Canonical Allele Identifier: CA374721143

Gene: CDK5RAP2

Linked Data

• gnomAD v4: 9-120439505-G-C
• MyVariant Identifiers: chr9:g.123201783G>C (hg19) ; chr9:g.120439505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439505G>C , CM000671.2:g.120439505G>C	GRCh38
NC_000009.11:g.123201783G>C , CM000671.1:g.123201783G>C	GRCh37
NC_000009.10:g.122241604G>C	NCBI36
NG_008999.1:g.145655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2926C>G	ENSP00000354065.4:p.Leu976Val
ENST00000416449.6:c.3520C>G	ENSP00000400395.2:p.Leu1174Val
ENST00000479584.2:n.1863C>G
ENST00000684780.1:n.3906C>G
ENST00000685866.1:c.*1443C>G	ENSP00000509484.1:n.*1443C>G
ENST00000686376.1:c.3696C>G	ENSP00000510021.1:n.3696C>G
ENST00000686842.1:n.7170C>G
ENST00000687279.1:c.3613C>G	ENSP00000508692.1:p.Leu1205Val
ENST00000687311.1:n.3579C>G
ENST00000687633.1:c.3517C>G	ENSP00000510289.1:p.Leu1173Val
ENST00000688923.1:n.2988C>G
ENST00000689688.1:c.3616C>G	ENSP00000510155.1:p.Leu1206Val
ENST00000690646.1:c.3520C>G	ENSP00000510383.1:p.Leu1174Val
ENST00000690814.1:c.*792C>G	ENSP00000508792.1:n.*792C>G
ENST00000691504.1:n.3510C>G
ENST00000692155.1:c.3696C>G	ENSP00000510290.1:n.3696C>G
ENST00000692746.1:n.3523C>G
ENST00000693386.1:c.3520C>G	ENSP00000510003.1:p.Leu1174Val
ENST00000693433.1:n.3510C>G
ENST00000693714.1:n.3563C>G
ENST00000693728.1:c.3520C>G	ENSP00000510580.1:p.Leu1174Val
ENST00000349780.9:c.3616C>G MANE Select	ENSP00000343818.4:p.Leu1206Val
ENST00000349780.8:c.3616C>G	ENSP00000343818.4:p.Leu1206Val
ENST00000360190.8:c.3616C>G	ENSP00000353317.4:p.Leu1206Val
ENST00000360822.7:c.2926C>G	ENSP00000354065.4:p.Leu976Val
ENST00000416449.5:c.1798C>G	ENSP00000400395.1:p.Leu600Val
ENST00000425647.1:c.646C>G	ENSP00000409941.1:p.Leu216Val
ENST00000473282.6:c.*2440C>G	ENSP00000419265.1:n.*2440C>G
ENST00000480112.5:c.*1443C>G	ENSP00000418418.1:n.*1443C>G
ENST00000483412.5:n.2924C>G
NM_001011649.2:c.3616C>G	NP_001011649.1:p.Leu1206Val
NM_001272039.1:c.2926C>G	NP_001258968.1:p.Leu976Val
NM_018249.5:c.3616C>G	NP_060719.4:p.Leu1206Val
NR_073554.1:n.3885C>G
NR_073555.1:n.3808C>G
NR_073556.1:n.4015C>G
NR_073557.1:n.3888C>G
NR_073558.1:n.3885C>G
XM_006717182.1:c.3520C>G	XP_006717245.1:p.Leu1174Val
XM_006717185.1:c.2929C>G	XP_006717248.1:p.Leu977Val
XM_011518860.1:c.3613C>G	XP_011517162.1:p.Leu1205Val
XM_011518861.1:c.3613C>G	XP_011517163.1:p.Leu1205Val
XM_017014921.1:c.3517C>G	XP_016870410.1:p.Leu1173Val
XM_017014922.1:c.2782C>G	XP_016870411.1:p.Leu928Val
XM_017014923.1:c.2929C>G	XP_016870412.1:p.Leu977Val
XM_017014924.1:c.1411C>G	XP_016870413.1:p.Leu471Val
NM_018249.6:c.3616C>G MANE Select	NP_060719.4:p.Leu1206Val
NM_001011649.3:c.3616C>G	NP_001011649.1:p.Leu1206Val
NR_073554.2:n.3882C>G
NR_073555.2:n.3805C>G
NR_073556.2:n.4012C>G
NR_073557.2:n.3885C>G
NR_073558.2:n.3882C>G
NM_001272039.2:c.2926C>G	NP_001258968.1:p.Leu976Val