Canonical Allele Identifier: CA7088742
Gene: RPGRIP1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.21303530G>T
GRCh37 chr14:g.21771689G>T
Revel Score:
ENST00000556336 0.105
ENST00000557771 0.105
ENST00000400017 (MANE Select) 0.105
ENST00000206660 0.105
gnomAD v2:
14:21771689 G / T
gnomAD v3:
14:21303530 G / T
gnomAD v4:
chr14-21303530-G-T
Joint Max Group AF 0.00011399 (NFE)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00011956 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21303530G>T , CM000676.2:g.21303530G>T GRCh38
NC_000014.8:g.21771689G>T , CM000676.1:g.21771689G>T GRCh37
NC_000014.7:g.20841529G>T NCBI36
NG_008933.1:g.20554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.787G>T MANE Select ENSP00000382895.2:p.Ala263Ser
ENST00000400017.6:c.787G>T ENSP00000382895.2:p.Ala263Ser
ENST00000556336.5:c.706G>T ENSP00000450445.1:p.Ala236Ser
ENST00000557771.5:c.706G>T ENSP00000451219.1:p.Ala236Ser
NM_020366.3:c.787G>T NP_065099.3:p.Ala263Ser
XM_011536983.1:c.754G>T XP_011535285.1:p.Ala252Ser
NM_020366.4:c.787G>T MANE Select NP_065099.3:p.Ala263Ser
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