Canonical Allele Identifier: CA388862816
Gene: RPGRIP1 HGNC NCBI

Linked Data

COSMIC: COSM954374

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312467G>T , CM000676.2:g.21312467G>T GRCh38
NC_000014.8:g.21780626G>T , CM000676.1:g.21780626G>T GRCh37
NC_000014.7:g.20850466G>T NCBI36
NG_008933.1:g.29491G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1112G>T MANE Select ENSP00000382895.2:p.Arg371Leu
ENST00000400017.6:c.1112G>T ENSP00000382895.2:p.Arg371Leu
ENST00000556336.5:c.1031G>T ENSP00000450445.1:p.Arg344Leu
ENST00000557771.5:c.1031G>T ENSP00000451219.1:p.Arg344Leu
NM_020366.3:c.1112G>T NP_065099.3:p.Arg371Leu
XM_011536983.1:c.1079G>T XP_011535285.1:p.Arg360Leu
NM_020366.4:c.1112G>T MANE Select NP_065099.3:p.Arg371Leu