Canonical Allele Identifier: CA374721138

Gene: CDK5RAP2

Linked Data

• gnomAD v4: 9-120439502-C-G
• MyVariant Identifiers: chr9:g.123201780C>G (hg19) ; chr9:g.120439502C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439502C>G , CM000671.2:g.120439502C>G	GRCh38
NC_000009.11:g.123201780C>G , CM000671.1:g.123201780C>G	GRCh37
NC_000009.10:g.122241601C>G	NCBI36
NG_008999.1:g.145658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2929G>C	ENSP00000354065.4:p.Glu977Gln
ENST00000416449.6:c.3523G>C	ENSP00000400395.2:p.Glu1175Gln
ENST00000479584.2:n.1866G>C
ENST00000684780.1:n.3909G>C
ENST00000685866.1:c.*1446G>C	ENSP00000509484.1:n.*1446G>C
ENST00000686376.1:c.3699G>C	ENSP00000510021.1:n.3699G>C
ENST00000686842.1:n.7173G>C
ENST00000687279.1:c.3616G>C	ENSP00000508692.1:p.Glu1206Gln
ENST00000687311.1:n.3582G>C
ENST00000687633.1:c.3520G>C	ENSP00000510289.1:p.Glu1174Gln
ENST00000688923.1:n.2991G>C
ENST00000689688.1:c.3619G>C	ENSP00000510155.1:p.Glu1207Gln
ENST00000690646.1:c.3523G>C	ENSP00000510383.1:p.Glu1175Gln
ENST00000690814.1:c.*795G>C	ENSP00000508792.1:n.*795G>C
ENST00000691504.1:n.3513G>C
ENST00000692155.1:c.3699G>C	ENSP00000510290.1:n.3699G>C
ENST00000692746.1:n.3526G>C
ENST00000693386.1:c.3523G>C	ENSP00000510003.1:p.Glu1175Gln
ENST00000693433.1:n.3513G>C
ENST00000693714.1:n.3566G>C
ENST00000693728.1:c.3523G>C	ENSP00000510580.1:p.Glu1175Gln
ENST00000349780.9:c.3619G>C MANE Select	ENSP00000343818.4:p.Glu1207Gln
ENST00000349780.8:c.3619G>C	ENSP00000343818.4:p.Glu1207Gln
ENST00000360190.8:c.3619G>C	ENSP00000353317.4:p.Glu1207Gln
ENST00000360822.7:c.2929G>C	ENSP00000354065.4:p.Glu977Gln
ENST00000416449.5:c.1801G>C	ENSP00000400395.1:p.Glu601Gln
ENST00000425647.1:c.649G>C	ENSP00000409941.1:p.Glu217Gln
ENST00000473282.6:c.*2443G>C	ENSP00000419265.1:n.*2443G>C
ENST00000480112.5:c.*1446G>C	ENSP00000418418.1:n.*1446G>C
ENST00000483412.5:n.2927G>C
NM_001011649.2:c.3619G>C	NP_001011649.1:p.Glu1207Gln
NM_001272039.1:c.2929G>C	NP_001258968.1:p.Glu977Gln
NM_018249.5:c.3619G>C	NP_060719.4:p.Glu1207Gln
NR_073554.1:n.3888G>C
NR_073555.1:n.3811G>C
NR_073556.1:n.4018G>C
NR_073557.1:n.3891G>C
NR_073558.1:n.3888G>C
XM_006717182.1:c.3523G>C	XP_006717245.1:p.Glu1175Gln
XM_006717185.1:c.2932G>C	XP_006717248.1:p.Glu978Gln
XM_011518860.1:c.3616G>C	XP_011517162.1:p.Glu1206Gln
XM_011518861.1:c.3616G>C	XP_011517163.1:p.Glu1206Gln
XM_017014921.1:c.3520G>C	XP_016870410.1:p.Glu1174Gln
XM_017014922.1:c.2785G>C	XP_016870411.1:p.Glu929Gln
XM_017014923.1:c.2932G>C	XP_016870412.1:p.Glu978Gln
XM_017014924.1:c.1414G>C	XP_016870413.1:p.Glu472Gln
NM_018249.6:c.3619G>C MANE Select	NP_060719.4:p.Glu1207Gln
NM_001011649.3:c.3619G>C	NP_001011649.1:p.Glu1207Gln
NR_073554.2:n.3885G>C
NR_073555.2:n.3808G>C
NR_073556.2:n.4015G>C
NR_073557.2:n.3888G>C
NR_073558.2:n.3885G>C
NM_001272039.2:c.2929G>C	NP_001258968.1:p.Glu977Gln