Canonical Allele Identifier: CA374721190

Gene: CDK5RAP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2905C>G	ENSP00000354065.4:p.Leu969Val
ENST00000416449.6:c.3499C>G	ENSP00000400395.2:p.Leu1167Val
ENST00000479584.2:n.1842C>G
ENST00000684780.1:n.3885C>G
ENST00000685866.1:c.*1422C>G	ENSP00000509484.1:n.*1422C>G
ENST00000686376.1:c.3675C>G	ENSP00000510021.1:n.3675C>G
ENST00000686842.1:n.7149C>G
ENST00000687279.1:c.3592C>G	ENSP00000508692.1:p.Leu1198Val
ENST00000687311.1:n.3558C>G
ENST00000687633.1:c.3496C>G	ENSP00000510289.1:p.Leu1166Val
ENST00000688923.1:n.2967C>G
ENST00000689688.1:c.3595C>G	ENSP00000510155.1:p.Leu1199Val
ENST00000690646.1:c.3499C>G	ENSP00000510383.1:p.Leu1167Val
ENST00000690814.1:c.*771C>G	ENSP00000508792.1:n.*771C>G
ENST00000691504.1:n.3489C>G
ENST00000692155.1:c.3675C>G	ENSP00000510290.1:n.3675C>G
ENST00000692746.1:n.3502C>G
ENST00000693386.1:c.3499C>G	ENSP00000510003.1:p.Leu1167Val
ENST00000693433.1:n.3489C>G
ENST00000693714.1:n.3542C>G
ENST00000693728.1:c.3499C>G	ENSP00000510580.1:p.Leu1167Val
ENST00000349780.9:c.3595C>G MANE Select	ENSP00000343818.4:p.Leu1199Val
ENST00000349780.8:c.3595C>G	ENSP00000343818.4:p.Leu1199Val
ENST00000360190.8:c.3595C>G	ENSP00000353317.4:p.Leu1199Val
ENST00000360822.7:c.2905C>G	ENSP00000354065.4:p.Leu969Val
ENST00000416449.5:c.1777C>G	ENSP00000400395.1:p.Leu593Val
ENST00000425647.1:c.625C>G	ENSP00000409941.1:p.Leu209Val
ENST00000468989.1:n.569C>G
ENST00000473282.6:c.*2419C>G	ENSP00000419265.1:n.*2419C>G
ENST00000480112.5:c.*1422C>G	ENSP00000418418.1:n.*1422C>G
ENST00000483412.5:n.2903C>G
NM_001011649.2:c.3595C>G	NP_001011649.1:p.Leu1199Val
NM_001272039.1:c.2905C>G	NP_001258968.1:p.Leu969Val
NM_018249.5:c.3595C>G	NP_060719.4:p.Leu1199Val
NR_073554.1:n.3864C>G
NR_073555.1:n.3787C>G
NR_073556.1:n.3994C>G
NR_073557.1:n.3867C>G
NR_073558.1:n.3864C>G
XM_006717182.1:c.3499C>G	XP_006717245.1:p.Leu1167Val
XM_006717185.1:c.2908C>G	XP_006717248.1:p.Leu970Val
XM_011518860.1:c.3592C>G	XP_011517162.1:p.Leu1198Val
XM_011518861.1:c.3592C>G	XP_011517163.1:p.Leu1198Val
XM_017014921.1:c.3496C>G	XP_016870410.1:p.Leu1166Val
XM_017014922.1:c.2761C>G	XP_016870411.1:p.Leu921Val
XM_017014923.1:c.2908C>G	XP_016870412.1:p.Leu970Val
XM_017014924.1:c.1390C>G	XP_016870413.1:p.Leu464Val
NM_018249.6:c.3595C>G MANE Select	NP_060719.4:p.Leu1199Val
NM_001011649.3:c.3595C>G	NP_001011649.1:p.Leu1199Val
NR_073554.2:n.3861C>G
NR_073555.2:n.3784C>G
NR_073556.2:n.3991C>G
NR_073557.2:n.3864C>G
NR_073558.2:n.3861C>G
NM_001272039.2:c.2905C>G	NP_001258968.1:p.Leu969Val