Canonical Allele Identifier: CA383969538

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1000692
• ClinVar RCV Id: RCV001296851
• dbSNP Id: rs770564585
• gnomAD v4: 12-12718051-A-G
• MyVariant Identifiers: chr12:g.12870985A>G (hg19) ; chr12:g.12718051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718051A>G , CM000674.2:g.12718051A>G	GRCh38
NC_000012.11:g.12870985A>G , CM000674.1:g.12870985A>G	GRCh37
NC_000012.10:g.12762252A>G	NCBI36
NG_016341.1:g.5684A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.212A>G	ENSP00000507272.1:p.Glu71Gly
ENST00000682620.1:n.1631-774A>G
ENST00000684771.1:n.585-774A>G
ENST00000228872.9:c.212A>G MANE Select	ENSP00000228872.4:p.Glu71Gly
ENST00000228872.8:c.212A>G	ENSP00000228872.4:p.Glu71Gly
ENST00000396340.1:c.212A>G	ENSP00000379629.1:p.Glu71Gly
ENST00000442489.1:c.191A>G	ENSP00000407597.1:p.Glu64Gly
ENST00000477087.1:n.155-774A>G
NM_004064.4:c.212A>G	NP_004055.1:p.Glu71Gly
NM_004064.5:c.212A>G MANE Select	NP_004055.1:p.Glu71Gly