Canonical Allele Identifier: CA165911
Gene: CDK4 HGNC NCBI
TSPAN31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57749265G>A , CM000674.2:g.57749265G>A GRCh38
NC_000012.11:g.58143048G>A , CM000674.1:g.58143048G>A GRCh37
NC_000012.10:g.56429315G>A NCBI36
NG_007484.2:g.8117C>T , LRG_490:g.8117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257904.11:c.736C>T (CDK4) MANE Select ENSP00000257904.5:p.Arg246Cys
ENST00000257910.8:c.*1975G>A (TSPAN31) MANE Select ENSP00000257910.3:n.*1975G>A
ENST00000257904.10:c.736C>T (CDK4) ENSP00000257904.5:p.Arg246Cys
ENST00000312990.10:c.*48C>T (CDK4) ENSP00000316889.6:n.*48C>T
ENST00000546489.5:c.514C>T (CDK4) ENSP00000447779.1:p.Arg172Cys
ENST00000547281.5:c.514C>T (CDK4) ENSP00000447274.1:p.Arg172Cys
ENST00000547992.5:c.*1975G>A (TSPAN31) ENSP00000448209.1:n.*1975G>A
ENST00000549606.5:c.-54C>T (CDK4) ENSP00000447005.1:n.-54C>T
ENST00000550419.5:c.*142C>T (CDK4) ENSP00000448098.1:n.*142C>T
ENST00000551888.5:n.562C>T (CDK4)
ENST00000552713.5:n.395C>T (CDK4)
ENST00000553237.5:c.*375C>T (CDK4) ENSP00000448885.1:n.*375C>T
NM_000075.3:c.736C>T (CDK4) NP_000066.1:p.Arg246Cys
NM_000075.4:c.736C>T (CDK4) MANE Select NP_000066.1:p.Arg246Cys
NM_005981.5:c.*1975G>A (TSPAN31) MANE Select NP_005972.1:n.*1975G>A
NM_001330168.2:c.*1975G>A (TSPAN31) NP_001317097.1:n.*1975G>A
NM_001330169.2:c.*1975G>A (TSPAN31) NP_001317098.1:n.*1975G>A