Canonical Allele Identifier: CA7088652
Gene: RPGRIP1 HGNC NCBI
ClinVar RCV:
RCV003019892
ClinVar Variation:
2108994
dbSNP:
763210717
gnomAD v2:
14:21769321 G / A
gnomAD v4:
chr14-21301162-G-A
Joint Max Group AF 0.00004473 (SAS)
Exomes Max Group AF 0.00004696 (SAS)
MyVariant.info:
GRCh38 chr14:g.21301162G>A
GRCh37 chr14:g.21769321G>A
Revel Score:
ENST00000556336 0.024
ENST00000557771 0.024
ENST00000400017 (MANE Select) 0.024
ENST00000206660 0.024
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21301162G>A , CM000676.2:g.21301162G>A GRCh38
NC_000014.8:g.21769321G>A , CM000676.1:g.21769321G>A GRCh37
NC_000014.7:g.20839161G>A NCBI36
NG_008933.1:g.18186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.415G>A MANE Select ENSP00000382895.2:p.Ala139Thr
ENST00000400017.6:c.415G>A ENSP00000382895.2:p.Ala139Thr
ENST00000554750.1:n.14G>A
ENST00000556336.5:c.415G>A ENSP00000450445.1:p.Ala139Thr
ENST00000557771.5:c.415G>A ENSP00000451219.1:p.Ala139Thr
NM_020366.3:c.415G>A NP_065099.3:p.Ala139Thr
XM_011536983.1:c.415G>A XP_011535285.1:p.Ala139Thr
NM_020366.4:c.415G>A MANE Select NP_065099.3:p.Ala139Thr
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