Canonical Allele Identifier: CA383970253

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1061092
• ClinVar RCV Id: RCV001370610
• dbSNP Id: rs2136356180
• MyVariant Identifiers: chr12:g.12871104G>A (hg19) ; chr12:g.12718170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718170G>A , CM000674.2:g.12718170G>A	GRCh38
NC_000012.11:g.12871104G>A , CM000674.1:g.12871104G>A	GRCh37
NC_000012.10:g.12762371G>A	NCBI36
NG_016341.1:g.5803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.331G>A	ENSP00000507272.1:p.Gly111Arg
ENST00000682620.1:n.1631-655G>A
ENST00000684771.1:n.585-655G>A
ENST00000228872.9:c.331G>A MANE Select	ENSP00000228872.4:p.Gly111Arg
ENST00000228872.8:c.331G>A	ENSP00000228872.4:p.Gly111Arg
ENST00000396340.1:c.331G>A	ENSP00000379629.1:p.Gly111Arg
ENST00000442489.1:c.193+117G>A	ENSP00000407597.1:n.193+117G>A
ENST00000477087.1:n.155-655G>A
NM_004064.4:c.331G>A	NP_004055.1:p.Gly111Arg
NM_004064.5:c.331G>A MANE Select	NP_004055.1:p.Gly111Arg