Canonical Allele Identifier: CA383970027

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1058263
• ClinVar RCV Id: RCV001367375
• dbSNP Id: rs2136356023
• MyVariant Identifiers: chr12:g.12871059A>G (hg19) ; chr12:g.12718125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718125A>G , CM000674.2:g.12718125A>G	GRCh38
NC_000012.11:g.12871059A>G , CM000674.1:g.12871059A>G	GRCh37
NC_000012.10:g.12762326A>G	NCBI36
NG_016341.1:g.5758A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.286A>G	ENSP00000507272.1:p.Lys96Glu
ENST00000682620.1:n.1631-700A>G
ENST00000684771.1:n.585-700A>G
ENST00000228872.9:c.286A>G MANE Select	ENSP00000228872.4:p.Lys96Glu
ENST00000228872.8:c.286A>G	ENSP00000228872.4:p.Lys96Glu
ENST00000396340.1:c.286A>G	ENSP00000379629.1:p.Lys96Glu
ENST00000442489.1:c.193+72A>G	ENSP00000407597.1:n.193+72A>G
ENST00000477087.1:n.155-700A>G
NM_004064.4:c.286A>G	NP_004055.1:p.Lys96Glu
NM_004064.5:c.286A>G MANE Select	NP_004055.1:p.Lys96Glu