Canonical Allele Identifier: CA467070881

Gene: CDK5RAP2

Linked Data

• gnomAD v4: 9-120439524-C-T
• MyVariant Identifiers: chr9:g.123201802C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439524C>T , CM000671.2:g.120439524C>T	GRCh38
NC_000009.11:g.123201802C>T , CM000671.1:g.123201802C>T	GRCh37
NC_000009.10:g.122241623C>T	NCBI36
NG_008999.1:g.145636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2907G>A	ENSP00000354065.4:p.Leu969=
ENST00000416449.6:c.3501G>A	ENSP00000400395.2:p.Leu1167=
ENST00000479584.2:n.1844G>A
ENST00000684780.1:n.3887G>A
ENST00000685866.1:c.*1424G>A	ENSP00000509484.1:n.*1424G>A
ENST00000686376.1:c.3677G>A	ENSP00000510021.1:n.3677G>A
ENST00000686842.1:n.7151G>A
ENST00000687279.1:c.3594G>A	ENSP00000508692.1:p.Leu1198=
ENST00000687311.1:n.3560G>A
ENST00000687633.1:c.3498G>A	ENSP00000510289.1:p.Leu1166=
ENST00000688923.1:n.2969G>A
ENST00000689688.1:c.3597G>A	ENSP00000510155.1:p.Leu1199=
ENST00000690646.1:c.3501G>A	ENSP00000510383.1:p.Leu1167=
ENST00000690814.1:c.*773G>A	ENSP00000508792.1:n.*773G>A
ENST00000691504.1:n.3491G>A
ENST00000692155.1:c.3677G>A	ENSP00000510290.1:n.3677G>A
ENST00000692746.1:n.3504G>A
ENST00000693386.1:c.3501G>A	ENSP00000510003.1:p.Leu1167=
ENST00000693433.1:n.3491G>A
ENST00000693714.1:n.3544G>A
ENST00000693728.1:c.3501G>A	ENSP00000510580.1:p.Leu1167=
ENST00000349780.9:c.3597G>A MANE Select	ENSP00000343818.4:p.Leu1199=
ENST00000349780.8:c.3597G>A	ENSP00000343818.4:p.Leu1199=
ENST00000360190.8:c.3597G>A	ENSP00000353317.4:p.Leu1199=
ENST00000360822.7:c.2907G>A	ENSP00000354065.4:p.Leu969=
ENST00000416449.5:c.1779G>A	ENSP00000400395.1:p.Leu593=
ENST00000425647.1:c.627G>A	ENSP00000409941.1:p.Leu209=
ENST00000468989.1:n.571G>A
ENST00000473282.6:c.*2421G>A	ENSP00000419265.1:n.*2421G>A
ENST00000480112.5:c.*1424G>A	ENSP00000418418.1:n.*1424G>A
ENST00000483412.5:n.2905G>A
NM_001011649.2:c.3597G>A	NP_001011649.1:p.Leu1199=
NM_001272039.1:c.2907G>A	NP_001258968.1:p.Leu969=
NM_018249.5:c.3597G>A	NP_060719.4:p.Leu1199=
NR_073554.1:n.3866G>A
NR_073555.1:n.3789G>A
NR_073556.1:n.3996G>A
NR_073557.1:n.3869G>A
NR_073558.1:n.3866G>A
XM_006717182.1:c.3501G>A	XP_006717245.1:p.Leu1167=
XM_006717185.1:c.2910G>A	XP_006717248.1:p.Leu970=
XM_011518860.1:c.3594G>A	XP_011517162.1:p.Leu1198=
XM_011518861.1:c.3594G>A	XP_011517163.1:p.Leu1198=
XM_017014921.1:c.3498G>A	XP_016870410.1:p.Leu1166=
XM_017014922.1:c.2763G>A	XP_016870411.1:p.Leu921=
XM_017014923.1:c.2910G>A	XP_016870412.1:p.Leu970=
XM_017014924.1:c.1392G>A	XP_016870413.1:p.Leu464=
NM_018249.6:c.3597G>A MANE Select	NP_060719.4:p.Leu1199=
NM_001011649.3:c.3597G>A	NP_001011649.1:p.Leu1199=
NR_073554.2:n.3863G>A
NR_073555.2:n.3786G>A
NR_073556.2:n.3993G>A
NR_073557.2:n.3866G>A
NR_073558.2:n.3863G>A
NM_001272039.2:c.2907G>A	NP_001258968.1:p.Leu969=