Canonical Allele Identifier: CA383970221

Gene: CDKN1B

Linked Data

• dbSNP Id: rs2136356136
• gnomAD v4: 12-12718162-A-G
• MyVariant Identifiers: chr12:g.12871096A>G (hg19) ; chr12:g.12718162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718162A>G , CM000674.2:g.12718162A>G	GRCh38
NC_000012.11:g.12871096A>G , CM000674.1:g.12871096A>G	GRCh37
NC_000012.10:g.12762363A>G	NCBI36
NG_016341.1:g.5795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.323A>G	ENSP00000507272.1:p.Asp108Gly
ENST00000682620.1:n.1631-663A>G
ENST00000684771.1:n.585-663A>G
ENST00000228872.9:c.323A>G MANE Select	ENSP00000228872.4:p.Asp108Gly
ENST00000228872.8:c.323A>G	ENSP00000228872.4:p.Asp108Gly
ENST00000396340.1:c.323A>G	ENSP00000379629.1:p.Asp108Gly
ENST00000442489.1:c.193+109A>G	ENSP00000407597.1:n.193+109A>G
ENST00000477087.1:n.155-663A>G
NM_004064.4:c.323A>G	NP_004055.1:p.Asp108Gly
NM_004064.5:c.323A>G MANE Select	NP_004055.1:p.Asp108Gly