Canonical Allele Identifier: CA97583127

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56009785G>C , CM000666.2:g.56009785G>C	GRCh38
NC_000004.11:g.56875951G>C , CM000666.1:g.56875951G>C	GRCh37
NC_000004.10:g.56570708G>C	NCBI36
NG_032806.1:g.65978G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025009.5:c.2387G>C MANE Select	NP_079285.2:p.Arg796Pro
ENST00000257287.5:c.2387G>C MANE Select	ENSP00000257287.3:p.Arg796Pro
NM_025009.4:c.2387G>C	NP_079285.2:p.Arg796Pro
ENST00000257287.4:c.2387G>C	ENSP00000257287.3:p.Arg796Pro
ENST00000506202.1:n.2337G>C
ENST00000706801.1:n.452G>C
XM_005265788.2:c.1316G>C	XP_005265845.1:p.Arg439Pro
XM_005265788.4:c.1316G>C	XP_005265845.1:p.Arg439Pro
XM_006714055.2:c.2354G>C	XP_006714118.1:p.Arg785Pro
XM_006714055.3:c.2354G>C	XP_006714118.1:p.Arg785Pro
XM_011534412.1:c.857G>C	XP_011532714.1:p.Arg286Pro
XM_011534412.2:c.857G>C	XP_011532714.1:p.Arg286Pro