Canonical Allele Identifier: CA7088791

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 379572
• ClinVar RCV Id: RCV000417812 ; RCV000585329 ; RCV001113069 ; RCV001083158 ; RCV001113068 ; RCV003932581
• dbSNP Id: rs150107283
• ExAC: 14:21778769 A / G
• gnomAD v2: 14-21778769-A-G
• gnomAD v3: 14-21310610-A-G
• gnomAD v4: 14-21310610-A-G
• MyVariant Identifiers: chr14:g.21778769A>G (hg19) ; chr14:g.21310610A>G (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21310610A>G , CM000676.2:g.21310610A>G	GRCh38
NC_000014.8:g.21778769A>G , CM000676.1:g.21778769A>G	GRCh37
NC_000014.7:g.20848609A>G	NCBI36
NG_008933.1:g.27634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.930+3A>G MANE Select	ENSP00000382895.2:n.930+3A>G
ENST00000400017.6:c.930+3A>G	ENSP00000382895.2:n.930+3A>G
ENST00000556336.5:c.849+3A>G	ENSP00000450445.1:n.849+3A>G
ENST00000557771.5:c.849+3A>G	ENSP00000451219.1:n.849+3A>G
NM_020366.3:c.930+3A>G	NP_065099.3:n.930+3A>G
XM_011536983.1:c.897+3A>G	XP_011535285.1:n.897+3A>G
NM_020366.4:c.930+3A>G MANE Select	NP_065099.3:n.930+3A>G