Canonical Allele Identifier: CA383969415

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1377997
• ClinVar RCV Id: RCV001914499 ; RCV002422951
• dbSNP Id: rs1592280892
• MyVariant Identifiers: chr12:g.12870967A>T (hg19) ; chr12:g.12718033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718033A>T , CM000674.2:g.12718033A>T	GRCh38
NC_000012.11:g.12870967A>T , CM000674.1:g.12870967A>T	GRCh37
NC_000012.10:g.12762234A>T	NCBI36
NG_016341.1:g.5666A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.194A>T	ENSP00000507272.1:p.Gln65Leu
ENST00000682620.1:n.1631-792A>T
ENST00000684771.1:n.585-792A>T
ENST00000228872.9:c.194A>T MANE Select	ENSP00000228872.4:p.Gln65Leu
ENST00000228872.8:c.194A>T	ENSP00000228872.4:p.Gln65Leu
ENST00000396340.1:c.194A>T	ENSP00000379629.1:p.Gln65Leu
ENST00000442489.1:c.173A>T	ENSP00000407597.1:p.Gln58Leu
ENST00000477087.1:n.155-792A>T
NM_004064.4:c.194A>T	NP_004055.1:p.Gln65Leu
NM_004064.5:c.194A>T MANE Select	NP_004055.1:p.Gln65Leu