Canonical Allele Identifier: CA388862811
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312466C>G , CM000676.2:g.21312466C>G GRCh38
NC_000014.8:g.21780625C>G , CM000676.1:g.21780625C>G GRCh37
NC_000014.7:g.20850465C>G NCBI36
NG_008933.1:g.29490C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1111C>G MANE Select ENSP00000382895.2:p.Arg371Gly
ENST00000400017.6:c.1111C>G ENSP00000382895.2:p.Arg371Gly
ENST00000556336.5:c.1030C>G ENSP00000450445.1:p.Arg344Gly
ENST00000557771.5:c.1030C>G ENSP00000451219.1:p.Arg344Gly
NM_020366.3:c.1111C>G NP_065099.3:p.Arg371Gly
XM_011536983.1:c.1078C>G XP_011535285.1:p.Arg360Gly
NM_020366.4:c.1111C>G MANE Select NP_065099.3:p.Arg371Gly