Canonical Allele Identifier: CA383968323

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2149967
• ClinVar RCV Id: RCV003065751
• gnomAD v4: 12-12717910-C-G
• MyVariant Identifiers: chr12:g.12870844C>G (hg19) ; chr12:g.12717910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717910C>G , CM000674.2:g.12717910C>G	GRCh38
NC_000012.11:g.12870844C>G , CM000674.1:g.12870844C>G	GRCh37
NC_000012.10:g.12762111C>G	NCBI36
NG_016341.1:g.5543C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.71C>G	ENSP00000507272.1:p.Pro24Arg
ENST00000682620.1:n.1631-915C>G
ENST00000684771.1:n.585-915C>G
ENST00000228872.9:c.71C>G MANE Select	ENSP00000228872.4:p.Pro24Arg
ENST00000228872.8:c.71C>G	ENSP00000228872.4:p.Pro24Arg
ENST00000396340.1:c.71C>G	ENSP00000379629.1:p.Pro24Arg
ENST00000442489.1:c.50C>G	ENSP00000407597.1:p.Pro17Arg
ENST00000477087.1:n.155-915C>G
NM_004064.4:c.71C>G	NP_004055.1:p.Pro24Arg
NM_004064.5:c.71C>G MANE Select	NP_004055.1:p.Pro24Arg