Canonical Allele Identifier: CA374721127

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201776T>A (hg19) ; chr9:g.120439498T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439498T>A , CM000671.2:g.120439498T>A	GRCh38
NC_000009.11:g.123201776T>A , CM000671.1:g.123201776T>A	GRCh37
NC_000009.10:g.122241597T>A	NCBI36
NG_008999.1:g.145662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2933A>T	ENSP00000354065.4:p.Glu978Val
ENST00000416449.6:c.3527A>T	ENSP00000400395.2:p.Glu1176Val
ENST00000479584.2:n.1870A>T
ENST00000684780.1:n.3913A>T
ENST00000685866.1:c.*1450A>T	ENSP00000509484.1:n.*1450A>T
ENST00000686376.1:c.3703A>T	ENSP00000510021.1:n.3703A>T
ENST00000686842.1:n.7177A>T
ENST00000687279.1:c.3620A>T	ENSP00000508692.1:p.Glu1207Val
ENST00000687311.1:n.3586A>T
ENST00000687633.1:c.3524A>T	ENSP00000510289.1:p.Glu1175Val
ENST00000688923.1:n.2995A>T
ENST00000689688.1:c.3623A>T	ENSP00000510155.1:p.Glu1208Val
ENST00000690646.1:c.3527A>T	ENSP00000510383.1:p.Glu1176Val
ENST00000690814.1:c.*799A>T	ENSP00000508792.1:n.*799A>T
ENST00000691504.1:n.3517A>T
ENST00000692155.1:c.3703A>T	ENSP00000510290.1:n.3703A>T
ENST00000692746.1:n.3530A>T
ENST00000693386.1:c.3527A>T	ENSP00000510003.1:p.Glu1176Val
ENST00000693433.1:n.3517A>T
ENST00000693714.1:n.3570A>T
ENST00000693728.1:c.3527A>T	ENSP00000510580.1:p.Glu1176Val
ENST00000349780.9:c.3623A>T MANE Select	ENSP00000343818.4:p.Glu1208Val
ENST00000349780.8:c.3623A>T	ENSP00000343818.4:p.Glu1208Val
ENST00000360190.8:c.3623A>T	ENSP00000353317.4:p.Glu1208Val
ENST00000360822.7:c.2933A>T	ENSP00000354065.4:p.Glu978Val
ENST00000416449.5:c.1805A>T	ENSP00000400395.1:p.Glu602Val
ENST00000425647.1:c.653A>T	ENSP00000409941.1:p.Glu218Val
ENST00000473282.6:c.*2447A>T	ENSP00000419265.1:n.*2447A>T
ENST00000480112.5:c.*1450A>T	ENSP00000418418.1:n.*1450A>T
ENST00000483412.5:n.2931A>T
NM_001011649.2:c.3623A>T	NP_001011649.1:p.Glu1208Val
NM_001272039.1:c.2933A>T	NP_001258968.1:p.Glu978Val
NM_018249.5:c.3623A>T	NP_060719.4:p.Glu1208Val
NR_073554.1:n.3892A>T
NR_073555.1:n.3815A>T
NR_073556.1:n.4022A>T
NR_073557.1:n.3895A>T
NR_073558.1:n.3892A>T
XM_006717182.1:c.3527A>T	XP_006717245.1:p.Glu1176Val
XM_006717185.1:c.2936A>T	XP_006717248.1:p.Glu979Val
XM_011518860.1:c.3620A>T	XP_011517162.1:p.Glu1207Val
XM_011518861.1:c.3620A>T	XP_011517163.1:p.Glu1207Val
XM_017014921.1:c.3524A>T	XP_016870410.1:p.Glu1175Val
XM_017014922.1:c.2789A>T	XP_016870411.1:p.Glu930Val
XM_017014923.1:c.2936A>T	XP_016870412.1:p.Glu979Val
XM_017014924.1:c.1418A>T	XP_016870413.1:p.Glu473Val
NM_018249.6:c.3623A>T MANE Select	NP_060719.4:p.Glu1208Val
NM_001011649.3:c.3623A>T	NP_001011649.1:p.Glu1208Val
NR_073554.2:n.3889A>T
NR_073555.2:n.3812A>T
NR_073556.2:n.4019A>T
NR_073557.2:n.3892A>T
NR_073558.2:n.3889A>T
NM_001272039.2:c.2933A>T	NP_001258968.1:p.Glu978Val