Canonical Allele Identifier: CA2624069911
Gene: RPGRIP1 HGNC NCBI

Linked Data

gnomAD v4: 14-21312050-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312050G>T , CM000676.2:g.21312050G>T GRCh38
NC_000014.8:g.21780209G>T , CM000676.1:g.21780209G>T GRCh37
NC_000014.7:g.20850049G>T NCBI36
NG_008933.1:g.29074G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+80G>T MANE Select ENSP00000382895.2:n.1077+80G>T
ENST00000400017.6:c.1077+80G>T ENSP00000382895.2:n.1077+80G>T
ENST00000556336.5:c.996+80G>T ENSP00000450445.1:n.996+80G>T
ENST00000557771.5:c.996+80G>T ENSP00000451219.1:n.996+80G>T
NM_020366.3:c.1077+80G>T NP_065099.3:n.1077+80G>T
XM_011536983.1:c.1044+80G>T XP_011535285.1:n.1044+80G>T
NM_020366.4:c.1077+80G>T MANE Select NP_065099.3:n.1077+80G>T
Search 100 bp 5'
Search 100 bp 3'