Canonical Allele Identifier: CA383969455

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1501026
• ClinVar RCV Id: RCV002042716
• dbSNP Id: rs867208075
• MyVariant Identifiers: chr12:g.12870972C>T (hg19) ; chr12:g.12718038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718038C>T , CM000674.2:g.12718038C>T	GRCh38
NC_000012.11:g.12870972C>T , CM000674.1:g.12870972C>T	GRCh37
NC_000012.10:g.12762239C>T	NCBI36
NG_016341.1:g.5671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.199C>T	ENSP00000507272.1:p.His67Tyr
ENST00000682620.1:n.1631-787C>T
ENST00000684771.1:n.585-787C>T
ENST00000228872.9:c.199C>T MANE Select	ENSP00000228872.4:p.His67Tyr
ENST00000228872.8:c.199C>T	ENSP00000228872.4:p.His67Tyr
ENST00000396340.1:c.199C>T	ENSP00000379629.1:p.His67Tyr
ENST00000442489.1:c.178C>T	ENSP00000407597.1:p.His60Tyr
ENST00000477087.1:n.155-787C>T
NM_004064.4:c.199C>T	NP_004055.1:p.His67Tyr
NM_004064.5:c.199C>T MANE Select	NP_004055.1:p.His67Tyr