Canonical Allele Identifier: CA467070876
Gene: CDK5RAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123201793G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439515G>T , CM000671.2:g.120439515G>T GRCh38
NC_000009.11:g.123201793G>T , CM000671.1:g.123201793G>T GRCh37
NC_000009.10:g.122241614G>T NCBI36
NG_008999.1:g.145645C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2916C>A ENSP00000354065.4:p.Leu972=
ENST00000416449.6:c.3510C>A ENSP00000400395.2:p.Leu1170=
ENST00000479584.2:n.1853C>A
ENST00000684780.1:n.3896C>A
ENST00000685866.1:c.*1433C>A ENSP00000509484.1:n.*1433C>A
ENST00000686376.1:c.3686C>A ENSP00000510021.1:n.3686C>A
ENST00000686842.1:n.7160C>A
ENST00000687279.1:c.3603C>A ENSP00000508692.1:p.Leu1201=
ENST00000687311.1:n.3569C>A
ENST00000687633.1:c.3507C>A ENSP00000510289.1:p.Leu1169=
ENST00000688923.1:n.2978C>A
ENST00000689688.1:c.3606C>A ENSP00000510155.1:p.Leu1202=
ENST00000690646.1:c.3510C>A ENSP00000510383.1:p.Leu1170=
ENST00000690814.1:c.*782C>A ENSP00000508792.1:n.*782C>A
ENST00000691504.1:n.3500C>A
ENST00000692155.1:c.3686C>A ENSP00000510290.1:n.3686C>A
ENST00000692746.1:n.3513C>A
ENST00000693386.1:c.3510C>A ENSP00000510003.1:p.Leu1170=
ENST00000693433.1:n.3500C>A
ENST00000693714.1:n.3553C>A
ENST00000693728.1:c.3510C>A ENSP00000510580.1:p.Leu1170=
ENST00000349780.9:c.3606C>A MANE Select ENSP00000343818.4:p.Leu1202=
ENST00000349780.8:c.3606C>A ENSP00000343818.4:p.Leu1202=
ENST00000360190.8:c.3606C>A ENSP00000353317.4:p.Leu1202=
ENST00000360822.7:c.2916C>A ENSP00000354065.4:p.Leu972=
ENST00000416449.5:c.1788C>A ENSP00000400395.1:p.Leu596=
ENST00000425647.1:c.636C>A ENSP00000409941.1:p.Leu212=
ENST00000473282.6:c.*2430C>A ENSP00000419265.1:n.*2430C>A
ENST00000480112.5:c.*1433C>A ENSP00000418418.1:n.*1433C>A
ENST00000483412.5:n.2914C>A
NM_001011649.2:c.3606C>A NP_001011649.1:p.Leu1202=
NM_001272039.1:c.2916C>A NP_001258968.1:p.Leu972=
NM_018249.5:c.3606C>A NP_060719.4:p.Leu1202=
NR_073554.1:n.3875C>A
NR_073555.1:n.3798C>A
NR_073556.1:n.4005C>A
NR_073557.1:n.3878C>A
NR_073558.1:n.3875C>A
XM_006717182.1:c.3510C>A XP_006717245.1:p.Leu1170=
XM_006717185.1:c.2919C>A XP_006717248.1:p.Leu973=
XM_011518860.1:c.3603C>A XP_011517162.1:p.Leu1201=
XM_011518861.1:c.3603C>A XP_011517163.1:p.Leu1201=
XM_017014921.1:c.3507C>A XP_016870410.1:p.Leu1169=
XM_017014922.1:c.2772C>A XP_016870411.1:p.Leu924=
XM_017014923.1:c.2919C>A XP_016870412.1:p.Leu973=
XM_017014924.1:c.1401C>A XP_016870413.1:p.Leu467=
NM_018249.6:c.3606C>A MANE Select NP_060719.4:p.Leu1202=
NM_001011649.3:c.3606C>A NP_001011649.1:p.Leu1202=
NR_073554.2:n.3872C>A
NR_073555.2:n.3795C>A
NR_073556.2:n.4002C>A
NR_073557.2:n.3875C>A
NR_073558.2:n.3872C>A
NM_001272039.2:c.2916C>A NP_001258968.1:p.Leu972=