Canonical Allele Identifier: CA484991085
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780597G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312438G>A , CM000676.2:g.21312438G>A GRCh38
NC_000014.8:g.21780597G>A , CM000676.1:g.21780597G>A GRCh37
NC_000014.7:g.20850437G>A NCBI36
NG_008933.1:g.29462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1083G>A MANE Select ENSP00000382895.2:p.Gln361=
ENST00000400017.6:c.1083G>A ENSP00000382895.2:p.Gln361=
ENST00000556336.5:c.1002G>A ENSP00000450445.1:p.Gln334=
ENST00000557771.5:c.1002G>A ENSP00000451219.1:p.Gln334=
NM_020366.3:c.1083G>A NP_065099.3:p.Gln361=
XM_011536983.1:c.1050G>A XP_011535285.1:p.Gln350=
NM_020366.4:c.1083G>A MANE Select NP_065099.3:p.Gln361=