Canonical Allele Identifier: CA5609065

Gene: CEP55

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93518926G>A , CM000672.2:g.93518926G>A	GRCh38
NC_000010.10:g.95278683G>A , CM000672.1:g.95278683G>A	GRCh37
NC_000010.9:g.95268673G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371485.8:c.1043G>A MANE Select	ENSP00000360540.3:p.Arg348Lys
ENST00000371485.7:c.1043G>A	ENSP00000360540.3:p.Arg348Lys
ENST00000445435.1:c.562G>A
ENST00000496302.1:n.92G>A
NM_001127182.1:c.1043G>A	NP_001120654.1:p.Arg348Lys
NM_018131.4:c.1043G>A	NP_060601.3:p.Arg348Lys
XM_011539918.1:c.536G>A	XP_011538220.1:p.Arg179Lys
XM_011539919.1:c.536G>A	XP_011538221.1:p.Arg179Lys
XM_011539920.1:c.536G>A	XP_011538222.1:p.Arg179Lys
XM_011539920.2:c.536G>A	XP_011538222.1:p.Arg179Lys
XM_017016372.1:c.536G>A	XP_016871861.1:p.Arg179Lys
XM_017016373.1:c.536G>A	XP_016871862.1:p.Arg179Lys
NM_001127182.2:c.1043G>A	NP_001120654.2:p.Arg348Lys
NM_018131.5:c.1043G>A MANE Select	NP_060601.4:p.Arg348Lys