Canonical Allele Identifier: CA374721191

Gene: CDK5RAP2

Linked Data

• COSMIC: COSM1459679
• MyVariant Identifiers: chr9:g.123201804G>T (hg19) ; chr9:g.120439526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439526G>T , CM000671.2:g.120439526G>T	GRCh38
NC_000009.11:g.123201804G>T , CM000671.1:g.123201804G>T	GRCh37
NC_000009.10:g.122241625G>T	NCBI36
NG_008999.1:g.145634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2905C>A	ENSP00000354065.4:p.Leu969Met
ENST00000416449.6:c.3499C>A	ENSP00000400395.2:p.Leu1167Met
ENST00000479584.2:n.1842C>A
ENST00000684780.1:n.3885C>A
ENST00000685866.1:c.*1422C>A	ENSP00000509484.1:n.*1422C>A
ENST00000686376.1:c.3675C>A	ENSP00000510021.1:n.3675C>A
ENST00000686842.1:n.7149C>A
ENST00000687279.1:c.3592C>A	ENSP00000508692.1:p.Leu1198Met
ENST00000687311.1:n.3558C>A
ENST00000687633.1:c.3496C>A	ENSP00000510289.1:p.Leu1166Met
ENST00000688923.1:n.2967C>A
ENST00000689688.1:c.3595C>A	ENSP00000510155.1:p.Leu1199Met
ENST00000690646.1:c.3499C>A	ENSP00000510383.1:p.Leu1167Met
ENST00000690814.1:c.*771C>A	ENSP00000508792.1:n.*771C>A
ENST00000691504.1:n.3489C>A
ENST00000692155.1:c.3675C>A	ENSP00000510290.1:n.3675C>A
ENST00000692746.1:n.3502C>A
ENST00000693386.1:c.3499C>A	ENSP00000510003.1:p.Leu1167Met
ENST00000693433.1:n.3489C>A
ENST00000693714.1:n.3542C>A
ENST00000693728.1:c.3499C>A	ENSP00000510580.1:p.Leu1167Met
ENST00000349780.9:c.3595C>A MANE Select	ENSP00000343818.4:p.Leu1199Met
ENST00000349780.8:c.3595C>A	ENSP00000343818.4:p.Leu1199Met
ENST00000360190.8:c.3595C>A	ENSP00000353317.4:p.Leu1199Met
ENST00000360822.7:c.2905C>A	ENSP00000354065.4:p.Leu969Met
ENST00000416449.5:c.1777C>A	ENSP00000400395.1:p.Leu593Met
ENST00000425647.1:c.625C>A	ENSP00000409941.1:p.Leu209Met
ENST00000468989.1:n.569C>A
ENST00000473282.6:c.*2419C>A	ENSP00000419265.1:n.*2419C>A
ENST00000480112.5:c.*1422C>A	ENSP00000418418.1:n.*1422C>A
ENST00000483412.5:n.2903C>A
NM_001011649.2:c.3595C>A	NP_001011649.1:p.Leu1199Met
NM_001272039.1:c.2905C>A	NP_001258968.1:p.Leu969Met
NM_018249.5:c.3595C>A	NP_060719.4:p.Leu1199Met
NR_073554.1:n.3864C>A
NR_073555.1:n.3787C>A
NR_073556.1:n.3994C>A
NR_073557.1:n.3867C>A
NR_073558.1:n.3864C>A
XM_006717182.1:c.3499C>A	XP_006717245.1:p.Leu1167Met
XM_006717185.1:c.2908C>A	XP_006717248.1:p.Leu970Met
XM_011518860.1:c.3592C>A	XP_011517162.1:p.Leu1198Met
XM_011518861.1:c.3592C>A	XP_011517163.1:p.Leu1198Met
XM_017014921.1:c.3496C>A	XP_016870410.1:p.Leu1166Met
XM_017014922.1:c.2761C>A	XP_016870411.1:p.Leu921Met
XM_017014923.1:c.2908C>A	XP_016870412.1:p.Leu970Met
XM_017014924.1:c.1390C>A	XP_016870413.1:p.Leu464Met
NM_018249.6:c.3595C>A MANE Select	NP_060719.4:p.Leu1199Met
NM_001011649.3:c.3595C>A	NP_001011649.1:p.Leu1199Met
NR_073554.2:n.3861C>A
NR_073555.2:n.3784C>A
NR_073556.2:n.3991C>A
NR_073557.2:n.3864C>A
NR_073558.2:n.3861C>A
NM_001272039.2:c.2905C>A	NP_001258968.1:p.Leu969Met