Canonical Allele Identifier: CA388862764
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312453T>G , CM000676.2:g.21312453T>G GRCh38
NC_000014.8:g.21780612T>G , CM000676.1:g.21780612T>G GRCh37
NC_000014.7:g.20850452T>G NCBI36
NG_008933.1:g.29477T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1098T>G MANE Select ENSP00000382895.2:p.Asp366Glu
ENST00000400017.6:c.1098T>G ENSP00000382895.2:p.Asp366Glu
ENST00000556336.5:c.1017T>G ENSP00000450445.1:p.Asp339Glu
ENST00000557771.5:c.1017T>G ENSP00000451219.1:p.Asp339Glu
NM_020366.3:c.1098T>G NP_065099.3:p.Asp366Glu
XM_011536983.1:c.1065T>G XP_011535285.1:p.Asp355Glu
NM_020366.4:c.1098T>G MANE Select NP_065099.3:p.Asp366Glu