Canonical Allele Identifier: CA208406

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55974908G>A , CM000666.2:g.55974908G>A	GRCh38
NC_000004.11:g.56841074G>A , CM000666.1:g.56841074G>A	GRCh37
NC_000004.10:g.56535831G>A	NCBI36
NG_032806.1:g.31101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257287.5:c.1412G>A MANE Select	ENSP00000257287.3:p.Arg471Lys
ENST00000257287.4:c.1412G>A	ENSP00000257287.3:p.Arg471Lys
ENST00000506202.1:n.1362G>A
NM_025009.4:c.1412G>A	NP_079285.2:p.Arg471Lys
XM_005265788.2:c.341G>A	XP_005265845.1:p.Arg114Lys
XM_006714055.2:c.1379G>A	XP_006714118.1:p.Arg460Lys
XM_011534412.1:c.-58+3500G>A	XP_011532714.1:n.-58+3500G>A
XM_005265788.4:c.341G>A	XP_005265845.1:p.Arg114Lys
XM_006714055.3:c.1379G>A	XP_006714118.1:p.Arg460Lys
XM_011534412.2:c.-58+3500G>A	XP_011532714.1:n.-58+3500G>A
NM_025009.5:c.1412G>A MANE Select	NP_079285.2:p.Arg471Lys