Canonical Allele Identifier: CA374721156

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs1283619560
• gnomAD v2: 9-123201788-T-C
• MyVariant Identifiers: chr9:g.123201788T>C (hg19) ; chr9:g.120439510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439510T>C , CM000671.2:g.120439510T>C	GRCh38
NC_000009.11:g.123201788T>C , CM000671.1:g.123201788T>C	GRCh37
NC_000009.10:g.122241609T>C	NCBI36
NG_008999.1:g.145650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2921A>G	ENSP00000354065.4:p.Gln974Arg
ENST00000416449.6:c.3515A>G	ENSP00000400395.2:p.Gln1172Arg
ENST00000479584.2:n.1858A>G
ENST00000684780.1:n.3901A>G
ENST00000685866.1:c.*1438A>G	ENSP00000509484.1:n.*1438A>G
ENST00000686376.1:c.3691A>G	ENSP00000510021.1:n.3691A>G
ENST00000686842.1:n.7165A>G
ENST00000687279.1:c.3608A>G	ENSP00000508692.1:p.Gln1203Arg
ENST00000687311.1:n.3574A>G
ENST00000687633.1:c.3512A>G	ENSP00000510289.1:p.Gln1171Arg
ENST00000688923.1:n.2983A>G
ENST00000689688.1:c.3611A>G	ENSP00000510155.1:p.Gln1204Arg
ENST00000690646.1:c.3515A>G	ENSP00000510383.1:p.Gln1172Arg
ENST00000690814.1:c.*787A>G	ENSP00000508792.1:n.*787A>G
ENST00000691504.1:n.3505A>G
ENST00000692155.1:c.3691A>G	ENSP00000510290.1:n.3691A>G
ENST00000692746.1:n.3518A>G
ENST00000693386.1:c.3515A>G	ENSP00000510003.1:p.Gln1172Arg
ENST00000693433.1:n.3505A>G
ENST00000693714.1:n.3558A>G
ENST00000693728.1:c.3515A>G	ENSP00000510580.1:p.Gln1172Arg
ENST00000349780.9:c.3611A>G MANE Select	ENSP00000343818.4:p.Gln1204Arg
ENST00000349780.8:c.3611A>G	ENSP00000343818.4:p.Gln1204Arg
ENST00000360190.8:c.3611A>G	ENSP00000353317.4:p.Gln1204Arg
ENST00000360822.7:c.2921A>G	ENSP00000354065.4:p.Gln974Arg
ENST00000416449.5:c.1793A>G	ENSP00000400395.1:p.Gln598Arg
ENST00000425647.1:c.641A>G	ENSP00000409941.1:p.Gln214Arg
ENST00000473282.6:c.*2435A>G	ENSP00000419265.1:n.*2435A>G
ENST00000480112.5:c.*1438A>G	ENSP00000418418.1:n.*1438A>G
ENST00000483412.5:n.2919A>G
NM_001011649.2:c.3611A>G	NP_001011649.1:p.Gln1204Arg
NM_001272039.1:c.2921A>G	NP_001258968.1:p.Gln974Arg
NM_018249.5:c.3611A>G	NP_060719.4:p.Gln1204Arg
NR_073554.1:n.3880A>G
NR_073555.1:n.3803A>G
NR_073556.1:n.4010A>G
NR_073557.1:n.3883A>G
NR_073558.1:n.3880A>G
XM_006717182.1:c.3515A>G	XP_006717245.1:p.Gln1172Arg
XM_006717185.1:c.2924A>G	XP_006717248.1:p.Gln975Arg
XM_011518860.1:c.3608A>G	XP_011517162.1:p.Gln1203Arg
XM_011518861.1:c.3608A>G	XP_011517163.1:p.Gln1203Arg
XM_017014921.1:c.3512A>G	XP_016870410.1:p.Gln1171Arg
XM_017014922.1:c.2777A>G	XP_016870411.1:p.Gln926Arg
XM_017014923.1:c.2924A>G	XP_016870412.1:p.Gln975Arg
XM_017014924.1:c.1406A>G	XP_016870413.1:p.Gln469Arg
NM_018249.6:c.3611A>G MANE Select	NP_060719.4:p.Gln1204Arg
NM_001011649.3:c.3611A>G	NP_001011649.1:p.Gln1204Arg
NR_073554.2:n.3877A>G
NR_073555.2:n.3800A>G
NR_073556.2:n.4007A>G
NR_073557.2:n.3880A>G
NR_073558.2:n.3877A>G
NM_001272039.2:c.2921A>G	NP_001258968.1:p.Gln974Arg