Canonical Allele Identifier: CA5608889

Gene: CEP55

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93503308G>C , CM000672.2:g.93503308G>C	GRCh38
NC_000010.10:g.95263065G>C , CM000672.1:g.95263065G>C	GRCh37
NC_000010.9:g.95253055G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371485.8:c.379G>C MANE Select	ENSP00000360540.3:p.Val127Leu
ENST00000371485.7:c.379G>C	ENSP00000360540.3:p.Val127Leu
NM_001127182.1:c.379G>C	NP_001120654.1:p.Val127Leu
NM_018131.4:c.379G>C	NP_060601.3:p.Val127Leu
XM_011539918.1:c.-129G>C	XP_011538220.1:n.-129G>C
XM_011539919.1:c.-129G>C	XP_011538221.1:n.-129G>C
XM_011539920.1:c.-129G>C	XP_011538222.1:n.-129G>C
XM_011539920.2:c.-129G>C	XP_011538222.1:n.-129G>C
XM_017016372.1:c.-129G>C	XP_016871861.1:n.-129G>C
XM_017016373.1:c.-129G>C	XP_016871862.1:n.-129G>C
NM_001127182.2:c.379G>C	NP_001120654.2:p.Val127Leu
NM_018131.5:c.379G>C MANE Select	NP_060601.4:p.Val127Leu