Canonical Allele Identifier: CA374720923

Gene: CDK5RAP2

Linked Data

• gnomAD v4: 9-120439412-G-T
• MyVariant Identifiers: chr9:g.123201690G>T (hg19) ; chr9:g.120439412G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.3019C>A	ENSP00000354065.4:p.Leu1007Ile
ENST00000416449.6:c.3613C>A	ENSP00000400395.2:p.Leu1205Ile
ENST00000479584.2:n.1956C>A
ENST00000684780.1:n.3999C>A
ENST00000685866.1:c.*1536C>A	ENSP00000509484.1:n.*1536C>A
ENST00000686376.1:c.3789C>A	ENSP00000510021.1:n.3789C>A
ENST00000686842.1:n.7263C>A
ENST00000687279.1:c.3706C>A	ENSP00000508692.1:p.Leu1236Ile
ENST00000687311.1:n.3672C>A
ENST00000687633.1:c.3610C>A	ENSP00000510289.1:p.Leu1204Ile
ENST00000688923.1:n.3081C>A
ENST00000689688.1:c.3709C>A	ENSP00000510155.1:p.Leu1237Ile
ENST00000690646.1:c.3613C>A	ENSP00000510383.1:p.Leu1205Ile
ENST00000690814.1:c.*885C>A	ENSP00000508792.1:n.*885C>A
ENST00000691504.1:n.3603C>A
ENST00000692155.1:c.3789C>A	ENSP00000510290.1:n.3789C>A
ENST00000692746.1:n.3616C>A
ENST00000693386.1:c.3613C>A	ENSP00000510003.1:p.Leu1205Ile
ENST00000693433.1:n.3603C>A
ENST00000693714.1:n.3656C>A
ENST00000693728.1:c.3613C>A	ENSP00000510580.1:p.Leu1205Ile
ENST00000349780.9:c.3709C>A MANE Select	ENSP00000343818.4:p.Leu1237Ile
ENST00000349780.8:c.3709C>A	ENSP00000343818.4:p.Leu1237Ile
ENST00000360190.8:c.3709C>A	ENSP00000353317.4:p.Leu1237Ile
ENST00000360822.7:c.3019C>A	ENSP00000354065.4:p.Leu1007Ile
ENST00000416449.5:c.1891C>A	ENSP00000400395.1:p.Leu631Ile
ENST00000425647.1:c.739C>A	ENSP00000409941.1:p.Leu247Ile
ENST00000473282.6:c.*2533C>A	ENSP00000419265.1:n.*2533C>A
ENST00000480112.5:c.*1536C>A	ENSP00000418418.1:n.*1536C>A
ENST00000483412.5:n.3017C>A
NM_001011649.2:c.3709C>A	NP_001011649.1:p.Leu1237Ile
NM_001272039.1:c.3019C>A	NP_001258968.1:p.Leu1007Ile
NM_018249.5:c.3709C>A	NP_060719.4:p.Leu1237Ile
NR_073554.1:n.3978C>A
NR_073555.1:n.3901C>A
NR_073556.1:n.4108C>A
NR_073557.1:n.3981C>A
NR_073558.1:n.3978C>A
XM_006717182.1:c.3613C>A	XP_006717245.1:p.Leu1205Ile
XM_006717185.1:c.3022C>A	XP_006717248.1:p.Leu1008Ile
XM_011518860.1:c.3706C>A	XP_011517162.1:p.Leu1236Ile
XM_011518861.1:c.3706C>A	XP_011517163.1:p.Leu1236Ile
XM_017014921.1:c.3610C>A	XP_016870410.1:p.Leu1204Ile
XM_017014922.1:c.2875C>A	XP_016870411.1:p.Leu959Ile
XM_017014923.1:c.3022C>A	XP_016870412.1:p.Leu1008Ile
XM_017014924.1:c.1504C>A	XP_016870413.1:p.Leu502Ile
NM_018249.6:c.3709C>A MANE Select	NP_060719.4:p.Leu1237Ile
NM_001011649.3:c.3709C>A	NP_001011649.1:p.Leu1237Ile
NR_073554.2:n.3975C>A
NR_073555.2:n.3898C>A
NR_073556.2:n.4105C>A
NR_073557.2:n.3978C>A
NR_073558.2:n.3975C>A
NM_001272039.2:c.3019C>A	NP_001258968.1:p.Leu1007Ile