Canonical Allele Identifier: CA374721000

Gene: CDK5RAP2

Linked Data

• gnomAD v4: 9-120439446-A-C
• MyVariant Identifiers: chr9:g.123201724A>C (hg19) ; chr9:g.120439446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439446A>C , CM000671.2:g.120439446A>C	GRCh38
NC_000009.11:g.123201724A>C , CM000671.1:g.123201724A>C	GRCh37
NC_000009.10:g.122241545A>C	NCBI36
NG_008999.1:g.145714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2985T>G	ENSP00000354065.4:p.Ser995Arg
ENST00000416449.6:c.3579T>G	ENSP00000400395.2:p.Ser1193Arg
ENST00000479584.2:n.1922T>G
ENST00000684780.1:n.3965T>G
ENST00000685866.1:c.*1502T>G	ENSP00000509484.1:n.*1502T>G
ENST00000686376.1:c.3755T>G	ENSP00000510021.1:n.3755T>G
ENST00000686842.1:n.7229T>G
ENST00000687279.1:c.3672T>G	ENSP00000508692.1:p.Ser1224Arg
ENST00000687311.1:n.3638T>G
ENST00000687633.1:c.3576T>G	ENSP00000510289.1:p.Ser1192Arg
ENST00000688923.1:n.3047T>G
ENST00000689688.1:c.3675T>G	ENSP00000510155.1:p.Ser1225Arg
ENST00000690646.1:c.3579T>G	ENSP00000510383.1:p.Ser1193Arg
ENST00000690814.1:c.*851T>G	ENSP00000508792.1:n.*851T>G
ENST00000691504.1:n.3569T>G
ENST00000692155.1:c.3755T>G	ENSP00000510290.1:n.3755T>G
ENST00000692746.1:n.3582T>G
ENST00000693386.1:c.3579T>G	ENSP00000510003.1:p.Ser1193Arg
ENST00000693433.1:n.3569T>G
ENST00000693714.1:n.3622T>G
ENST00000693728.1:c.3579T>G	ENSP00000510580.1:p.Ser1193Arg
ENST00000349780.9:c.3675T>G MANE Select	ENSP00000343818.4:p.Ser1225Arg
ENST00000349780.8:c.3675T>G	ENSP00000343818.4:p.Ser1225Arg
ENST00000360190.8:c.3675T>G	ENSP00000353317.4:p.Ser1225Arg
ENST00000360822.7:c.2985T>G	ENSP00000354065.4:p.Ser995Arg
ENST00000416449.5:c.1857T>G	ENSP00000400395.1:p.Ser619Arg
ENST00000425647.1:c.705T>G	ENSP00000409941.1:p.Ser235Arg
ENST00000473282.6:c.*2499T>G	ENSP00000419265.1:n.*2499T>G
ENST00000480112.5:c.*1502T>G	ENSP00000418418.1:n.*1502T>G
ENST00000483412.5:n.2983T>G
NM_001011649.2:c.3675T>G	NP_001011649.1:p.Ser1225Arg
NM_001272039.1:c.2985T>G	NP_001258968.1:p.Ser995Arg
NM_018249.5:c.3675T>G	NP_060719.4:p.Ser1225Arg
NR_073554.1:n.3944T>G
NR_073555.1:n.3867T>G
NR_073556.1:n.4074T>G
NR_073557.1:n.3947T>G
NR_073558.1:n.3944T>G
XM_006717182.1:c.3579T>G	XP_006717245.1:p.Ser1193Arg
XM_006717185.1:c.2988T>G	XP_006717248.1:p.Ser996Arg
XM_011518860.1:c.3672T>G	XP_011517162.1:p.Ser1224Arg
XM_011518861.1:c.3672T>G	XP_011517163.1:p.Ser1224Arg
XM_017014921.1:c.3576T>G	XP_016870410.1:p.Ser1192Arg
XM_017014922.1:c.2841T>G	XP_016870411.1:p.Ser947Arg
XM_017014923.1:c.2988T>G	XP_016870412.1:p.Ser996Arg
XM_017014924.1:c.1470T>G	XP_016870413.1:p.Ser490Arg
NM_018249.6:c.3675T>G MANE Select	NP_060719.4:p.Ser1225Arg
NM_001011649.3:c.3675T>G	NP_001011649.1:p.Ser1225Arg
NR_073554.2:n.3941T>G
NR_073555.2:n.3864T>G
NR_073556.2:n.4071T>G
NR_073557.2:n.3944T>G
NR_073558.2:n.3941T>G
NM_001272039.2:c.2985T>G	NP_001258968.1:p.Ser995Arg