Canonical Allele Identifier: CA484991147
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780627A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312468A>T , CM000676.2:g.21312468A>T GRCh38
NC_000014.8:g.21780627A>T , CM000676.1:g.21780627A>T GRCh37
NC_000014.7:g.20850467A>T NCBI36
NG_008933.1:g.29492A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1113A>T MANE Select ENSP00000382895.2:p.Arg371=
ENST00000400017.6:c.1113A>T ENSP00000382895.2:p.Arg371=
ENST00000556336.5:c.1032A>T ENSP00000450445.1:p.Arg344=
ENST00000557771.5:c.1032A>T ENSP00000451219.1:p.Arg344=
NM_020366.3:c.1113A>T NP_065099.3:p.Arg371=
XM_011536983.1:c.1080A>T XP_011535285.1:p.Arg360=
NM_020366.4:c.1113A>T MANE Select NP_065099.3:p.Arg371=