Canonical Allele Identifier: CA374720971

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201711G>T (hg19) ; chr9:g.120439433G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439433G>T , CM000671.2:g.120439433G>T	GRCh38
NC_000009.11:g.123201711G>T , CM000671.1:g.123201711G>T	GRCh37
NC_000009.10:g.122241532G>T	NCBI36
NG_008999.1:g.145727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2998C>A	ENSP00000354065.4:p.Leu1000Met
ENST00000416449.6:c.3592C>A	ENSP00000400395.2:p.Leu1198Met
ENST00000479584.2:n.1935C>A
ENST00000684780.1:n.3978C>A
ENST00000685866.1:c.*1515C>A	ENSP00000509484.1:n.*1515C>A
ENST00000686376.1:c.3768C>A	ENSP00000510021.1:n.3768C>A
ENST00000686842.1:n.7242C>A
ENST00000687279.1:c.3685C>A	ENSP00000508692.1:p.Leu1229Met
ENST00000687311.1:n.3651C>A
ENST00000687633.1:c.3589C>A	ENSP00000510289.1:p.Leu1197Met
ENST00000688923.1:n.3060C>A
ENST00000689688.1:c.3688C>A	ENSP00000510155.1:p.Leu1230Met
ENST00000690646.1:c.3592C>A	ENSP00000510383.1:p.Leu1198Met
ENST00000690814.1:c.*864C>A	ENSP00000508792.1:n.*864C>A
ENST00000691504.1:n.3582C>A
ENST00000692155.1:c.3768C>A	ENSP00000510290.1:n.3768C>A
ENST00000692746.1:n.3595C>A
ENST00000693386.1:c.3592C>A	ENSP00000510003.1:p.Leu1198Met
ENST00000693433.1:n.3582C>A
ENST00000693714.1:n.3635C>A
ENST00000693728.1:c.3592C>A	ENSP00000510580.1:p.Leu1198Met
ENST00000349780.9:c.3688C>A MANE Select	ENSP00000343818.4:p.Leu1230Met
ENST00000349780.8:c.3688C>A	ENSP00000343818.4:p.Leu1230Met
ENST00000360190.8:c.3688C>A	ENSP00000353317.4:p.Leu1230Met
ENST00000360822.7:c.2998C>A	ENSP00000354065.4:p.Leu1000Met
ENST00000416449.5:c.1870C>A	ENSP00000400395.1:p.Leu624Met
ENST00000425647.1:c.718C>A	ENSP00000409941.1:p.Leu240Met
ENST00000473282.6:c.*2512C>A	ENSP00000419265.1:n.*2512C>A
ENST00000480112.5:c.*1515C>A	ENSP00000418418.1:n.*1515C>A
ENST00000483412.5:n.2996C>A
NM_001011649.2:c.3688C>A	NP_001011649.1:p.Leu1230Met
NM_001272039.1:c.2998C>A	NP_001258968.1:p.Leu1000Met
NM_018249.5:c.3688C>A	NP_060719.4:p.Leu1230Met
NR_073554.1:n.3957C>A
NR_073555.1:n.3880C>A
NR_073556.1:n.4087C>A
NR_073557.1:n.3960C>A
NR_073558.1:n.3957C>A
XM_006717182.1:c.3592C>A	XP_006717245.1:p.Leu1198Met
XM_006717185.1:c.3001C>A	XP_006717248.1:p.Leu1001Met
XM_011518860.1:c.3685C>A	XP_011517162.1:p.Leu1229Met
XM_011518861.1:c.3685C>A	XP_011517163.1:p.Leu1229Met
XM_017014921.1:c.3589C>A	XP_016870410.1:p.Leu1197Met
XM_017014922.1:c.2854C>A	XP_016870411.1:p.Leu952Met
XM_017014923.1:c.3001C>A	XP_016870412.1:p.Leu1001Met
XM_017014924.1:c.1483C>A	XP_016870413.1:p.Leu495Met
NM_018249.6:c.3688C>A MANE Select	NP_060719.4:p.Leu1230Met
NM_001011649.3:c.3688C>A	NP_001011649.1:p.Leu1230Met
NR_073554.2:n.3954C>A
NR_073555.2:n.3877C>A
NR_073556.2:n.4084C>A
NR_073557.2:n.3957C>A
NR_073558.2:n.3954C>A
NM_001272039.2:c.2998C>A	NP_001258968.1:p.Leu1000Met