Canonical Allele Identifier: CA374721047

Gene: CDK5RAP2

Linked Data

• MyVariant Identifiers: chr9:g.123201742C>G (hg19) ; chr9:g.120439464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439464C>G , CM000671.2:g.120439464C>G	GRCh38
NC_000009.11:g.123201742C>G , CM000671.1:g.123201742C>G	GRCh37
NC_000009.10:g.122241563C>G	NCBI36
NG_008999.1:g.145696G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2967G>C	ENSP00000354065.4:p.Leu989Phe
ENST00000416449.6:c.3561G>C	ENSP00000400395.2:p.Leu1187Phe
ENST00000479584.2:n.1904G>C
ENST00000684780.1:n.3947G>C
ENST00000685866.1:c.*1484G>C	ENSP00000509484.1:n.*1484G>C
ENST00000686376.1:c.3737G>C	ENSP00000510021.1:n.3737G>C
ENST00000686842.1:n.7211G>C
ENST00000687279.1:c.3654G>C	ENSP00000508692.1:p.Leu1218Phe
ENST00000687311.1:n.3620G>C
ENST00000687633.1:c.3558G>C	ENSP00000510289.1:p.Leu1186Phe
ENST00000688923.1:n.3029G>C
ENST00000689688.1:c.3657G>C	ENSP00000510155.1:p.Leu1219Phe
ENST00000690646.1:c.3561G>C	ENSP00000510383.1:p.Leu1187Phe
ENST00000690814.1:c.*833G>C	ENSP00000508792.1:n.*833G>C
ENST00000691504.1:n.3551G>C
ENST00000692155.1:c.3737G>C	ENSP00000510290.1:n.3737G>C
ENST00000692746.1:n.3564G>C
ENST00000693386.1:c.3561G>C	ENSP00000510003.1:p.Leu1187Phe
ENST00000693433.1:n.3551G>C
ENST00000693714.1:n.3604G>C
ENST00000693728.1:c.3561G>C	ENSP00000510580.1:p.Leu1187Phe
ENST00000349780.9:c.3657G>C MANE Select	ENSP00000343818.4:p.Leu1219Phe
ENST00000349780.8:c.3657G>C	ENSP00000343818.4:p.Leu1219Phe
ENST00000360190.8:c.3657G>C	ENSP00000353317.4:p.Leu1219Phe
ENST00000360822.7:c.2967G>C	ENSP00000354065.4:p.Leu989Phe
ENST00000416449.5:c.1839G>C	ENSP00000400395.1:p.Leu613Phe
ENST00000425647.1:c.687G>C	ENSP00000409941.1:p.Leu229Phe
ENST00000473282.6:c.*2481G>C	ENSP00000419265.1:n.*2481G>C
ENST00000480112.5:c.*1484G>C	ENSP00000418418.1:n.*1484G>C
ENST00000483412.5:n.2965G>C
NM_001011649.2:c.3657G>C	NP_001011649.1:p.Leu1219Phe
NM_001272039.1:c.2967G>C	NP_001258968.1:p.Leu989Phe
NM_018249.5:c.3657G>C	NP_060719.4:p.Leu1219Phe
NR_073554.1:n.3926G>C
NR_073555.1:n.3849G>C
NR_073556.1:n.4056G>C
NR_073557.1:n.3929G>C
NR_073558.1:n.3926G>C
XM_006717182.1:c.3561G>C	XP_006717245.1:p.Leu1187Phe
XM_006717185.1:c.2970G>C	XP_006717248.1:p.Leu990Phe
XM_011518860.1:c.3654G>C	XP_011517162.1:p.Leu1218Phe
XM_011518861.1:c.3654G>C	XP_011517163.1:p.Leu1218Phe
XM_017014921.1:c.3558G>C	XP_016870410.1:p.Leu1186Phe
XM_017014922.1:c.2823G>C	XP_016870411.1:p.Leu941Phe
XM_017014923.1:c.2970G>C	XP_016870412.1:p.Leu990Phe
XM_017014924.1:c.1452G>C	XP_016870413.1:p.Leu484Phe
NM_018249.6:c.3657G>C MANE Select	NP_060719.4:p.Leu1219Phe
NM_001011649.3:c.3657G>C	NP_001011649.1:p.Leu1219Phe
NR_073554.2:n.3923G>C
NR_073555.2:n.3846G>C
NR_073556.2:n.4053G>C
NR_073557.2:n.3926G>C
NR_073558.2:n.3923G>C
NM_001272039.2:c.2967G>C	NP_001258968.1:p.Leu989Phe