Canonical Allele Identifier: CA6457413

Gene: CDKN1B

Linked Data

• dbSNP Id: rs770564585
• ExAC: 12:12870985 A / T
• MyVariant Identifiers: chr12:g.12870985A>T (hg19) ; chr12:g.12718051A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718051A>T , CM000674.2:g.12718051A>T	GRCh38
NC_000012.11:g.12870985A>T , CM000674.1:g.12870985A>T	GRCh37
NC_000012.10:g.12762252A>T	NCBI36
NG_016341.1:g.5684A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.212A>T	ENSP00000507272.1:p.Glu71Val
ENST00000682620.1:n.1631-774A>T
ENST00000684771.1:n.585-774A>T
ENST00000228872.9:c.212A>T MANE Select	ENSP00000228872.4:p.Glu71Val
ENST00000228872.8:c.212A>T	ENSP00000228872.4:p.Glu71Val
ENST00000396340.1:c.212A>T	ENSP00000379629.1:p.Glu71Val
ENST00000442489.1:c.191A>T	ENSP00000407597.1:p.Glu64Val
ENST00000477087.1:n.155-774A>T
NM_004064.4:c.212A>T	NP_004055.1:p.Glu71Val
NM_004064.5:c.212A>T MANE Select	NP_004055.1:p.Glu71Val