Canonical Allele Identifier: CA385542367
Gene: CDK4 HGNC NCBI
TSPAN31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57748565T>G , CM000674.2:g.57748565T>G GRCh38
NC_000012.11:g.58142348T>G , CM000674.1:g.58142348T>G GRCh37
NC_000012.10:g.56428615T>G NCBI36
NG_007484.2:g.8817A>C , LRG_490:g.8817A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000075.4:c.872A>C (CDK4) MANE Select NP_000066.1:p.Gln291Pro
NM_005981.5:c.*1275T>G (TSPAN31) MANE Select NP_005972.1:n.*1275T>G
ENST00000257904.11:c.872A>C (CDK4) MANE Select ENSP00000257904.5:p.Gln291Pro
ENST00000257910.8:c.*1275T>G (TSPAN31) MANE Select ENSP00000257910.3:n.*1275T>G
NM_000075.3:c.872A>C (CDK4) NP_000066.1:p.Gln291Pro
NM_001330168.2:c.*1275T>G (TSPAN31) NP_001317097.1:n.*1275T>G
NM_001330169.2:c.*1275T>G (TSPAN31) NP_001317098.1:n.*1275T>G
ENST00000257904.10:c.872A>C (CDK4) ENSP00000257904.5:p.Gln291Pro
ENST00000312990.10:c.*184A>C (CDK4) ENSP00000316889.6:n.*184A>C
ENST00000547992.5:c.*1275T>G (TSPAN31) ENSP00000448209.1:n.*1275T>G
ENST00000549606.5:c.83A>C (CDK4) ENSP00000447005.1:p.Gln28Pro
ENST00000552713.5:n.531A>C (CDK4)
ENST00000553237.5:c.*511A>C (CDK4) ENSP00000448885.1:n.*511A>C