Canonical Allele Identifier: CA7088532

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 312779
• ClinVar RCV Id: RCV000285535 ; RCV000345131 ; RCV000416234 ; RCV001079403
• dbSNP Id: rs201384449
• ExAC: 14:21756185 T / C
• gnomAD v2: 14-21756185-T-C
• gnomAD v3: 14-21288026-T-C
• gnomAD v4: 14-21288026-T-C
• MyVariant Identifiers: chr14:g.21756185T>C (hg19) ; chr14:g.21288026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21288026T>C , CM000676.2:g.21288026T>C	GRCh38
NC_000014.8:g.21756185T>C , CM000676.1:g.21756185T>C	GRCh37
NC_000014.7:g.20826025T>C	NCBI36
NG_008933.1:g.5050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.50T>C MANE Select	ENSP00000382895.2:p.Ile17Thr
ENST00000400017.6:c.50T>C	ENSP00000382895.2:p.Ile17Thr
ENST00000556336.5:c.50T>C	ENSP00000450445.1:p.Ile17Thr
ENST00000557771.5:c.50T>C	ENSP00000451219.1:p.Ile17Thr
NM_020366.3:c.50T>C	NP_065099.3:p.Ile17Thr
XM_011536983.1:c.50T>C	XP_011535285.1:p.Ile17Thr
NM_020366.4:c.50T>C MANE Select	NP_065099.3:p.Ile17Thr