Canonical Allele Identifier: CA2122452656
Gene: RPGRIP1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312084C= , CM000676.2:g.21312084C= GRCh38
NC_000014.8:g.21780243C= , CM000676.1:g.21780243C= GRCh37
NC_000014.7:g.20850083C= NCBI36
NG_008933.1:g.29108C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+114C= MANE Select ENSP00000382895.2:n.1077+114C=
ENST00000400017.6:c.1077+114C= ENSP00000382895.2:n.1077+114C=
ENST00000556336.5:c.996+114C= ENSP00000450445.1:n.996+114C=
ENST00000557771.5:c.996+114C= ENSP00000451219.1:n.996+114C=
NM_020366.3:c.1077+114C= NP_065099.3:n.1077+114C=
XM_011536983.1:c.1044+114C= XP_011535285.1:n.1044+114C=
NM_020366.4:c.1077+114C= MANE Select NP_065099.3:n.1077+114C=
Search 100 bp 5'
Search 100 bp 3'