Canonical Allele Identifier: CA374721003

Gene: CDK5RAP2

Linked Data

• gnomAD v4: 9-120439447-C-G
• MyVariant Identifiers: chr9:g.123201725C>G (hg19) ; chr9:g.120439447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439447C>G , CM000671.2:g.120439447C>G	GRCh38
NC_000009.11:g.123201725C>G , CM000671.1:g.123201725C>G	GRCh37
NC_000009.10:g.122241546C>G	NCBI36
NG_008999.1:g.145713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2984G>C	ENSP00000354065.4:p.Ser995Thr
ENST00000416449.6:c.3578G>C	ENSP00000400395.2:p.Ser1193Thr
ENST00000479584.2:n.1921G>C
ENST00000684780.1:n.3964G>C
ENST00000685866.1:c.*1501G>C	ENSP00000509484.1:n.*1501G>C
ENST00000686376.1:c.3754G>C	ENSP00000510021.1:n.3754G>C
ENST00000686842.1:n.7228G>C
ENST00000687279.1:c.3671G>C	ENSP00000508692.1:p.Ser1224Thr
ENST00000687311.1:n.3637G>C
ENST00000687633.1:c.3575G>C	ENSP00000510289.1:p.Ser1192Thr
ENST00000688923.1:n.3046G>C
ENST00000689688.1:c.3674G>C	ENSP00000510155.1:p.Ser1225Thr
ENST00000690646.1:c.3578G>C	ENSP00000510383.1:p.Ser1193Thr
ENST00000690814.1:c.*850G>C	ENSP00000508792.1:n.*850G>C
ENST00000691504.1:n.3568G>C
ENST00000692155.1:c.3754G>C	ENSP00000510290.1:n.3754G>C
ENST00000692746.1:n.3581G>C
ENST00000693386.1:c.3578G>C	ENSP00000510003.1:p.Ser1193Thr
ENST00000693433.1:n.3568G>C
ENST00000693714.1:n.3621G>C
ENST00000693728.1:c.3578G>C	ENSP00000510580.1:p.Ser1193Thr
ENST00000349780.9:c.3674G>C MANE Select	ENSP00000343818.4:p.Ser1225Thr
ENST00000349780.8:c.3674G>C	ENSP00000343818.4:p.Ser1225Thr
ENST00000360190.8:c.3674G>C	ENSP00000353317.4:p.Ser1225Thr
ENST00000360822.7:c.2984G>C	ENSP00000354065.4:p.Ser995Thr
ENST00000416449.5:c.1856G>C	ENSP00000400395.1:p.Ser619Thr
ENST00000425647.1:c.704G>C	ENSP00000409941.1:p.Ser235Thr
ENST00000473282.6:c.*2498G>C	ENSP00000419265.1:n.*2498G>C
ENST00000480112.5:c.*1501G>C	ENSP00000418418.1:n.*1501G>C
ENST00000483412.5:n.2982G>C
NM_001011649.2:c.3674G>C	NP_001011649.1:p.Ser1225Thr
NM_001272039.1:c.2984G>C	NP_001258968.1:p.Ser995Thr
NM_018249.5:c.3674G>C	NP_060719.4:p.Ser1225Thr
NR_073554.1:n.3943G>C
NR_073555.1:n.3866G>C
NR_073556.1:n.4073G>C
NR_073557.1:n.3946G>C
NR_073558.1:n.3943G>C
XM_006717182.1:c.3578G>C	XP_006717245.1:p.Ser1193Thr
XM_006717185.1:c.2987G>C	XP_006717248.1:p.Ser996Thr
XM_011518860.1:c.3671G>C	XP_011517162.1:p.Ser1224Thr
XM_011518861.1:c.3671G>C	XP_011517163.1:p.Ser1224Thr
XM_017014921.1:c.3575G>C	XP_016870410.1:p.Ser1192Thr
XM_017014922.1:c.2840G>C	XP_016870411.1:p.Ser947Thr
XM_017014923.1:c.2987G>C	XP_016870412.1:p.Ser996Thr
XM_017014924.1:c.1469G>C	XP_016870413.1:p.Ser490Thr
NM_018249.6:c.3674G>C MANE Select	NP_060719.4:p.Ser1225Thr
NM_001011649.3:c.3674G>C	NP_001011649.1:p.Ser1225Thr
NR_073554.2:n.3940G>C
NR_073555.2:n.3863G>C
NR_073556.2:n.4070G>C
NR_073557.2:n.3943G>C
NR_073558.2:n.3940G>C
NM_001272039.2:c.2984G>C	NP_001258968.1:p.Ser995Thr