Canonical Allele Identifier: CA374721142

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201782A>T (hg19) ; chr9:g.120439504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439504A>T , CM000671.2:g.120439504A>T	GRCh38
NC_000009.11:g.123201782A>T , CM000671.1:g.123201782A>T	GRCh37
NC_000009.10:g.122241603A>T	NCBI36
NG_008999.1:g.145656T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2927T>A	ENSP00000354065.4:p.Leu976Gln
ENST00000416449.6:c.3521T>A	ENSP00000400395.2:p.Leu1174Gln
ENST00000479584.2:n.1864T>A
ENST00000684780.1:n.3907T>A
ENST00000685866.1:c.*1444T>A	ENSP00000509484.1:n.*1444T>A
ENST00000686376.1:c.3697T>A	ENSP00000510021.1:n.3697T>A
ENST00000686842.1:n.7171T>A
ENST00000687279.1:c.3614T>A	ENSP00000508692.1:p.Leu1205Gln
ENST00000687311.1:n.3580T>A
ENST00000687633.1:c.3518T>A	ENSP00000510289.1:p.Leu1173Gln
ENST00000688923.1:n.2989T>A
ENST00000689688.1:c.3617T>A	ENSP00000510155.1:p.Leu1206Gln
ENST00000690646.1:c.3521T>A	ENSP00000510383.1:p.Leu1174Gln
ENST00000690814.1:c.*793T>A	ENSP00000508792.1:n.*793T>A
ENST00000691504.1:n.3511T>A
ENST00000692155.1:c.3697T>A	ENSP00000510290.1:n.3697T>A
ENST00000692746.1:n.3524T>A
ENST00000693386.1:c.3521T>A	ENSP00000510003.1:p.Leu1174Gln
ENST00000693433.1:n.3511T>A
ENST00000693714.1:n.3564T>A
ENST00000693728.1:c.3521T>A	ENSP00000510580.1:p.Leu1174Gln
ENST00000349780.9:c.3617T>A MANE Select	ENSP00000343818.4:p.Leu1206Gln
ENST00000349780.8:c.3617T>A	ENSP00000343818.4:p.Leu1206Gln
ENST00000360190.8:c.3617T>A	ENSP00000353317.4:p.Leu1206Gln
ENST00000360822.7:c.2927T>A	ENSP00000354065.4:p.Leu976Gln
ENST00000416449.5:c.1799T>A	ENSP00000400395.1:p.Leu600Gln
ENST00000425647.1:c.647T>A	ENSP00000409941.1:p.Leu216Gln
ENST00000473282.6:c.*2441T>A	ENSP00000419265.1:n.*2441T>A
ENST00000480112.5:c.*1444T>A	ENSP00000418418.1:n.*1444T>A
ENST00000483412.5:n.2925T>A
NM_001011649.2:c.3617T>A	NP_001011649.1:p.Leu1206Gln
NM_001272039.1:c.2927T>A	NP_001258968.1:p.Leu976Gln
NM_018249.5:c.3617T>A	NP_060719.4:p.Leu1206Gln
NR_073554.1:n.3886T>A
NR_073555.1:n.3809T>A
NR_073556.1:n.4016T>A
NR_073557.1:n.3889T>A
NR_073558.1:n.3886T>A
XM_006717182.1:c.3521T>A	XP_006717245.1:p.Leu1174Gln
XM_006717185.1:c.2930T>A	XP_006717248.1:p.Leu977Gln
XM_011518860.1:c.3614T>A	XP_011517162.1:p.Leu1205Gln
XM_011518861.1:c.3614T>A	XP_011517163.1:p.Leu1205Gln
XM_017014921.1:c.3518T>A	XP_016870410.1:p.Leu1173Gln
XM_017014922.1:c.2783T>A	XP_016870411.1:p.Leu928Gln
XM_017014923.1:c.2930T>A	XP_016870412.1:p.Leu977Gln
XM_017014924.1:c.1412T>A	XP_016870413.1:p.Leu471Gln
NM_018249.6:c.3617T>A MANE Select	NP_060719.4:p.Leu1206Gln
NM_001011649.3:c.3617T>A	NP_001011649.1:p.Leu1206Gln
NR_073554.2:n.3883T>A
NR_073555.2:n.3806T>A
NR_073556.2:n.4013T>A
NR_073557.2:n.3886T>A
NR_073558.2:n.3883T>A
NM_001272039.2:c.2927T>A	NP_001258968.1:p.Leu976Gln