Canonical Allele Identifier: CA478845899

Gene: CDKN1B

Linked Data

• gnomAD v4: 12-12718265-G-T
• MyVariant Identifiers: chr12:g.12871199G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718265G>T , CM000674.2:g.12718265G>T	GRCh38
NC_000012.11:g.12871199G>T , CM000674.1:g.12871199G>T	GRCh37
NC_000012.10:g.12762466G>T	NCBI36
NG_016341.1:g.5898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.426G>T	ENSP00000507272.1:p.Thr142=
ENST00000682620.1:n.1631-560G>T
ENST00000684771.1:n.585-560G>T
ENST00000228872.9:c.426G>T MANE Select	ENSP00000228872.4:p.Thr142=
ENST00000228872.8:c.426G>T	ENSP00000228872.4:p.Thr142=
ENST00000396340.1:c.426G>T	ENSP00000379629.1:p.Thr142=
ENST00000442489.1:c.193+212G>T	ENSP00000407597.1:n.193+212G>T
ENST00000477087.1:n.155-560G>T
NM_004064.4:c.426G>T	NP_004055.1:p.Thr142=
NM_004064.5:c.426G>T MANE Select	NP_004055.1:p.Thr142=