Canonical Allele Identifier: CA383970771

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1517494
• ClinVar RCV Id: RCV002027396
• dbSNP Id: rs2136356536
• gnomAD v4: 12-12718275-G-A
• MyVariant Identifiers: chr12:g.12871209G>A (hg19) ; chr12:g.12718275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718275G>A , CM000674.2:g.12718275G>A	GRCh38
NC_000012.11:g.12871209G>A , CM000674.1:g.12871209G>A	GRCh37
NC_000012.10:g.12762476G>A	NCBI36
NG_016341.1:g.5908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.436G>A	ENSP00000507272.1:p.Glu146Lys
ENST00000682620.1:n.1631-550G>A
ENST00000684771.1:n.585-550G>A
ENST00000228872.9:c.436G>A MANE Select	ENSP00000228872.4:p.Glu146Lys
ENST00000228872.8:c.436G>A	ENSP00000228872.4:p.Glu146Lys
ENST00000396340.1:c.436G>A	ENSP00000379629.1:p.Glu146Lys
ENST00000442489.1:c.193+222G>A	ENSP00000407597.1:n.193+222G>A
ENST00000477087.1:n.155-550G>A
NM_004064.4:c.436G>A	NP_004055.1:p.Glu146Lys
NM_004064.5:c.436G>A MANE Select	NP_004055.1:p.Glu146Lys