Canonical Allele Identifier: CA383969507
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 858127
ClinVar RCV Id: RCV001063936 RCV003320801
dbSNP Id: rs1388968180
gnomAD v4: 12-12718044-C-G
MyVariant Identifiers: chr12:g.12870978C>G (hg19) chr12:g.12718044C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718044C>G , CM000674.2:g.12718044C>G GRCh38
NC_000012.11:g.12870978C>G , CM000674.1:g.12870978C>G GRCh37
NC_000012.10:g.12762245C>G NCBI36
NG_016341.1:g.5677C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.205C>G ENSP00000507272.1:p.Pro69Ala
ENST00000682620.1:n.1631-781C>G
ENST00000684771.1:n.585-781C>G
ENST00000228872.9:c.205C>G MANE Select ENSP00000228872.4:p.Pro69Ala
ENST00000228872.8:c.205C>G ENSP00000228872.4:p.Pro69Ala
ENST00000396340.1:c.205C>G ENSP00000379629.1:p.Pro69Ala
ENST00000442489.1:c.184C>G ENSP00000407597.1:p.Pro62Ala
ENST00000477087.1:n.155-781C>G
NM_004064.4:c.205C>G NP_004055.1:p.Pro69Ala
NM_004064.5:c.205C>G MANE Select NP_004055.1:p.Pro69Ala
Search 100 bp 5'
Search 100 bp 3'