Canonical Allele Identifier: CA480299570
Gene: CDK4 HGNC NCBI
TSPAN31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57748567C>G , CM000674.2:g.57748567C>G GRCh38
NC_000012.11:g.58142350C>G , CM000674.1:g.58142350C>G GRCh37
NC_000012.10:g.56428617C>G NCBI36
NG_007484.2:g.8815G>C , LRG_490:g.8815G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257904.11:c.870G>C (CDK4) MANE Select ENSP00000257904.5:p.Leu290=
ENST00000257910.8:c.*1277C>G (TSPAN31) MANE Select ENSP00000257910.3:n.*1277C>G
ENST00000257904.10:c.870G>C (CDK4) ENSP00000257904.5:p.Leu290=
ENST00000312990.10:c.*182G>C (CDK4) ENSP00000316889.6:n.*182G>C
ENST00000547992.5:c.*1277C>G (TSPAN31) ENSP00000448209.1:n.*1277C>G
ENST00000549606.5:c.81G>C (CDK4) ENSP00000447005.1:p.Leu27=
ENST00000552713.5:n.529G>C (CDK4)
ENST00000553237.5:c.*509G>C (CDK4) ENSP00000448885.1:n.*509G>C
NM_000075.3:c.870G>C (CDK4) NP_000066.1:p.Leu290=
NM_000075.4:c.870G>C (CDK4) MANE Select NP_000066.1:p.Leu290=
NM_005981.5:c.*1277C>G (TSPAN31) MANE Select NP_005972.1:n.*1277C>G
NM_001330168.2:c.*1277C>G (TSPAN31) NP_001317097.1:n.*1277C>G
NM_001330169.2:c.*1277C>G (TSPAN31) NP_001317098.1:n.*1277C>G