Canonical Allele Identifier: CA374721091

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201761A>C (hg19) ; chr9:g.120439483A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439483A>C , CM000671.2:g.120439483A>C	GRCh38
NC_000009.11:g.123201761A>C , CM000671.1:g.123201761A>C	GRCh37
NC_000009.10:g.122241582A>C	NCBI36
NG_008999.1:g.145677T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2948T>G	ENSP00000354065.4:p.Leu983Arg
ENST00000416449.6:c.3542T>G	ENSP00000400395.2:p.Leu1181Arg
ENST00000479584.2:n.1885T>G
ENST00000684780.1:n.3928T>G
ENST00000685866.1:c.*1465T>G	ENSP00000509484.1:n.*1465T>G
ENST00000686376.1:c.3718T>G	ENSP00000510021.1:n.3718T>G
ENST00000686842.1:n.7192T>G
ENST00000687279.1:c.3635T>G	ENSP00000508692.1:p.Leu1212Arg
ENST00000687311.1:n.3601T>G
ENST00000687633.1:c.3539T>G	ENSP00000510289.1:p.Leu1180Arg
ENST00000688923.1:n.3010T>G
ENST00000689688.1:c.3638T>G	ENSP00000510155.1:p.Leu1213Arg
ENST00000690646.1:c.3542T>G	ENSP00000510383.1:p.Leu1181Arg
ENST00000690814.1:c.*814T>G	ENSP00000508792.1:n.*814T>G
ENST00000691504.1:n.3532T>G
ENST00000692155.1:c.3718T>G	ENSP00000510290.1:n.3718T>G
ENST00000692746.1:n.3545T>G
ENST00000693386.1:c.3542T>G	ENSP00000510003.1:p.Leu1181Arg
ENST00000693433.1:n.3532T>G
ENST00000693714.1:n.3585T>G
ENST00000693728.1:c.3542T>G	ENSP00000510580.1:p.Leu1181Arg
ENST00000349780.9:c.3638T>G MANE Select	ENSP00000343818.4:p.Leu1213Arg
ENST00000349780.8:c.3638T>G	ENSP00000343818.4:p.Leu1213Arg
ENST00000360190.8:c.3638T>G	ENSP00000353317.4:p.Leu1213Arg
ENST00000360822.7:c.2948T>G	ENSP00000354065.4:p.Leu983Arg
ENST00000416449.5:c.1820T>G	ENSP00000400395.1:p.Leu607Arg
ENST00000425647.1:c.668T>G	ENSP00000409941.1:p.Leu223Arg
ENST00000473282.6:c.*2462T>G	ENSP00000419265.1:n.*2462T>G
ENST00000480112.5:c.*1465T>G	ENSP00000418418.1:n.*1465T>G
ENST00000483412.5:n.2946T>G
NM_001011649.2:c.3638T>G	NP_001011649.1:p.Leu1213Arg
NM_001272039.1:c.2948T>G	NP_001258968.1:p.Leu983Arg
NM_018249.5:c.3638T>G	NP_060719.4:p.Leu1213Arg
NR_073554.1:n.3907T>G
NR_073555.1:n.3830T>G
NR_073556.1:n.4037T>G
NR_073557.1:n.3910T>G
NR_073558.1:n.3907T>G
XM_006717182.1:c.3542T>G	XP_006717245.1:p.Leu1181Arg
XM_006717185.1:c.2951T>G	XP_006717248.1:p.Leu984Arg
XM_011518860.1:c.3635T>G	XP_011517162.1:p.Leu1212Arg
XM_011518861.1:c.3635T>G	XP_011517163.1:p.Leu1212Arg
XM_017014921.1:c.3539T>G	XP_016870410.1:p.Leu1180Arg
XM_017014922.1:c.2804T>G	XP_016870411.1:p.Leu935Arg
XM_017014923.1:c.2951T>G	XP_016870412.1:p.Leu984Arg
XM_017014924.1:c.1433T>G	XP_016870413.1:p.Leu478Arg
NM_018249.6:c.3638T>G MANE Select	NP_060719.4:p.Leu1213Arg
NM_001011649.3:c.3638T>G	NP_001011649.1:p.Leu1213Arg
NR_073554.2:n.3904T>G
NR_073555.2:n.3827T>G
NR_073556.2:n.4034T>G
NR_073557.2:n.3907T>G
NR_073558.2:n.3904T>G
NM_001272039.2:c.2948T>G	NP_001258968.1:p.Leu983Arg