Canonical Allele Identifier: CA271235

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 158160
• ClinVar RCV Id: RCV000145496 ; RCV002512570
• dbSNP Id: rs587783395
• gnomAD v4: 9-120400834-T-G
• MyVariant Identifiers: chr9:g.123163112T>G (hg19) ; chr9:g.120400834T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120400834T>G , CM000671.2:g.120400834T>G	GRCh38
NC_000009.11:g.123163112T>G , CM000671.1:g.123163112T>G	GRCh37
NC_000009.10:g.122202933T>G	NCBI36
NG_008999.1:g.184326A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.4669A>C	ENSP00000354065.4:p.Lys1557Gln
ENST00000416449.6:c.5263A>C	ENSP00000400395.2:p.Lys1755Gln
ENST00000479584.2:n.3606A>C
ENST00000684780.1:n.5649A>C
ENST00000685866.1:c.*3184A>C	ENSP00000509484.1:n.*3184A>C
ENST00000686376.1:c.5202A>C	ENSP00000510021.1:n.5202A>C
ENST00000686842.1:n.8913A>C
ENST00000687279.1:c.5356A>C	ENSP00000508692.1:p.Lys1786Gln
ENST00000687311.1:n.5322A>C
ENST00000687633.1:c.5260A>C	ENSP00000510289.1:p.Lys1754Gln
ENST00000688512.1:c.967A>C	ENSP00000508546.1:p.Lys323Gln
ENST00000688923.1:n.4494A>C
ENST00000689012.1:n.1747A>C
ENST00000689688.1:c.*422A>C	ENSP00000510155.1:n.*422A>C
ENST00000690646.1:c.5185A>C	ENSP00000510383.1:p.Lys1729Gln
ENST00000690814.1:c.*2535A>C	ENSP00000508792.1:n.*2535A>C
ENST00000691504.1:n.6215A>C
ENST00000691551.1:c.1528A>C
ENST00000692155.1:c.5202A>C	ENSP00000510290.1:n.5202A>C
ENST00000692746.1:n.5029A>C
ENST00000693386.1:c.5204A>C	ENSP00000510003.1:n.5204A>C
ENST00000693433.1:n.9115A>C
ENST00000693714.1:n.5306A>C
ENST00000693728.1:c.5263A>C	ENSP00000510580.1:p.Lys1755Gln
ENST00000349780.9:c.5359A>C MANE Select	ENSP00000343818.4:p.Lys1787Gln
ENST00000349780.8:c.5359A>C	ENSP00000343818.4:p.Lys1787Gln
ENST00000360190.8:c.5122A>C	ENSP00000353317.4:p.Lys1708Gln
ENST00000360822.7:c.4669A>C	ENSP00000354065.4:p.Lys1557Gln
ENST00000416449.5:c.3541A>C	ENSP00000400395.1:p.Lys1181Gln
ENST00000425647.1:c.2389A>C	ENSP00000409941.1:p.Lys797Gln
ENST00000433194.6:n.455A>C
ENST00000473282.6:c.*4183A>C	ENSP00000419265.1:n.*4183A>C
ENST00000474262.5:n.186A>C
ENST00000480112.5:c.*3186A>C	ENSP00000418418.1:n.*3186A>C
ENST00000480467.5:n.571A>C
ENST00000484546.1:n.909A>C
NM_001011649.2:c.5122A>C	NP_001011649.1:p.Lys1708Gln
NM_001272039.1:c.4669A>C	NP_001258968.1:p.Lys1557Gln
NM_018249.5:c.5359A>C	NP_060719.4:p.Lys1787Gln
NR_073554.1:n.5626A>C
NR_073555.1:n.5549A>C
NR_073556.1:n.5758A>C
NR_073557.1:n.5631A>C
NR_073558.1:n.5628A>C
XM_006717182.1:c.5263A>C	XP_006717245.1:p.Lys1755Gln
XM_006717185.1:c.4672A>C	XP_006717248.1:p.Lys1558Gln
XM_011518860.1:c.5356A>C	XP_011517162.1:p.Lys1786Gln
XM_011518861.1:c.5356A>C	XP_011517163.1:p.Lys1786Gln
XM_017014921.1:c.5260A>C	XP_016870410.1:p.Lys1754Gln
XM_017014922.1:c.4525A>C	XP_016870411.1:p.Lys1509Gln
XM_017014923.1:c.4435A>C	XP_016870412.1:p.Lys1479Gln
XM_017014924.1:c.2917A>C	XP_016870413.1:p.Lys973Gln
NM_018249.6:c.5359A>C MANE Select	NP_060719.4:p.Lys1787Gln
NM_001011649.3:c.5122A>C	NP_001011649.1:p.Lys1708Gln
NR_073554.2:n.5623A>C
NR_073555.2:n.5546A>C
NR_073556.2:n.5755A>C
NR_073557.2:n.5628A>C
NR_073558.2:n.5625A>C
NM_001272039.2:c.4669A>C	NP_001258968.1:p.Lys1557Gln