Canonical Allele Identifier: CA374721020

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201732G>T (hg19) ; chr9:g.120439454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439454G>T , CM000671.2:g.120439454G>T	GRCh38
NC_000009.11:g.123201732G>T , CM000671.1:g.123201732G>T	GRCh37
NC_000009.10:g.122241553G>T	NCBI36
NG_008999.1:g.145706C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2977C>A	ENSP00000354065.4:p.Leu993Ile
ENST00000416449.6:c.3571C>A	ENSP00000400395.2:p.Leu1191Ile
ENST00000479584.2:n.1914C>A
ENST00000684780.1:n.3957C>A
ENST00000685866.1:c.*1494C>A	ENSP00000509484.1:n.*1494C>A
ENST00000686376.1:c.3747C>A	ENSP00000510021.1:n.3747C>A
ENST00000686842.1:n.7221C>A
ENST00000687279.1:c.3664C>A	ENSP00000508692.1:p.Leu1222Ile
ENST00000687311.1:n.3630C>A
ENST00000687633.1:c.3568C>A	ENSP00000510289.1:p.Leu1190Ile
ENST00000688923.1:n.3039C>A
ENST00000689688.1:c.3667C>A	ENSP00000510155.1:p.Leu1223Ile
ENST00000690646.1:c.3571C>A	ENSP00000510383.1:p.Leu1191Ile
ENST00000690814.1:c.*843C>A	ENSP00000508792.1:n.*843C>A
ENST00000691504.1:n.3561C>A
ENST00000692155.1:c.3747C>A	ENSP00000510290.1:n.3747C>A
ENST00000692746.1:n.3574C>A
ENST00000693386.1:c.3571C>A	ENSP00000510003.1:p.Leu1191Ile
ENST00000693433.1:n.3561C>A
ENST00000693714.1:n.3614C>A
ENST00000693728.1:c.3571C>A	ENSP00000510580.1:p.Leu1191Ile
ENST00000349780.9:c.3667C>A MANE Select	ENSP00000343818.4:p.Leu1223Ile
ENST00000349780.8:c.3667C>A	ENSP00000343818.4:p.Leu1223Ile
ENST00000360190.8:c.3667C>A	ENSP00000353317.4:p.Leu1223Ile
ENST00000360822.7:c.2977C>A	ENSP00000354065.4:p.Leu993Ile
ENST00000416449.5:c.1849C>A	ENSP00000400395.1:p.Leu617Ile
ENST00000425647.1:c.697C>A	ENSP00000409941.1:p.Leu233Ile
ENST00000473282.6:c.*2491C>A	ENSP00000419265.1:n.*2491C>A
ENST00000480112.5:c.*1494C>A	ENSP00000418418.1:n.*1494C>A
ENST00000483412.5:n.2975C>A
NM_001011649.2:c.3667C>A	NP_001011649.1:p.Leu1223Ile
NM_001272039.1:c.2977C>A	NP_001258968.1:p.Leu993Ile
NM_018249.5:c.3667C>A	NP_060719.4:p.Leu1223Ile
NR_073554.1:n.3936C>A
NR_073555.1:n.3859C>A
NR_073556.1:n.4066C>A
NR_073557.1:n.3939C>A
NR_073558.1:n.3936C>A
XM_006717182.1:c.3571C>A	XP_006717245.1:p.Leu1191Ile
XM_006717185.1:c.2980C>A	XP_006717248.1:p.Leu994Ile
XM_011518860.1:c.3664C>A	XP_011517162.1:p.Leu1222Ile
XM_011518861.1:c.3664C>A	XP_011517163.1:p.Leu1222Ile
XM_017014921.1:c.3568C>A	XP_016870410.1:p.Leu1190Ile
XM_017014922.1:c.2833C>A	XP_016870411.1:p.Leu945Ile
XM_017014923.1:c.2980C>A	XP_016870412.1:p.Leu994Ile
XM_017014924.1:c.1462C>A	XP_016870413.1:p.Leu488Ile
NM_018249.6:c.3667C>A MANE Select	NP_060719.4:p.Leu1223Ile
NM_001011649.3:c.3667C>A	NP_001011649.1:p.Leu1223Ile
NR_073554.2:n.3933C>A
NR_073555.2:n.3856C>A
NR_073556.2:n.4063C>A
NR_073557.2:n.3936C>A
NR_073558.2:n.3933C>A
NM_001272039.2:c.2977C>A	NP_001258968.1:p.Leu993Ile