Canonical Allele Identifier: CA383969080
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 937318
ClinVar RCV Id: RCV001206301
dbSNP Id: rs1946489999
MyVariant Identifiers: chr12:g.12870931A>G (hg19) chr12:g.12717997A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717997A>G , CM000674.2:g.12717997A>G GRCh38
NC_000012.11:g.12870931A>G , CM000674.1:g.12870931A>G GRCh37
NC_000012.10:g.12762198A>G NCBI36
NG_016341.1:g.5630A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.158A>G ENSP00000507272.1:p.Glu53Gly
ENST00000682620.1:n.1631-828A>G
ENST00000684771.1:n.585-828A>G
ENST00000228872.9:c.158A>G MANE Select ENSP00000228872.4:p.Glu53Gly
ENST00000228872.8:c.158A>G ENSP00000228872.4:p.Glu53Gly
ENST00000396340.1:c.158A>G ENSP00000379629.1:p.Glu53Gly
ENST00000442489.1:c.137A>G ENSP00000407597.1:p.Glu46Gly
ENST00000477087.1:n.155-828A>G
NM_004064.4:c.158A>G NP_004055.1:p.Glu53Gly
NM_004064.5:c.158A>G MANE Select NP_004055.1:p.Glu53Gly
Search 100 bp 5'
Search 100 bp 3'