Canonical Allele Identifier: CA071653

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 221937
• ClinVar RCV Id: RCV000207372 ; RCV000384797 ; RCV001002218 ; RCV001800533 ; RCV001086986 ; RCV001800534 ; RCV003955239
• dbSNP Id: rs372615343
• ExAC: 14:21775897 A / G
• gnomAD v2: 14-21775897-A-G
• gnomAD v3: 14-21307738-A-G
• gnomAD v4: 14-21307738-A-G
• MyVariant Identifiers: chr14:g.21775897A>G (hg19) ; chr14:g.21307738A>G (hg38)
• PubMed: PMID:26893459

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21307738A>G , CM000676.2:g.21307738A>G	GRCh38
NC_000014.8:g.21775897A>G , CM000676.1:g.21775897A>G	GRCh37
NC_000014.7:g.20845737A>G	NCBI36
NG_008933.1:g.24762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.808A>G MANE Select	ENSP00000382895.2:p.Ile270Val
ENST00000400017.6:c.808A>G	ENSP00000382895.2:p.Ile270Val
ENST00000556336.5:c.727A>G	ENSP00000450445.1:p.Ile243Val
ENST00000557771.5:c.727A>G	ENSP00000451219.1:p.Ile243Val
NM_020366.3:c.808A>G	NP_065099.3:p.Ile270Val
XM_011536983.1:c.775A>G	XP_011535285.1:p.Ile259Val
NM_020366.4:c.808A>G MANE Select	NP_065099.3:p.Ile270Val