Canonical Allele Identifier: CA374720921

Gene: CDK5RAP2

Linked Data

• COSMIC: COSM3725013
• MyVariant Identifiers: chr9:g.123201690G>A (hg19) ; chr9:g.120439412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439412G>A , CM000671.2:g.120439412G>A	GRCh38
NC_000009.11:g.123201690G>A , CM000671.1:g.123201690G>A	GRCh37
NC_000009.10:g.122241511G>A	NCBI36
NG_008999.1:g.145748C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.3019C>T	ENSP00000354065.4:p.Leu1007Phe
ENST00000416449.6:c.3613C>T	ENSP00000400395.2:p.Leu1205Phe
ENST00000479584.2:n.1956C>T
ENST00000684780.1:n.3999C>T
ENST00000685866.1:c.*1536C>T	ENSP00000509484.1:n.*1536C>T
ENST00000686376.1:c.3789C>T	ENSP00000510021.1:n.3789C>T
ENST00000686842.1:n.7263C>T
ENST00000687279.1:c.3706C>T	ENSP00000508692.1:p.Leu1236Phe
ENST00000687311.1:n.3672C>T
ENST00000687633.1:c.3610C>T	ENSP00000510289.1:p.Leu1204Phe
ENST00000688923.1:n.3081C>T
ENST00000689688.1:c.3709C>T	ENSP00000510155.1:p.Leu1237Phe
ENST00000690646.1:c.3613C>T	ENSP00000510383.1:p.Leu1205Phe
ENST00000690814.1:c.*885C>T	ENSP00000508792.1:n.*885C>T
ENST00000691504.1:n.3603C>T
ENST00000692155.1:c.3789C>T	ENSP00000510290.1:n.3789C>T
ENST00000692746.1:n.3616C>T
ENST00000693386.1:c.3613C>T	ENSP00000510003.1:p.Leu1205Phe
ENST00000693433.1:n.3603C>T
ENST00000693714.1:n.3656C>T
ENST00000693728.1:c.3613C>T	ENSP00000510580.1:p.Leu1205Phe
ENST00000349780.9:c.3709C>T MANE Select	ENSP00000343818.4:p.Leu1237Phe
ENST00000349780.8:c.3709C>T	ENSP00000343818.4:p.Leu1237Phe
ENST00000360190.8:c.3709C>T	ENSP00000353317.4:p.Leu1237Phe
ENST00000360822.7:c.3019C>T	ENSP00000354065.4:p.Leu1007Phe
ENST00000416449.5:c.1891C>T	ENSP00000400395.1:p.Leu631Phe
ENST00000425647.1:c.739C>T	ENSP00000409941.1:p.Leu247Phe
ENST00000473282.6:c.*2533C>T	ENSP00000419265.1:n.*2533C>T
ENST00000480112.5:c.*1536C>T	ENSP00000418418.1:n.*1536C>T
ENST00000483412.5:n.3017C>T
NM_001011649.2:c.3709C>T	NP_001011649.1:p.Leu1237Phe
NM_001272039.1:c.3019C>T	NP_001258968.1:p.Leu1007Phe
NM_018249.5:c.3709C>T	NP_060719.4:p.Leu1237Phe
NR_073554.1:n.3978C>T
NR_073555.1:n.3901C>T
NR_073556.1:n.4108C>T
NR_073557.1:n.3981C>T
NR_073558.1:n.3978C>T
XM_006717182.1:c.3613C>T	XP_006717245.1:p.Leu1205Phe
XM_006717185.1:c.3022C>T	XP_006717248.1:p.Leu1008Phe
XM_011518860.1:c.3706C>T	XP_011517162.1:p.Leu1236Phe
XM_011518861.1:c.3706C>T	XP_011517163.1:p.Leu1236Phe
XM_017014921.1:c.3610C>T	XP_016870410.1:p.Leu1204Phe
XM_017014922.1:c.2875C>T	XP_016870411.1:p.Leu959Phe
XM_017014923.1:c.3022C>T	XP_016870412.1:p.Leu1008Phe
XM_017014924.1:c.1504C>T	XP_016870413.1:p.Leu502Phe
NM_018249.6:c.3709C>T MANE Select	NP_060719.4:p.Leu1237Phe
NM_001011649.3:c.3709C>T	NP_001011649.1:p.Leu1237Phe
NR_073554.2:n.3975C>T
NR_073555.2:n.3898C>T
NR_073556.2:n.4105C>T
NR_073557.2:n.3978C>T
NR_073558.2:n.3975C>T
NM_001272039.2:c.3019C>T	NP_001258968.1:p.Leu1007Phe