Canonical Allele Identifier: CA1459320847

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55955640C= , CM000666.2:g.55955640C=	GRCh38
NC_000004.11:g.56821806C= , CM000666.1:g.56821806C=	GRCh37
NC_000004.10:g.56516563C=	NCBI36
NG_032806.1:g.11833C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706800.1:n.645+1257C=
ENST00000257287.5:c.472+1257C= MANE Select	ENSP00000257287.3:n.472+1257C=
ENST00000257287.4:c.472+1257C=	ENSP00000257287.3:n.472+1257C=
ENST00000422247.6:c.472+1257C=	ENSP00000412799.2:n.472+1257C=
ENST00000515081.1:n.106+1257C=
NM_025009.4:c.472+1257C=	NP_079285.2:n.472+1257C=
XM_006714055.2:c.472+1257C=	XP_006714118.1:n.472+1257C=
XR_941064.1:n.472-3169G=
XM_005265788.4:c.-596+1257C=	XP_005265845.1:n.-596+1257C=
XM_006714055.3:c.472+1257C=	XP_006714118.1:n.472+1257C=
NM_025009.5:c.472+1257C= MANE Select	NP_079285.2:n.472+1257C=