Canonical Allele Identifier: CA201680
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195355
ClinVar RCV Id: RCV000175918 RCV000724658 RCV001261169 RCV001852161
dbSNP Id: rs192003551
ExAC: 14:21762904 C / T
gnomAD v2: 14-21762904-C-T
gnomAD v3: 14-21294745-C-T
gnomAD v4: 14-21294745-C-T
COSMIC: COSM263433 COSM3494808
MyVariant Identifiers: chr14:g.21762904C>T (hg19) chr14:g.21294745C>T (hg38)
PubMed: PMID:23105016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21294745C>T , CM000676.2:g.21294745C>T GRCh38
NC_000014.8:g.21762904C>T , CM000676.1:g.21762904C>T GRCh37
NC_000014.7:g.20832744C>T NCBI36
NG_008933.1:g.11769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.154C>T MANE Select ENSP00000382895.2:p.Arg52Ter
ENST00000400017.6:c.154C>T ENSP00000382895.2:p.Arg52Ter
ENST00000556336.5:c.154C>T ENSP00000450445.1:p.Arg52Ter
ENST00000557771.5:c.154C>T ENSP00000451219.1:p.Arg52Ter
NM_020366.3:c.154C>T NP_065099.3:p.Arg52Ter
XM_011536983.1:c.154C>T XP_011535285.1:p.Arg52Ter
NM_020366.4:c.154C>T MANE Select NP_065099.3:p.Arg52Ter
Search 100 bp 5'
Search 100 bp 3'