Canonical Allele Identifier: CA356981404

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55971291G>T , CM000666.2:g.55971291G>T	GRCh38
NC_000004.11:g.56837457G>T , CM000666.1:g.56837457G>T	GRCh37
NC_000004.10:g.56532214G>T	NCBI36
NG_032806.1:g.27484G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025009.5:c.1132G>T MANE Select	NP_079285.2:p.Glu378Ter
ENST00000257287.5:c.1132G>T MANE Select	ENSP00000257287.3:p.Glu378Ter
NM_025009.4:c.1132G>T	NP_079285.2:p.Glu378Ter
ENST00000257287.4:c.1132G>T	ENSP00000257287.3:p.Glu378Ter
ENST00000506202.1:n.1082G>T
XM_005265788.2:c.61G>T	XP_005265845.1:p.Glu21Ter
XM_005265788.4:c.61G>T	XP_005265845.1:p.Glu21Ter
XM_006714055.2:c.1099G>T	XP_006714118.1:p.Glu367Ter
XM_006714055.3:c.1099G>T	XP_006714118.1:p.Glu367Ter
XR_941063.1:n.364-411C>A
XR_941064.1:n.364-411C>A