Canonical Allele Identifier: CA374721017

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201731A>T (hg19) ; chr9:g.120439453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439453A>T , CM000671.2:g.120439453A>T	GRCh38
NC_000009.11:g.123201731A>T , CM000671.1:g.123201731A>T	GRCh37
NC_000009.10:g.122241552A>T	NCBI36
NG_008999.1:g.145707T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2978T>A	ENSP00000354065.4:p.Leu993His
ENST00000416449.6:c.3572T>A	ENSP00000400395.2:p.Leu1191His
ENST00000479584.2:n.1915T>A
ENST00000684780.1:n.3958T>A
ENST00000685866.1:c.*1495T>A	ENSP00000509484.1:n.*1495T>A
ENST00000686376.1:c.3748T>A	ENSP00000510021.1:n.3748T>A
ENST00000686842.1:n.7222T>A
ENST00000687279.1:c.3665T>A	ENSP00000508692.1:p.Leu1222His
ENST00000687311.1:n.3631T>A
ENST00000687633.1:c.3569T>A	ENSP00000510289.1:p.Leu1190His
ENST00000688923.1:n.3040T>A
ENST00000689688.1:c.3668T>A	ENSP00000510155.1:p.Leu1223His
ENST00000690646.1:c.3572T>A	ENSP00000510383.1:p.Leu1191His
ENST00000690814.1:c.*844T>A	ENSP00000508792.1:n.*844T>A
ENST00000691504.1:n.3562T>A
ENST00000692155.1:c.3748T>A	ENSP00000510290.1:n.3748T>A
ENST00000692746.1:n.3575T>A
ENST00000693386.1:c.3572T>A	ENSP00000510003.1:p.Leu1191His
ENST00000693433.1:n.3562T>A
ENST00000693714.1:n.3615T>A
ENST00000693728.1:c.3572T>A	ENSP00000510580.1:p.Leu1191His
ENST00000349780.9:c.3668T>A MANE Select	ENSP00000343818.4:p.Leu1223His
ENST00000349780.8:c.3668T>A	ENSP00000343818.4:p.Leu1223His
ENST00000360190.8:c.3668T>A	ENSP00000353317.4:p.Leu1223His
ENST00000360822.7:c.2978T>A	ENSP00000354065.4:p.Leu993His
ENST00000416449.5:c.1850T>A	ENSP00000400395.1:p.Leu617His
ENST00000425647.1:c.698T>A	ENSP00000409941.1:p.Leu233His
ENST00000473282.6:c.*2492T>A	ENSP00000419265.1:n.*2492T>A
ENST00000480112.5:c.*1495T>A	ENSP00000418418.1:n.*1495T>A
ENST00000483412.5:n.2976T>A
NM_001011649.2:c.3668T>A	NP_001011649.1:p.Leu1223His
NM_001272039.1:c.2978T>A	NP_001258968.1:p.Leu993His
NM_018249.5:c.3668T>A	NP_060719.4:p.Leu1223His
NR_073554.1:n.3937T>A
NR_073555.1:n.3860T>A
NR_073556.1:n.4067T>A
NR_073557.1:n.3940T>A
NR_073558.1:n.3937T>A
XM_006717182.1:c.3572T>A	XP_006717245.1:p.Leu1191His
XM_006717185.1:c.2981T>A	XP_006717248.1:p.Leu994His
XM_011518860.1:c.3665T>A	XP_011517162.1:p.Leu1222His
XM_011518861.1:c.3665T>A	XP_011517163.1:p.Leu1222His
XM_017014921.1:c.3569T>A	XP_016870410.1:p.Leu1190His
XM_017014922.1:c.2834T>A	XP_016870411.1:p.Leu945His
XM_017014923.1:c.2981T>A	XP_016870412.1:p.Leu994His
XM_017014924.1:c.1463T>A	XP_016870413.1:p.Leu488His
NM_018249.6:c.3668T>A MANE Select	NP_060719.4:p.Leu1223His
NM_001011649.3:c.3668T>A	NP_001011649.1:p.Leu1223His
NR_073554.2:n.3934T>A
NR_073555.2:n.3857T>A
NR_073556.2:n.4064T>A
NR_073557.2:n.3937T>A
NR_073558.2:n.3934T>A
NM_001272039.2:c.2978T>A	NP_001258968.1:p.Leu993His