Canonical Allele Identifier: CA374721134
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439501T>A , CM000671.2:g.120439501T>A GRCh38
NC_000009.11:g.123201779T>A , CM000671.1:g.123201779T>A GRCh37
NC_000009.10:g.122241600T>A NCBI36
NG_008999.1:g.145659A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2930A>T ENSP00000354065.4:p.Glu977Val
ENST00000416449.6:c.3524A>T ENSP00000400395.2:p.Glu1175Val
ENST00000479584.2:n.1867A>T
ENST00000684780.1:n.3910A>T
ENST00000685866.1:c.*1447A>T ENSP00000509484.1:n.*1447A>T
ENST00000686376.1:c.3700A>T ENSP00000510021.1:n.3700A>T
ENST00000686842.1:n.7174A>T
ENST00000687279.1:c.3617A>T ENSP00000508692.1:p.Glu1206Val
ENST00000687311.1:n.3583A>T
ENST00000687633.1:c.3521A>T ENSP00000510289.1:p.Glu1174Val
ENST00000688923.1:n.2992A>T
ENST00000689688.1:c.3620A>T ENSP00000510155.1:p.Glu1207Val
ENST00000690646.1:c.3524A>T ENSP00000510383.1:p.Glu1175Val
ENST00000690814.1:c.*796A>T ENSP00000508792.1:n.*796A>T
ENST00000691504.1:n.3514A>T
ENST00000692155.1:c.3700A>T ENSP00000510290.1:n.3700A>T
ENST00000692746.1:n.3527A>T
ENST00000693386.1:c.3524A>T ENSP00000510003.1:p.Glu1175Val
ENST00000693433.1:n.3514A>T
ENST00000693714.1:n.3567A>T
ENST00000693728.1:c.3524A>T ENSP00000510580.1:p.Glu1175Val
ENST00000349780.9:c.3620A>T MANE Select ENSP00000343818.4:p.Glu1207Val
ENST00000349780.8:c.3620A>T ENSP00000343818.4:p.Glu1207Val
ENST00000360190.8:c.3620A>T ENSP00000353317.4:p.Glu1207Val
ENST00000360822.7:c.2930A>T ENSP00000354065.4:p.Glu977Val
ENST00000416449.5:c.1802A>T ENSP00000400395.1:p.Glu601Val
ENST00000425647.1:c.650A>T ENSP00000409941.1:p.Glu217Val
ENST00000473282.6:c.*2444A>T ENSP00000419265.1:n.*2444A>T
ENST00000480112.5:c.*1447A>T ENSP00000418418.1:n.*1447A>T
ENST00000483412.5:n.2928A>T
NM_001011649.2:c.3620A>T NP_001011649.1:p.Glu1207Val
NM_001272039.1:c.2930A>T NP_001258968.1:p.Glu977Val
NM_018249.5:c.3620A>T NP_060719.4:p.Glu1207Val
NR_073554.1:n.3889A>T
NR_073555.1:n.3812A>T
NR_073556.1:n.4019A>T
NR_073557.1:n.3892A>T
NR_073558.1:n.3889A>T
XM_006717182.1:c.3524A>T XP_006717245.1:p.Glu1175Val
XM_006717185.1:c.2933A>T XP_006717248.1:p.Glu978Val
XM_011518860.1:c.3617A>T XP_011517162.1:p.Glu1206Val
XM_011518861.1:c.3617A>T XP_011517163.1:p.Glu1206Val
XM_017014921.1:c.3521A>T XP_016870410.1:p.Glu1174Val
XM_017014922.1:c.2786A>T XP_016870411.1:p.Glu929Val
XM_017014923.1:c.2933A>T XP_016870412.1:p.Glu978Val
XM_017014924.1:c.1415A>T XP_016870413.1:p.Glu472Val
NM_018249.6:c.3620A>T MANE Select NP_060719.4:p.Glu1207Val
NM_001011649.3:c.3620A>T NP_001011649.1:p.Glu1207Val
NR_073554.2:n.3886A>T
NR_073555.2:n.3809A>T
NR_073556.2:n.4016A>T
NR_073557.2:n.3889A>T
NR_073558.2:n.3886A>T
NM_001272039.2:c.2930A>T NP_001258968.1:p.Glu977Val