Canonical Allele Identifier: CA467070870
Gene: CDK5RAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123201783G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439505G>A , CM000671.2:g.120439505G>A GRCh38
NC_000009.11:g.123201783G>A , CM000671.1:g.123201783G>A GRCh37
NC_000009.10:g.122241604G>A NCBI36
NG_008999.1:g.145655C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2926C>T ENSP00000354065.4:p.Leu976=
ENST00000416449.6:c.3520C>T ENSP00000400395.2:p.Leu1174=
ENST00000479584.2:n.1863C>T
ENST00000684780.1:n.3906C>T
ENST00000685866.1:c.*1443C>T ENSP00000509484.1:n.*1443C>T
ENST00000686376.1:c.3696C>T ENSP00000510021.1:n.3696C>T
ENST00000686842.1:n.7170C>T
ENST00000687279.1:c.3613C>T ENSP00000508692.1:p.Leu1205=
ENST00000687311.1:n.3579C>T
ENST00000687633.1:c.3517C>T ENSP00000510289.1:p.Leu1173=
ENST00000688923.1:n.2988C>T
ENST00000689688.1:c.3616C>T ENSP00000510155.1:p.Leu1206=
ENST00000690646.1:c.3520C>T ENSP00000510383.1:p.Leu1174=
ENST00000690814.1:c.*792C>T ENSP00000508792.1:n.*792C>T
ENST00000691504.1:n.3510C>T
ENST00000692155.1:c.3696C>T ENSP00000510290.1:n.3696C>T
ENST00000692746.1:n.3523C>T
ENST00000693386.1:c.3520C>T ENSP00000510003.1:p.Leu1174=
ENST00000693433.1:n.3510C>T
ENST00000693714.1:n.3563C>T
ENST00000693728.1:c.3520C>T ENSP00000510580.1:p.Leu1174=
ENST00000349780.9:c.3616C>T MANE Select ENSP00000343818.4:p.Leu1206=
ENST00000349780.8:c.3616C>T ENSP00000343818.4:p.Leu1206=
ENST00000360190.8:c.3616C>T ENSP00000353317.4:p.Leu1206=
ENST00000360822.7:c.2926C>T ENSP00000354065.4:p.Leu976=
ENST00000416449.5:c.1798C>T ENSP00000400395.1:p.Leu600=
ENST00000425647.1:c.646C>T ENSP00000409941.1:p.Leu216=
ENST00000473282.6:c.*2440C>T ENSP00000419265.1:n.*2440C>T
ENST00000480112.5:c.*1443C>T ENSP00000418418.1:n.*1443C>T
ENST00000483412.5:n.2924C>T
NM_001011649.2:c.3616C>T NP_001011649.1:p.Leu1206=
NM_001272039.1:c.2926C>T NP_001258968.1:p.Leu976=
NM_018249.5:c.3616C>T NP_060719.4:p.Leu1206=
NR_073554.1:n.3885C>T
NR_073555.1:n.3808C>T
NR_073556.1:n.4015C>T
NR_073557.1:n.3888C>T
NR_073558.1:n.3885C>T
XM_006717182.1:c.3520C>T XP_006717245.1:p.Leu1174=
XM_006717185.1:c.2929C>T XP_006717248.1:p.Leu977=
XM_011518860.1:c.3613C>T XP_011517162.1:p.Leu1205=
XM_011518861.1:c.3613C>T XP_011517163.1:p.Leu1205=
XM_017014921.1:c.3517C>T XP_016870410.1:p.Leu1173=
XM_017014922.1:c.2782C>T XP_016870411.1:p.Leu928=
XM_017014923.1:c.2929C>T XP_016870412.1:p.Leu977=
XM_017014924.1:c.1411C>T XP_016870413.1:p.Leu471=
NM_018249.6:c.3616C>T MANE Select NP_060719.4:p.Leu1206=
NM_001011649.3:c.3616C>T NP_001011649.1:p.Leu1206=
NR_073554.2:n.3882C>T
NR_073555.2:n.3805C>T
NR_073556.2:n.4012C>T
NR_073557.2:n.3885C>T
NR_073558.2:n.3882C>T
NM_001272039.2:c.2926C>T NP_001258968.1:p.Leu976=