Canonical Allele Identifier: CA388862689
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312435T>A , CM000676.2:g.21312435T>A GRCh38
NC_000014.8:g.21780594T>A , CM000676.1:g.21780594T>A GRCh37
NC_000014.7:g.20850434T>A NCBI36
NG_008933.1:g.29459T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1080T>A MANE Select ENSP00000382895.2:p.Phe360Leu
ENST00000400017.6:c.1080T>A ENSP00000382895.2:p.Phe360Leu
ENST00000556336.5:c.999T>A ENSP00000450445.1:p.Phe333Leu
ENST00000557771.5:c.999T>A ENSP00000451219.1:p.Phe333Leu
NM_020366.3:c.1080T>A NP_065099.3:p.Phe360Leu
XM_011536983.1:c.1047T>A XP_011535285.1:p.Phe349Leu
NM_020366.4:c.1080T>A MANE Select NP_065099.3:p.Phe360Leu