Canonical Allele Identifier: CA374713911

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 2016686
• ClinVar RCV Id: RCV002851701
• MyVariant Identifiers: chr9:g.123170733C>A (hg19) ; chr9:g.120408455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120408455C>A , CM000671.2:g.120408455C>A	GRCh38
NC_000009.11:g.123170733C>A , CM000671.1:g.123170733C>A	GRCh37
NC_000009.10:g.122210554C>A	NCBI36
NG_008999.1:g.176705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.3928G>T	ENSP00000354065.4:p.Val1310Leu
ENST00000416449.6:c.4522G>T	ENSP00000400395.2:p.Val1508Leu
ENST00000479584.2:n.2865G>T
ENST00000684780.1:n.4908G>T
ENST00000685866.1:c.*2445G>T	ENSP00000509484.1:n.*2445G>T
ENST00000686376.1:c.4698G>T	ENSP00000510021.1:n.4698G>T
ENST00000686842.1:n.8172G>T
ENST00000687279.1:c.4615G>T	ENSP00000508692.1:p.Val1539Leu
ENST00000687311.1:n.4581G>T
ENST00000687633.1:c.4519G>T	ENSP00000510289.1:p.Val1507Leu
ENST00000688512.1:c.226G>T	ENSP00000508546.1:p.Val76Leu
ENST00000688923.1:n.3990G>T
ENST00000689012.1:n.1008G>T
ENST00000689688.1:c.4618G>T	ENSP00000510155.1:p.Val1540Leu
ENST00000690646.1:c.4522G>T	ENSP00000510383.1:p.Val1508Leu
ENST00000690814.1:c.*1794G>T	ENSP00000508792.1:n.*1794G>T
ENST00000691504.1:n.4512G>T
ENST00000691551.1:c.787G>T
ENST00000692155.1:c.4698G>T	ENSP00000510290.1:n.4698G>T
ENST00000692746.1:n.4525G>T
ENST00000693386.1:c.4463G>T	ENSP00000510003.1:n.4463G>T
ENST00000693433.1:n.4512G>T
ENST00000693714.1:n.4565G>T
ENST00000693728.1:c.4522G>T	ENSP00000510580.1:p.Val1508Leu
ENST00000349780.9:c.4618G>T MANE Select	ENSP00000343818.4:p.Val1540Leu
ENST00000349780.8:c.4618G>T	ENSP00000343818.4:p.Val1540Leu
ENST00000360190.8:c.4618G>T	ENSP00000353317.4:p.Val1540Leu
ENST00000360822.7:c.3928G>T	ENSP00000354065.4:p.Val1310Leu
ENST00000416449.5:c.2800G>T	ENSP00000400395.1:p.Val934Leu
ENST00000425647.1:c.1648G>T	ENSP00000409941.1:p.Val550Leu
ENST00000473282.6:c.*3442G>T	ENSP00000419265.1:n.*3442G>T
ENST00000480112.5:c.*2445G>T	ENSP00000418418.1:n.*2445G>T
ENST00000483412.5:n.3926G>T
NM_001011649.2:c.4618G>T	NP_001011649.1:p.Val1540Leu
NM_001272039.1:c.3928G>T	NP_001258968.1:p.Val1310Leu
NM_018249.5:c.4618G>T	NP_060719.4:p.Val1540Leu
NR_073554.1:n.4887G>T
NR_073555.1:n.4810G>T
NR_073556.1:n.5017G>T
NR_073557.1:n.4890G>T
NR_073558.1:n.4887G>T
XM_006717182.1:c.4522G>T	XP_006717245.1:p.Val1508Leu
XM_006717185.1:c.3931G>T	XP_006717248.1:p.Val1311Leu
XM_011518860.1:c.4615G>T	XP_011517162.1:p.Val1539Leu
XM_011518861.1:c.4615G>T	XP_011517163.1:p.Val1539Leu
XM_017014921.1:c.4519G>T	XP_016870410.1:p.Val1507Leu
XM_017014922.1:c.3784G>T	XP_016870411.1:p.Val1262Leu
XM_017014923.1:c.3931G>T	XP_016870412.1:p.Val1311Leu
XM_017014924.1:c.2413G>T	XP_016870413.1:p.Val805Leu
NM_018249.6:c.4618G>T MANE Select	NP_060719.4:p.Val1540Leu
NM_001011649.3:c.4618G>T	NP_001011649.1:p.Val1540Leu
NR_073554.2:n.4884G>T
NR_073555.2:n.4807G>T
NR_073556.2:n.5014G>T
NR_073557.2:n.4887G>T
NR_073558.2:n.4884G>T
NM_001272039.2:c.3928G>T	NP_001258968.1:p.Val1310Leu