Canonical Allele Identifier: CA383969803
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 657339
ClinVar RCV Id: RCV000813928
dbSNP Id: rs1592280992
MyVariant Identifiers: chr12:g.12871024T>A (hg19) chr12:g.12718090T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718090T>A , CM000674.2:g.12718090T>A GRCh38
NC_000012.11:g.12871024T>A , CM000674.1:g.12871024T>A GRCh37
NC_000012.10:g.12762291T>A NCBI36
NG_016341.1:g.5723T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.251T>A ENSP00000507272.1:p.Leu84Ter
ENST00000682620.1:n.1631-735T>A
ENST00000684771.1:n.585-735T>A
ENST00000228872.9:c.251T>A MANE Select ENSP00000228872.4:p.Leu84Ter
ENST00000228872.8:c.251T>A ENSP00000228872.4:p.Leu84Ter
ENST00000396340.1:c.251T>A ENSP00000379629.1:p.Leu84Ter
ENST00000442489.1:c.193+37T>A ENSP00000407597.1:n.193+37T>A
ENST00000477087.1:n.155-735T>A
NM_004064.4:c.251T>A NP_004055.1:p.Leu84Ter
NM_004064.5:c.251T>A MANE Select NP_004055.1:p.Leu84Ter
Search 100 bp 5'
Search 100 bp 3'