Canonical Allele Identifier: CA480300243
Gene: CDK4 HGNC NCBI
TSPAN31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57749281T>G , CM000674.2:g.57749281T>G GRCh38
NC_000012.11:g.58143064T>G , CM000674.1:g.58143064T>G GRCh37
NC_000012.10:g.56429331T>G NCBI36
NG_007484.2:g.8101A>C , LRG_490:g.8101A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000075.4:c.720A>C (CDK4) MANE Select NP_000066.1:p.Arg240=
NM_005981.5:c.*1991T>G (TSPAN31) MANE Select NP_005972.1:n.*1991T>G
ENST00000257904.11:c.720A>C (CDK4) MANE Select ENSP00000257904.5:p.Arg240=
ENST00000257910.8:c.*1991T>G (TSPAN31) MANE Select ENSP00000257910.3:n.*1991T>G
NM_000075.3:c.720A>C (CDK4) NP_000066.1:p.Arg240=
NM_001330168.2:c.*1991T>G (TSPAN31) NP_001317097.1:n.*1991T>G
NM_001330169.2:c.*1991T>G (TSPAN31) NP_001317098.1:n.*1991T>G
ENST00000257904.10:c.720A>C (CDK4) ENSP00000257904.5:p.Arg240=
ENST00000312990.10:c.*32A>C (CDK4) ENSP00000316889.6:n.*32A>C
ENST00000546489.5:c.498A>C (CDK4) ENSP00000447779.1:p.Arg166=
ENST00000547281.5:c.498A>C (CDK4) ENSP00000447274.1:p.Arg166=
ENST00000547992.5:c.*1991T>G (TSPAN31) ENSP00000448209.1:n.*1991T>G
ENST00000549606.5:c.-70A>C (CDK4) ENSP00000447005.1:n.-70A>C
ENST00000550419.5:c.*126A>C (CDK4) ENSP00000448098.1:n.*126A>C
ENST00000551888.5:n.546A>C (CDK4)
ENST00000552713.5:n.379A>C (CDK4)
ENST00000553237.5:c.*359A>C (CDK4) ENSP00000448885.1:n.*359A>C