Canonical Allele Identifier: CA388862939
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312504A>T , CM000676.2:g.21312504A>T GRCh38
NC_000014.8:g.21780663A>T , CM000676.1:g.21780663A>T GRCh37
NC_000014.7:g.20850503A>T NCBI36
NG_008933.1:g.29528A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1149A>T MANE Select ENSP00000382895.2:p.Glu383Asp
ENST00000400017.6:c.1149A>T ENSP00000382895.2:p.Glu383Asp
ENST00000556336.5:c.1068A>T ENSP00000450445.1:p.Glu356Asp
ENST00000557771.5:c.1068A>T ENSP00000451219.1:p.Glu356Asp
NM_020366.3:c.1149A>T NP_065099.3:p.Glu383Asp
XM_011536983.1:c.1116A>T XP_011535285.1:p.Glu372Asp
NM_020366.4:c.1149A>T MANE Select NP_065099.3:p.Glu383Asp