Canonical Allele Identifier: CA383969659

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2579973
• ClinVar RCV Id: RCV003328948 ; RCV003377948 ; RCV003410348
• gnomAD v4: 12-12718068-C-T
• MyVariant Identifiers: chr12:g.12871002C>T (hg19) ; chr12:g.12718068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718068C>T , CM000674.2:g.12718068C>T	GRCh38
NC_000012.11:g.12871002C>T , CM000674.1:g.12871002C>T	GRCh37
NC_000012.10:g.12762269C>T	NCBI36
NG_016341.1:g.5701C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.229C>T	ENSP00000507272.1:p.Gln77Ter
ENST00000682620.1:n.1631-757C>T
ENST00000684771.1:n.585-757C>T
ENST00000228872.9:c.229C>T MANE Select	ENSP00000228872.4:p.Gln77Ter
ENST00000228872.8:c.229C>T	ENSP00000228872.4:p.Gln77Ter
ENST00000396340.1:c.229C>T	ENSP00000379629.1:p.Gln77Ter
ENST00000442489.1:c.193+15C>T	ENSP00000407597.1:n.193+15C>T
ENST00000477087.1:n.155-757C>T
NM_004064.4:c.229C>T	NP_004055.1:p.Gln77Ter
NM_004064.5:c.229C>T MANE Select	NP_004055.1:p.Gln77Ter