Canonical Allele Identifier: CA383970283

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 849159
• ClinVar RCV Id: RCV001053059
• dbSNP Id: rs1946495615
• MyVariant Identifiers: chr12:g.12871110C>A (hg19) ; chr12:g.12718176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718176C>A , CM000674.2:g.12718176C>A	GRCh38
NC_000012.11:g.12871110C>A , CM000674.1:g.12871110C>A	GRCh37
NC_000012.10:g.12762377C>A	NCBI36
NG_016341.1:g.5809C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.337C>A	ENSP00000507272.1:p.Arg113Ser
ENST00000682620.1:n.1631-649C>A
ENST00000684771.1:n.585-649C>A
ENST00000228872.9:c.337C>A MANE Select	ENSP00000228872.4:p.Arg113Ser
ENST00000228872.8:c.337C>A	ENSP00000228872.4:p.Arg113Ser
ENST00000396340.1:c.337C>A	ENSP00000379629.1:p.Arg113Ser
ENST00000442489.1:c.193+123C>A	ENSP00000407597.1:n.193+123C>A
ENST00000477087.1:n.155-649C>A
NM_004064.4:c.337C>A	NP_004055.1:p.Arg113Ser
NM_004064.5:c.337C>A MANE Select	NP_004055.1:p.Arg113Ser