Canonical Allele Identifier: CA127261
Gene: CDKN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 17565
ClinVar RCV Id: RCV000019125
dbSNP Id: rs1801270
gnomAD v2: 6-36651971-C-A
gnomAD v3: 6-36684194-C-A
gnomAD v4: 6-36684194-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36684194C>A , CM000668.2:g.36684194C>A GRCh38
NC_000006.11:g.36651971C>A , CM000668.1:g.36651971C>A GRCh37
NC_000006.10:g.36759949C>A NCBI36
NG_009364.1:g.10513C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000244741.10:c.93C>A MANE Select ENSP00000244741.6:p.Ser31Arg
ENST00000244741.9:c.93C>A ENSP00000244741.5:p.Ser31Arg
ENST00000373711.3:c.93C>A ENSP00000362815.1:p.Ser31Arg
ENST00000405375.5:c.93C>A ENSP00000384849.1:p.Ser31Arg
ENST00000448526.6:c.93C>A ENSP00000409259.3:p.Ser31Arg
ENST00000459970.1:n.287C>A
ENST00000478800.1:n.312C>A
ENST00000615513.4:c.93C>A ENSP00000482768.1:p.Ser31Arg
NM_000389.4:c.93C>A NP_000380.1:p.Ser31Arg
NM_001220777.1:c.93C>A NP_001207706.1:p.Ser31Arg
NM_001220778.1:c.93C>A NP_001207707.1:p.Ser31Arg
NM_001291549.1:c.195C>A NP_001278478.1:p.Ser65Arg
NM_078467.2:c.93C>A NP_510867.1:p.Ser31Arg
NM_000389.5:c.93C>A MANE Select NP_000380.1:p.Ser31Arg
NM_001220777.2:c.93C>A NP_001207706.1:p.Ser31Arg
NM_001220778.2:c.93C>A NP_001207707.1:p.Ser31Arg
NM_001291549.3:c.195C>A NP_001278478.1:p.Ser65Arg
NM_001374509.1:c.195C>A NP_001361438.1:p.Ser65Arg
NM_001374510.1:c.132C>A NP_001361439.1:p.Ser44Arg
NM_001374511.1:c.93C>A NP_001361440.1:p.Ser31Arg
NM_001374512.1:c.93C>A NP_001361441.1:p.Ser31Arg
NM_001374513.1:c.93C>A NP_001361442.1:p.Ser31Arg
NM_078467.3:c.93C>A NP_510867.1:p.Ser31Arg