Canonical Allele Identifier: CA356967756

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55954298A>T , CM000666.2:g.55954298A>T	GRCh38
NC_000004.11:g.56820464A>T , CM000666.1:g.56820464A>T	GRCh37
NC_000004.10:g.56515221A>T	NCBI36
NG_032806.1:g.10491A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706800.1:n.560A>T
ENST00000257287.5:c.387A>T MANE Select	ENSP00000257287.3:p.Lys129Asn
ENST00000257287.4:c.387A>T	ENSP00000257287.3:p.Lys129Asn
ENST00000422247.6:c.387A>T	ENSP00000412799.2:p.Lys129Asn
ENST00000515081.1:n.21A>T
NM_025009.4:c.387A>T	NP_079285.2:p.Lys129Asn
XM_006714055.2:c.387A>T	XP_006714118.1:p.Lys129Asn
XR_941064.1:n.472-1827T>A
XM_005265788.4:c.-681A>T	XP_005265845.1:n.-681A>T
XM_006714055.3:c.387A>T	XP_006714118.1:p.Lys129Asn
NM_025009.5:c.387A>T MANE Select	NP_079285.2:p.Lys129Asn