Canonical Allele Identifier: CA117158

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21294785G>A , CM000676.2:g.21294785G>A	GRCh38
NC_000014.8:g.21762944G>A , CM000676.1:g.21762944G>A	GRCh37
NC_000014.7:g.20832784G>A	NCBI36
NG_008933.1:g.11809G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.194G>A MANE Select	NP_065099.3:p.Trp65Ter
ENST00000400017.7:c.194G>A MANE Select	ENSP00000382895.2:p.Trp65Ter
NM_020366.3:c.194G>A	NP_065099.3:p.Trp65Ter
ENST00000400017.6:c.194G>A	ENSP00000382895.2:p.Trp65Ter
ENST00000556336.5:c.194G>A	ENSP00000450445.1:p.Trp65Ter
ENST00000557771.5:c.194G>A	ENSP00000451219.1:p.Trp65Ter
XM_011536983.1:c.194G>A	XP_011535285.1:p.Trp65Ter