Canonical Allele Identifier: CA374713607

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123170686C>G (hg19) ; chr9:g.120408408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120408408C>G , CM000671.2:g.120408408C>G	GRCh38
NC_000009.11:g.123170686C>G , CM000671.1:g.123170686C>G	GRCh37
NC_000009.10:g.122210507C>G	NCBI36
NG_008999.1:g.176752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.3975G>C	ENSP00000354065.4:p.Gln1325His
ENST00000416449.6:c.4569G>C	ENSP00000400395.2:p.Gln1523His
ENST00000479584.2:n.2912G>C
ENST00000684780.1:n.4955G>C
ENST00000685866.1:c.*2492G>C	ENSP00000509484.1:n.*2492G>C
ENST00000686376.1:c.4745G>C	ENSP00000510021.1:n.4745G>C
ENST00000686842.1:n.8219G>C
ENST00000687279.1:c.4662G>C	ENSP00000508692.1:p.Gln1554His
ENST00000687311.1:n.4628G>C
ENST00000687633.1:c.4566G>C	ENSP00000510289.1:p.Gln1522His
ENST00000688512.1:c.273G>C	ENSP00000508546.1:p.Gln91His
ENST00000688923.1:n.4037G>C
ENST00000689012.1:n.1055G>C
ENST00000689688.1:c.4665G>C	ENSP00000510155.1:p.Gln1555His
ENST00000690646.1:c.4569G>C	ENSP00000510383.1:p.Gln1523His
ENST00000690814.1:c.*1841G>C	ENSP00000508792.1:n.*1841G>C
ENST00000691504.1:n.4559G>C
ENST00000691551.1:c.834G>C
ENST00000692155.1:c.4745G>C	ENSP00000510290.1:n.4745G>C
ENST00000692746.1:n.4572G>C
ENST00000693386.1:c.4510G>C	ENSP00000510003.1:n.4510G>C
ENST00000693433.1:n.4559G>C
ENST00000693714.1:n.4612G>C
ENST00000693728.1:c.4569G>C	ENSP00000510580.1:p.Gln1523His
ENST00000349780.9:c.4665G>C MANE Select	ENSP00000343818.4:p.Gln1555His
ENST00000349780.8:c.4665G>C	ENSP00000343818.4:p.Gln1555His
ENST00000360190.8:c.4665G>C	ENSP00000353317.4:p.Gln1555His
ENST00000360822.7:c.3975G>C	ENSP00000354065.4:p.Gln1325His
ENST00000416449.5:c.2847G>C	ENSP00000400395.1:p.Gln949His
ENST00000425647.1:c.1695G>C	ENSP00000409941.1:p.Gln565His
ENST00000473282.6:c.*3489G>C	ENSP00000419265.1:n.*3489G>C
ENST00000480112.5:c.*2492G>C	ENSP00000418418.1:n.*2492G>C
ENST00000483412.5:n.3973G>C
NM_001011649.2:c.4665G>C	NP_001011649.1:p.Gln1555His
NM_001272039.1:c.3975G>C	NP_001258968.1:p.Gln1325His
NM_018249.5:c.4665G>C	NP_060719.4:p.Gln1555His
NR_073554.1:n.4934G>C
NR_073555.1:n.4857G>C
NR_073556.1:n.5064G>C
NR_073557.1:n.4937G>C
NR_073558.1:n.4934G>C
XM_006717182.1:c.4569G>C	XP_006717245.1:p.Gln1523His
XM_006717185.1:c.3978G>C	XP_006717248.1:p.Gln1326His
XM_011518860.1:c.4662G>C	XP_011517162.1:p.Gln1554His
XM_011518861.1:c.4662G>C	XP_011517163.1:p.Gln1554His
XM_017014921.1:c.4566G>C	XP_016870410.1:p.Gln1522His
XM_017014922.1:c.3831G>C	XP_016870411.1:p.Gln1277His
XM_017014923.1:c.3978G>C	XP_016870412.1:p.Gln1326His
XM_017014924.1:c.2460G>C	XP_016870413.1:p.Gln820His
NM_018249.6:c.4665G>C MANE Select	NP_060719.4:p.Gln1555His
NM_001011649.3:c.4665G>C	NP_001011649.1:p.Gln1555His
NR_073554.2:n.4931G>C
NR_073555.2:n.4854G>C
NR_073556.2:n.5061G>C
NR_073557.2:n.4934G>C
NR_073558.2:n.4931G>C
NM_001272039.2:c.3975G>C	NP_001258968.1:p.Gln1325His