Canonical Allele Identifier: CA2800816069

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312172T>G , CM000676.2:g.21312172T>G	GRCh38
NC_000014.8:g.21780331T>G , CM000676.1:g.21780331T>G	GRCh37
NC_000014.7:g.20850171T>G	NCBI36
NG_008933.1:g.29196T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+202T>G MANE Select	ENSP00000382895.2:n.1077+202T>G
ENST00000400017.6:c.1077+202T>G	ENSP00000382895.2:n.1077+202T>G
ENST00000556336.5:c.996+202T>G	ENSP00000450445.1:n.996+202T>G
ENST00000557771.5:c.996+202T>G	ENSP00000451219.1:n.996+202T>G
NM_020366.3:c.1077+202T>G	NP_065099.3:n.1077+202T>G
XM_011536983.1:c.1044+202T>G	XP_011535285.1:n.1044+202T>G
NM_020366.4:c.1077+202T>G MANE Select	NP_065099.3:n.1077+202T>G