Canonical Allele Identifier: CA2927574

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55957252C>T , CM000666.2:g.55957252C>T	GRCh38
NC_000004.11:g.56823418C>T , CM000666.1:g.56823418C>T	GRCh37
NC_000004.10:g.56518175C>T	NCBI36
NG_032806.1:g.13445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706800.1:n.675C>T
ENST00000257287.5:c.502C>T MANE Select	ENSP00000257287.3:p.Arg168Cys
ENST00000257287.4:c.502C>T	ENSP00000257287.3:p.Arg168Cys
ENST00000422247.6:c.502C>T	ENSP00000412799.2:p.Arg168Cys
ENST00000515081.1:n.136C>T
NM_025009.4:c.502C>T	NP_079285.2:p.Arg168Cys
XM_006714055.2:c.502C>T	XP_006714118.1:p.Arg168Cys
XR_941064.1:n.472-4781G>A
XM_005265788.4:c.-566C>T	XP_005265845.1:n.-566C>T
XM_006714055.3:c.502C>T	XP_006714118.1:p.Arg168Cys
NM_025009.5:c.502C>T MANE Select	NP_079285.2:p.Arg168Cys