Canonical Allele Identifier: CA7088688

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 285108
• ClinVar RCV Id: RCV000276671 ; RCV000322396 ; RCV000358467 ; RCV000959229 ; RCV003940004
• dbSNP Id: rs186266220
• ExAC: 14:21770698 C / G
• gnomAD v2: 14-21770698-C-G
• gnomAD v3: 14-21302539-C-G
• gnomAD v4: 14-21302539-C-G
• MyVariant Identifiers: chr14:g.21770698C>G (hg19) ; chr14:g.21302539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21302539C>G , CM000676.2:g.21302539C>G	GRCh38
NC_000014.8:g.21770698C>G , CM000676.1:g.21770698C>G	GRCh37
NC_000014.7:g.20840538C>G	NCBI36
NG_008933.1:g.19563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.542C>G MANE Select	ENSP00000382895.2:p.Ala181Gly
ENST00000400017.6:c.542C>G	ENSP00000382895.2:p.Ala181Gly
ENST00000554750.1:n.141C>G
ENST00000556336.5:c.542C>G	ENSP00000450445.1:p.Ala181Gly
ENST00000557771.5:c.542C>G	ENSP00000451219.1:p.Ala181Gly
NM_020366.3:c.542C>G	NP_065099.3:p.Ala181Gly
XM_011536983.1:c.542C>G	XP_011535285.1:p.Ala181Gly
NM_020366.4:c.542C>G MANE Select	NP_065099.3:p.Ala181Gly