Canonical Allele Identifier: CA383968675

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2024504
• ClinVar RCV Id: RCV002847740 ; RCV003167843
• MyVariant Identifiers: chr12:g.12870883A>G (hg19) ; chr12:g.12717949A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717949A>G , CM000674.2:g.12717949A>G	GRCh38
NC_000012.11:g.12870883A>G , CM000674.1:g.12870883A>G	GRCh37
NC_000012.10:g.12762150A>G	NCBI36
NG_016341.1:g.5582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.110A>G	ENSP00000507272.1:p.Asp37Gly
ENST00000682620.1:n.1631-876A>G
ENST00000684771.1:n.585-876A>G
ENST00000228872.9:c.110A>G MANE Select	ENSP00000228872.4:p.Asp37Gly
ENST00000228872.8:c.110A>G	ENSP00000228872.4:p.Asp37Gly
ENST00000396340.1:c.110A>G	ENSP00000379629.1:p.Asp37Gly
ENST00000442489.1:c.89A>G	ENSP00000407597.1:p.Asp30Gly
ENST00000477087.1:n.155-876A>G
NM_004064.4:c.110A>G	NP_004055.1:p.Asp37Gly
NM_004064.5:c.110A>G MANE Select	NP_004055.1:p.Asp37Gly