Canonical Allele Identifier: CA5609135

Gene: CEP55

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93519896A>G , CM000672.2:g.93519896A>G	GRCh38
NC_000010.10:g.95279653A>G , CM000672.1:g.95279653A>G	GRCh37
NC_000010.9:g.95269643A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018131.5:c.1191+89A>G MANE Select	NP_060601.4:n.1191+89A>G
ENST00000371485.8:c.1191+89A>G MANE Select	ENSP00000360540.3:n.1191+89A>G
NM_001127182.1:c.1191+89A>G	NP_001120654.1:n.1191+89A>G
NM_001127182.2:c.1191+89A>G	NP_001120654.2:n.1191+89A>G
NM_018131.4:c.1191+89A>G	NP_060601.3:n.1191+89A>G
ENST00000371485.7:c.1191+89A>G	ENSP00000360540.3:n.1191+89A>G
ENST00000496302.1:n.329A>G
XM_011539918.1:c.684+89A>G	XP_011538220.1:n.684+89A>G
XM_011539919.1:c.684+89A>G	XP_011538221.1:n.684+89A>G
XM_011539920.1:c.684+89A>G	XP_011538222.1:n.684+89A>G
XM_011539920.2:c.684+89A>G	XP_011538222.1:n.684+89A>G
XM_017016372.1:c.684+89A>G	XP_016871861.1:n.684+89A>G
XM_017016373.1:c.684+89A>G	XP_016871862.1:n.684+89A>G