Canonical Allele Identifier: CA271243

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 158170
• ClinVar RCV Id: RCV000145506 ; RCV003105798
• dbSNP Id: rs568558844
• ExAC: 9:123292332 G / A
• gnomAD v2: 9-123292332-G-A
• gnomAD v3: 9-120530054-G-A
• gnomAD v4: 9-120530054-G-A
• MyVariant Identifiers: chr9:g.123292332G>A (hg19) ; chr9:g.120530054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120530054G>A , CM000671.2:g.120530054G>A	GRCh38
NC_000009.11:g.123292332G>A , CM000671.1:g.123292332G>A	GRCh37
NC_000009.10:g.122332153G>A	NCBI36
NG_008999.1:g.55106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.749C>T	ENSP00000354065.4:p.Pro250Leu
ENST00000416449.6:c.749C>T	ENSP00000400395.2:p.Pro250Leu
ENST00000472883.2:n.832C>T
ENST00000481266.2:c.663-1257C>T	ENSP00000417925.2:n.663-1257C>T
ENST00000684780.1:n.808C>T
ENST00000685866.1:c.749C>T	ENSP00000509484.1:p.Pro250Leu
ENST00000686376.1:c.749C>T	ENSP00000510021.1:p.Pro250Leu
ENST00000686842.1:n.808C>T
ENST00000687024.1:c.89C>T	ENSP00000510504.1:p.Pro30Leu
ENST00000687279.1:c.749C>T	ENSP00000508692.1:p.Pro250Leu
ENST00000687311.1:n.808C>T
ENST00000687633.1:c.749C>T	ENSP00000510289.1:p.Pro250Leu
ENST00000688923.1:n.808C>T
ENST00000689688.1:c.749C>T	ENSP00000510155.1:p.Pro250Leu
ENST00000690474.1:n.794C>T
ENST00000690646.1:c.749C>T	ENSP00000510383.1:p.Pro250Leu
ENST00000690814.1:c.746C>T	ENSP00000508792.1:p.Pro249Leu
ENST00000691504.1:n.739C>T
ENST00000692155.1:c.749C>T	ENSP00000510290.1:p.Pro250Leu
ENST00000692746.1:n.808C>T
ENST00000693137.1:n.796C>T
ENST00000693386.1:c.749C>T	ENSP00000510003.1:p.Pro250Leu
ENST00000693433.1:n.739C>T
ENST00000693702.1:n.808C>T
ENST00000693714.1:n.792C>T
ENST00000693728.1:c.749C>T	ENSP00000510580.1:p.Pro250Leu
ENST00000349780.9:c.749C>T MANE Select	ENSP00000343818.4:p.Pro250Leu
ENST00000349780.8:c.749C>T	ENSP00000343818.4:p.Pro250Leu
ENST00000360190.8:c.749C>T	ENSP00000353317.4:p.Pro250Leu
ENST00000360822.7:c.749C>T	ENSP00000354065.4:p.Pro250Leu
ENST00000472883.1:n.236-1257C>T
ENST00000473282.6:c.746C>T	ENSP00000419265.1:p.Pro249Leu
ENST00000480112.5:c.746C>T	ENSP00000418418.1:p.Pro249Leu
ENST00000481266.1:c.749C>T	ENSP00000417925.1:p.Pro250Leu
ENST00000482047.1:c.11C>T	ENSP00000419640.1:p.Pro4Leu
ENST00000483412.5:n.153C>T
NM_001011649.2:c.749C>T	NP_001011649.1:p.Pro250Leu
NM_001272039.1:c.749C>T	NP_001258968.1:p.Pro250Leu
NM_018249.5:c.749C>T	NP_060719.4:p.Pro250Leu
NR_073554.1:n.941C>T
NR_073555.1:n.941C>T
NR_073556.1:n.938C>T
NR_073557.1:n.941C>T
NR_073558.1:n.938C>T
XM_006717182.1:c.749C>T	XP_006717245.1:p.Pro250Leu
XM_006717185.1:c.749C>T	XP_006717248.1:p.Pro250Leu
XM_011518860.1:c.749C>T	XP_011517162.1:p.Pro250Leu
XM_011518861.1:c.746C>T	XP_011517163.1:p.Pro249Leu
XM_017014921.1:c.749C>T	XP_016870410.1:p.Pro250Leu
XM_017014922.1:c.-9-1257C>T	XP_016870411.1:n.-9-1257C>T
XM_017014923.1:c.749C>T	XP_016870412.1:p.Pro250Leu
XR_001746351.1:n.930C>T
NM_018249.6:c.749C>T MANE Select	NP_060719.4:p.Pro250Leu
NM_001011649.3:c.749C>T	NP_001011649.1:p.Pro250Leu
NR_073554.2:n.938C>T
NR_073555.2:n.938C>T
NR_073556.2:n.935C>T
NR_073557.2:n.938C>T
NR_073558.2:n.935C>T
NM_001272039.2:c.749C>T	NP_001258968.1:p.Pro250Leu