Canonical Allele Identifier: CA363834554

Gene: CDKN1A

Linked Data

• dbSNP Id: rs373136985
• gnomAD v2: 6-36652245-T-G
• gnomAD v3: 6-36684468-T-G
• gnomAD v4: 6-36684468-T-G
• MyVariant Identifiers: chr6:g.36652245T>G (hg19) ; chr6:g.36684468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36684468T>G , CM000668.2:g.36684468T>G	GRCh38
NC_000006.11:g.36652245T>G , CM000668.1:g.36652245T>G	GRCh37
NC_000006.10:g.36760223T>G	NCBI36
NG_009364.1:g.10787T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000244741.10:c.367T>G MANE Select	ENSP00000244741.6:p.Ser123Ala
ENST00000244741.9:c.367T>G	ENSP00000244741.5:p.Ser123Ala
ENST00000373711.3:c.367T>G	ENSP00000362815.1:p.Ser123Ala
ENST00000405375.5:c.367T>G	ENSP00000384849.1:p.Ser123Ala
ENST00000448526.6:c.367T>G	ENSP00000409259.3:p.Ser123Ala
ENST00000459970.1:n.561T>G
ENST00000478800.1:n.586T>G
ENST00000615513.4:c.367T>G	ENSP00000482768.1:p.Ser123Ala
NM_000389.4:c.367T>G	NP_000380.1:p.Ser123Ala
NM_001220777.1:c.367T>G	NP_001207706.1:p.Ser123Ala
NM_001220778.1:c.367T>G	NP_001207707.1:p.Ser123Ala
NM_001291549.1:c.469T>G	NP_001278478.1:p.Ser157Ala
NM_078467.2:c.367T>G	NP_510867.1:p.Ser123Ala
NM_000389.5:c.367T>G MANE Select	NP_000380.1:p.Ser123Ala
NM_001220777.2:c.367T>G	NP_001207706.1:p.Ser123Ala
NM_001220778.2:c.367T>G	NP_001207707.1:p.Ser123Ala
NM_001291549.3:c.469T>G	NP_001278478.1:p.Ser157Ala
NM_001374509.1:c.469T>G	NP_001361438.1:p.Ser157Ala
NM_001374510.1:c.406T>G	NP_001361439.1:p.Ser136Ala
NM_001374511.1:c.367T>G	NP_001361440.1:p.Ser123Ala
NM_001374512.1:c.367T>G	NP_001361441.1:p.Ser123Ala
NM_001374513.1:c.367T>G	NP_001361442.1:p.Ser123Ala
NM_078467.3:c.367T>G	NP_510867.1:p.Ser123Ala