Canonical Allele Identifier: CA374721062

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201749T>A (hg19) ; chr9:g.120439471T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439471T>A , CM000671.2:g.120439471T>A	GRCh38
NC_000009.11:g.123201749T>A , CM000671.1:g.123201749T>A	GRCh37
NC_000009.10:g.122241570T>A	NCBI36
NG_008999.1:g.145689A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2960A>T	ENSP00000354065.4:p.Gln987Leu
ENST00000416449.6:c.3554A>T	ENSP00000400395.2:p.Gln1185Leu
ENST00000479584.2:n.1897A>T
ENST00000684780.1:n.3940A>T
ENST00000685866.1:c.*1477A>T	ENSP00000509484.1:n.*1477A>T
ENST00000686376.1:c.3730A>T	ENSP00000510021.1:n.3730A>T
ENST00000686842.1:n.7204A>T
ENST00000687279.1:c.3647A>T	ENSP00000508692.1:p.Gln1216Leu
ENST00000687311.1:n.3613A>T
ENST00000687633.1:c.3551A>T	ENSP00000510289.1:p.Gln1184Leu
ENST00000688923.1:n.3022A>T
ENST00000689688.1:c.3650A>T	ENSP00000510155.1:p.Gln1217Leu
ENST00000690646.1:c.3554A>T	ENSP00000510383.1:p.Gln1185Leu
ENST00000690814.1:c.*826A>T	ENSP00000508792.1:n.*826A>T
ENST00000691504.1:n.3544A>T
ENST00000692155.1:c.3730A>T	ENSP00000510290.1:n.3730A>T
ENST00000692746.1:n.3557A>T
ENST00000693386.1:c.3554A>T	ENSP00000510003.1:p.Gln1185Leu
ENST00000693433.1:n.3544A>T
ENST00000693714.1:n.3597A>T
ENST00000693728.1:c.3554A>T	ENSP00000510580.1:p.Gln1185Leu
ENST00000349780.9:c.3650A>T MANE Select	ENSP00000343818.4:p.Gln1217Leu
ENST00000349780.8:c.3650A>T	ENSP00000343818.4:p.Gln1217Leu
ENST00000360190.8:c.3650A>T	ENSP00000353317.4:p.Gln1217Leu
ENST00000360822.7:c.2960A>T	ENSP00000354065.4:p.Gln987Leu
ENST00000416449.5:c.1832A>T	ENSP00000400395.1:p.Gln611Leu
ENST00000425647.1:c.680A>T	ENSP00000409941.1:p.Gln227Leu
ENST00000473282.6:c.*2474A>T	ENSP00000419265.1:n.*2474A>T
ENST00000480112.5:c.*1477A>T	ENSP00000418418.1:n.*1477A>T
ENST00000483412.5:n.2958A>T
NM_001011649.2:c.3650A>T	NP_001011649.1:p.Gln1217Leu
NM_001272039.1:c.2960A>T	NP_001258968.1:p.Gln987Leu
NM_018249.5:c.3650A>T	NP_060719.4:p.Gln1217Leu
NR_073554.1:n.3919A>T
NR_073555.1:n.3842A>T
NR_073556.1:n.4049A>T
NR_073557.1:n.3922A>T
NR_073558.1:n.3919A>T
XM_006717182.1:c.3554A>T	XP_006717245.1:p.Gln1185Leu
XM_006717185.1:c.2963A>T	XP_006717248.1:p.Gln988Leu
XM_011518860.1:c.3647A>T	XP_011517162.1:p.Gln1216Leu
XM_011518861.1:c.3647A>T	XP_011517163.1:p.Gln1216Leu
XM_017014921.1:c.3551A>T	XP_016870410.1:p.Gln1184Leu
XM_017014922.1:c.2816A>T	XP_016870411.1:p.Gln939Leu
XM_017014923.1:c.2963A>T	XP_016870412.1:p.Gln988Leu
XM_017014924.1:c.1445A>T	XP_016870413.1:p.Gln482Leu
NM_018249.6:c.3650A>T MANE Select	NP_060719.4:p.Gln1217Leu
NM_001011649.3:c.3650A>T	NP_001011649.1:p.Gln1217Leu
NR_073554.2:n.3916A>T
NR_073555.2:n.3839A>T
NR_073556.2:n.4046A>T
NR_073557.2:n.3919A>T
NR_073558.2:n.3916A>T
NM_001272039.2:c.2960A>T	NP_001258968.1:p.Gln987Leu