Canonical Allele Identifier: CA484991109
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780609A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312450A>G , CM000676.2:g.21312450A>G GRCh38
NC_000014.8:g.21780609A>G , CM000676.1:g.21780609A>G GRCh37
NC_000014.7:g.20850449A>G NCBI36
NG_008933.1:g.29474A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1095A>G MANE Select ENSP00000382895.2:p.Glu365=
ENST00000400017.6:c.1095A>G ENSP00000382895.2:p.Glu365=
ENST00000556336.5:c.1014A>G ENSP00000450445.1:p.Glu338=
ENST00000557771.5:c.1014A>G ENSP00000451219.1:p.Glu338=
NM_020366.3:c.1095A>G NP_065099.3:p.Glu365=
XM_011536983.1:c.1062A>G XP_011535285.1:p.Glu354=
NM_020366.4:c.1095A>G MANE Select NP_065099.3:p.Glu365=