Canonical Allele Identifier: CA7088859

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs768628497
• ExAC: 14:21780575 G / T
• gnomAD v2: 14-21780575-G-T
• gnomAD v3: 14-21312416-G-T
• gnomAD v4: 14-21312416-G-T
• MyVariant Identifiers: chr14:g.21780575G>T (hg19) ; chr14:g.21312416G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312416G>T , CM000676.2:g.21312416G>T	GRCh38
NC_000014.8:g.21780575G>T , CM000676.1:g.21780575G>T	GRCh37
NC_000014.7:g.20850415G>T	NCBI36
NG_008933.1:g.29440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-17G>T MANE Select	ENSP00000382895.2:n.1078-17G>T
ENST00000400017.6:c.1078-17G>T	ENSP00000382895.2:n.1078-17G>T
ENST00000556336.5:c.997-17G>T	ENSP00000450445.1:n.997-17G>T
ENST00000557771.5:c.997-17G>T	ENSP00000451219.1:n.997-17G>T
NM_020366.3:c.1078-17G>T	NP_065099.3:n.1078-17G>T
XM_011536983.1:c.1045-17G>T	XP_011535285.1:n.1045-17G>T
NM_020366.4:c.1078-17G>T MANE Select	NP_065099.3:n.1078-17G>T