Canonical Allele Identifier: CA374721182

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs1588337560
• MyVariant Identifiers: chr9:g.123201800T>G (hg19) ; chr9:g.120439522T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439522T>G , CM000671.2:g.120439522T>G	GRCh38
NC_000009.11:g.123201800T>G , CM000671.1:g.123201800T>G	GRCh37
NC_000009.10:g.122241621T>G	NCBI36
NG_008999.1:g.145638A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2909A>C	ENSP00000354065.4:p.Glu970Ala
ENST00000416449.6:c.3503A>C	ENSP00000400395.2:p.Glu1168Ala
ENST00000479584.2:n.1846A>C
ENST00000684780.1:n.3889A>C
ENST00000685866.1:c.*1426A>C	ENSP00000509484.1:n.*1426A>C
ENST00000686376.1:c.3679A>C	ENSP00000510021.1:n.3679A>C
ENST00000686842.1:n.7153A>C
ENST00000687279.1:c.3596A>C	ENSP00000508692.1:p.Glu1199Ala
ENST00000687311.1:n.3562A>C
ENST00000687633.1:c.3500A>C	ENSP00000510289.1:p.Glu1167Ala
ENST00000688923.1:n.2971A>C
ENST00000689688.1:c.3599A>C	ENSP00000510155.1:p.Glu1200Ala
ENST00000690646.1:c.3503A>C	ENSP00000510383.1:p.Glu1168Ala
ENST00000690814.1:c.*775A>C	ENSP00000508792.1:n.*775A>C
ENST00000691504.1:n.3493A>C
ENST00000692155.1:c.3679A>C	ENSP00000510290.1:n.3679A>C
ENST00000692746.1:n.3506A>C
ENST00000693386.1:c.3503A>C	ENSP00000510003.1:p.Glu1168Ala
ENST00000693433.1:n.3493A>C
ENST00000693714.1:n.3546A>C
ENST00000693728.1:c.3503A>C	ENSP00000510580.1:p.Glu1168Ala
ENST00000349780.9:c.3599A>C MANE Select	ENSP00000343818.4:p.Glu1200Ala
ENST00000349780.8:c.3599A>C	ENSP00000343818.4:p.Glu1200Ala
ENST00000360190.8:c.3599A>C	ENSP00000353317.4:p.Glu1200Ala
ENST00000360822.7:c.2909A>C	ENSP00000354065.4:p.Glu970Ala
ENST00000416449.5:c.1781A>C	ENSP00000400395.1:p.Glu594Ala
ENST00000425647.1:c.629A>C	ENSP00000409941.1:p.Glu210Ala
ENST00000468989.1:n.573A>C
ENST00000473282.6:c.*2423A>C	ENSP00000419265.1:n.*2423A>C
ENST00000480112.5:c.*1426A>C	ENSP00000418418.1:n.*1426A>C
ENST00000483412.5:n.2907A>C
NM_001011649.2:c.3599A>C	NP_001011649.1:p.Glu1200Ala
NM_001272039.1:c.2909A>C	NP_001258968.1:p.Glu970Ala
NM_018249.5:c.3599A>C	NP_060719.4:p.Glu1200Ala
NR_073554.1:n.3868A>C
NR_073555.1:n.3791A>C
NR_073556.1:n.3998A>C
NR_073557.1:n.3871A>C
NR_073558.1:n.3868A>C
XM_006717182.1:c.3503A>C	XP_006717245.1:p.Glu1168Ala
XM_006717185.1:c.2912A>C	XP_006717248.1:p.Glu971Ala
XM_011518860.1:c.3596A>C	XP_011517162.1:p.Glu1199Ala
XM_011518861.1:c.3596A>C	XP_011517163.1:p.Glu1199Ala
XM_017014921.1:c.3500A>C	XP_016870410.1:p.Glu1167Ala
XM_017014922.1:c.2765A>C	XP_016870411.1:p.Glu922Ala
XM_017014923.1:c.2912A>C	XP_016870412.1:p.Glu971Ala
XM_017014924.1:c.1394A>C	XP_016870413.1:p.Glu465Ala
NM_018249.6:c.3599A>C MANE Select	NP_060719.4:p.Glu1200Ala
NM_001011649.3:c.3599A>C	NP_001011649.1:p.Glu1200Ala
NR_073554.2:n.3865A>C
NR_073555.2:n.3788A>C
NR_073556.2:n.3995A>C
NR_073557.2:n.3868A>C
NR_073558.2:n.3865A>C
NM_001272039.2:c.2909A>C	NP_001258968.1:p.Glu970Ala