ENSP00000228872.4:p.His48Pro
ENST00000228872.8:c.143A>C	ENSP00000228872.4:p.His48Pro
ENST00000396340.1:c.143A>C	ENSP00000379629.1:p.His48Pro
ENST00000442489.1:c.122A>C	ENSP00000407597.1:p.His41Pro
ENST00000477087.1:n.155-843A>C
NM_004064.4:c.143A>C	NP_004055.1:p.His48Pro
NM_004064.5:c.143A>C MANE Select	NP_004055.1:p.His48Pro