Canonical Allele Identifier: CA201680

Gene: RPGRIP1

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

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