Canonical Allele Identifier: CA374721007

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201727G>T (hg19) ; chr9:g.120439449G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439449G>T , CM000671.2:g.120439449G>T	GRCh38
NC_000009.11:g.123201727G>T , CM000671.1:g.123201727G>T	GRCh37
NC_000009.10:g.122241548G>T	NCBI36
NG_008999.1:g.145711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2982C>A	ENSP00000354065.4:p.Phe994Leu
ENST00000416449.6:c.3576C>A	ENSP00000400395.2:p.Phe1192Leu
ENST00000479584.2:n.1919C>A
ENST00000684780.1:n.3962C>A
ENST00000685866.1:c.*1499C>A	ENSP00000509484.1:n.*1499C>A
ENST00000686376.1:c.3752C>A	ENSP00000510021.1:n.3752C>A
ENST00000686842.1:n.7226C>A
ENST00000687279.1:c.3669C>A	ENSP00000508692.1:p.Phe1223Leu
ENST00000687311.1:n.3635C>A
ENST00000687633.1:c.3573C>A	ENSP00000510289.1:p.Phe1191Leu
ENST00000688923.1:n.3044C>A
ENST00000689688.1:c.3672C>A	ENSP00000510155.1:p.Phe1224Leu
ENST00000690646.1:c.3576C>A	ENSP00000510383.1:p.Phe1192Leu
ENST00000690814.1:c.*848C>A	ENSP00000508792.1:n.*848C>A
ENST00000691504.1:n.3566C>A
ENST00000692155.1:c.3752C>A	ENSP00000510290.1:n.3752C>A
ENST00000692746.1:n.3579C>A
ENST00000693386.1:c.3576C>A	ENSP00000510003.1:p.Phe1192Leu
ENST00000693433.1:n.3566C>A
ENST00000693714.1:n.3619C>A
ENST00000693728.1:c.3576C>A	ENSP00000510580.1:p.Phe1192Leu
ENST00000349780.9:c.3672C>A MANE Select	ENSP00000343818.4:p.Phe1224Leu
ENST00000349780.8:c.3672C>A	ENSP00000343818.4:p.Phe1224Leu
ENST00000360190.8:c.3672C>A	ENSP00000353317.4:p.Phe1224Leu
ENST00000360822.7:c.2982C>A	ENSP00000354065.4:p.Phe994Leu
ENST00000416449.5:c.1854C>A	ENSP00000400395.1:p.Phe618Leu
ENST00000425647.1:c.702C>A	ENSP00000409941.1:p.Phe234Leu
ENST00000473282.6:c.*2496C>A	ENSP00000419265.1:n.*2496C>A
ENST00000480112.5:c.*1499C>A	ENSP00000418418.1:n.*1499C>A
ENST00000483412.5:n.2980C>A
NM_001011649.2:c.3672C>A	NP_001011649.1:p.Phe1224Leu
NM_001272039.1:c.2982C>A	NP_001258968.1:p.Phe994Leu
NM_018249.5:c.3672C>A	NP_060719.4:p.Phe1224Leu
NR_073554.1:n.3941C>A
NR_073555.1:n.3864C>A
NR_073556.1:n.4071C>A
NR_073557.1:n.3944C>A
NR_073558.1:n.3941C>A
XM_006717182.1:c.3576C>A	XP_006717245.1:p.Phe1192Leu
XM_006717185.1:c.2985C>A	XP_006717248.1:p.Phe995Leu
XM_011518860.1:c.3669C>A	XP_011517162.1:p.Phe1223Leu
XM_011518861.1:c.3669C>A	XP_011517163.1:p.Phe1223Leu
XM_017014921.1:c.3573C>A	XP_016870410.1:p.Phe1191Leu
XM_017014922.1:c.2838C>A	XP_016870411.1:p.Phe946Leu
XM_017014923.1:c.2985C>A	XP_016870412.1:p.Phe995Leu
XM_017014924.1:c.1467C>A	XP_016870413.1:p.Phe489Leu
NM_018249.6:c.3672C>A MANE Select	NP_060719.4:p.Phe1224Leu
NM_001011649.3:c.3672C>A	NP_001011649.1:p.Phe1224Leu
NR_073554.2:n.3938C>A
NR_073555.2:n.3861C>A
NR_073556.2:n.4068C>A
NR_073557.2:n.3941C>A
NR_073558.2:n.3938C>A
NM_001272039.2:c.2982C>A	NP_001258968.1:p.Phe994Leu