Canonical Allele Identifier: CA383970082

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2828571
• ClinVar RCV Id: RCV003620953
• dbSNP Id: rs1946494282
• MyVariant Identifiers: chr12:g.12871066C>A (hg19) ; chr12:g.12718132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718132C>A , CM000674.2:g.12718132C>A	GRCh38
NC_000012.11:g.12871066C>A , CM000674.1:g.12871066C>A	GRCh37
NC_000012.10:g.12762333C>A	NCBI36
NG_016341.1:g.5765C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.293C>A	ENSP00000507272.1:p.Ala98Asp
ENST00000682620.1:n.1631-693C>A
ENST00000684771.1:n.585-693C>A
ENST00000228872.9:c.293C>A MANE Select	ENSP00000228872.4:p.Ala98Asp
ENST00000228872.8:c.293C>A	ENSP00000228872.4:p.Ala98Asp
ENST00000396340.1:c.293C>A	ENSP00000379629.1:p.Ala98Asp
ENST00000442489.1:c.193+79C>A	ENSP00000407597.1:n.193+79C>A
ENST00000477087.1:n.155-693C>A
NM_004064.4:c.293C>A	NP_004055.1:p.Ala98Asp
NM_004064.5:c.293C>A MANE Select	NP_004055.1:p.Ala98Asp