Canonical Allele Identifier: CA467070882
Gene: CDK5RAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123201804G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439526G>A , CM000671.2:g.120439526G>A GRCh38
NC_000009.11:g.123201804G>A , CM000671.1:g.123201804G>A GRCh37
NC_000009.10:g.122241625G>A NCBI36
NG_008999.1:g.145634C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2905C>T ENSP00000354065.4:p.Leu969=
ENST00000416449.6:c.3499C>T ENSP00000400395.2:p.Leu1167=
ENST00000479584.2:n.1842C>T
ENST00000684780.1:n.3885C>T
ENST00000685866.1:c.*1422C>T ENSP00000509484.1:n.*1422C>T
ENST00000686376.1:c.3675C>T ENSP00000510021.1:n.3675C>T
ENST00000686842.1:n.7149C>T
ENST00000687279.1:c.3592C>T ENSP00000508692.1:p.Leu1198=
ENST00000687311.1:n.3558C>T
ENST00000687633.1:c.3496C>T ENSP00000510289.1:p.Leu1166=
ENST00000688923.1:n.2967C>T
ENST00000689688.1:c.3595C>T ENSP00000510155.1:p.Leu1199=
ENST00000690646.1:c.3499C>T ENSP00000510383.1:p.Leu1167=
ENST00000690814.1:c.*771C>T ENSP00000508792.1:n.*771C>T
ENST00000691504.1:n.3489C>T
ENST00000692155.1:c.3675C>T ENSP00000510290.1:n.3675C>T
ENST00000692746.1:n.3502C>T
ENST00000693386.1:c.3499C>T ENSP00000510003.1:p.Leu1167=
ENST00000693433.1:n.3489C>T
ENST00000693714.1:n.3542C>T
ENST00000693728.1:c.3499C>T ENSP00000510580.1:p.Leu1167=
ENST00000349780.9:c.3595C>T MANE Select ENSP00000343818.4:p.Leu1199=
ENST00000349780.8:c.3595C>T ENSP00000343818.4:p.Leu1199=
ENST00000360190.8:c.3595C>T ENSP00000353317.4:p.Leu1199=
ENST00000360822.7:c.2905C>T ENSP00000354065.4:p.Leu969=
ENST00000416449.5:c.1777C>T ENSP00000400395.1:p.Leu593=
ENST00000425647.1:c.625C>T ENSP00000409941.1:p.Leu209=
ENST00000468989.1:n.569C>T
ENST00000473282.6:c.*2419C>T ENSP00000419265.1:n.*2419C>T
ENST00000480112.5:c.*1422C>T ENSP00000418418.1:n.*1422C>T
ENST00000483412.5:n.2903C>T
NM_001011649.2:c.3595C>T NP_001011649.1:p.Leu1199=
NM_001272039.1:c.2905C>T NP_001258968.1:p.Leu969=
NM_018249.5:c.3595C>T NP_060719.4:p.Leu1199=
NR_073554.1:n.3864C>T
NR_073555.1:n.3787C>T
NR_073556.1:n.3994C>T
NR_073557.1:n.3867C>T
NR_073558.1:n.3864C>T
XM_006717182.1:c.3499C>T XP_006717245.1:p.Leu1167=
XM_006717185.1:c.2908C>T XP_006717248.1:p.Leu970=
XM_011518860.1:c.3592C>T XP_011517162.1:p.Leu1198=
XM_011518861.1:c.3592C>T XP_011517163.1:p.Leu1198=
XM_017014921.1:c.3496C>T XP_016870410.1:p.Leu1166=
XM_017014922.1:c.2761C>T XP_016870411.1:p.Leu921=
XM_017014923.1:c.2908C>T XP_016870412.1:p.Leu970=
XM_017014924.1:c.1390C>T XP_016870413.1:p.Leu464=
NM_018249.6:c.3595C>T MANE Select NP_060719.4:p.Leu1199=
NM_001011649.3:c.3595C>T NP_001011649.1:p.Leu1199=
NR_073554.2:n.3861C>T
NR_073555.2:n.3784C>T
NR_073556.2:n.3991C>T
NR_073557.2:n.3864C>T
NR_073558.2:n.3861C>T
NM_001272039.2:c.2905C>T NP_001258968.1:p.Leu969=