Canonical Allele Identifier: CA7088745

Gene: RPGRIP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21303544G>A , CM000676.2:g.21303544G>A	GRCh38
NC_000014.8:g.21771703G>A , CM000676.1:g.21771703G>A	GRCh37
NC_000014.7:g.20841543G>A	NCBI36
NG_008933.1:g.20568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.800+1G>A MANE Select	ENSP00000382895.2:n.800+1G>A
ENST00000400017.6:c.800+1G>A	ENSP00000382895.2:n.800+1G>A
ENST00000556336.5:c.719+1G>A	ENSP00000450445.1:n.719+1G>A
ENST00000557771.5:c.719+1G>A	ENSP00000451219.1:n.719+1G>A
NM_020366.3:c.800+1G>A	NP_065099.3:n.800+1G>A
XM_011536983.1:c.767+1G>A	XP_011535285.1:n.767+1G>A
NM_020366.4:c.800+1G>A MANE Select	NP_065099.3:n.800+1G>A