Canonical Allele Identifier: CA383969136

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1777645
• ClinVar RCV Id: RCV002403966
• dbSNP Id: rs1465844938
• MyVariant Identifiers: chr12:g.12870939A>T (hg19) ; chr12:g.12718005A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718005A>T , CM000674.2:g.12718005A>T	GRCh38
NC_000012.11:g.12870939A>T , CM000674.1:g.12870939A>T	GRCh37
NC_000012.10:g.12762206A>T	NCBI36
NG_016341.1:g.5638A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.166A>T	ENSP00000507272.1:p.Ser56Cys
ENST00000682620.1:n.1631-820A>T
ENST00000684771.1:n.585-820A>T
ENST00000228872.9:c.166A>T MANE Select	ENSP00000228872.4:p.Ser56Cys
ENST00000228872.8:c.166A>T	ENSP00000228872.4:p.Ser56Cys
ENST00000396340.1:c.166A>T	ENSP00000379629.1:p.Ser56Cys
ENST00000442489.1:c.145A>T	ENSP00000407597.1:p.Ser49Cys
ENST00000477087.1:n.155-820A>T
NM_004064.4:c.166A>T	NP_004055.1:p.Ser56Cys
NM_004064.5:c.166A>T MANE Select	NP_004055.1:p.Ser56Cys