Canonical Allele Identifier: CA7088869

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 955108
• ClinVar RCV Id: RCV001227689 ; RCV003353227
• dbSNP Id: rs774569329
• ExAC: 14:21780617 A / G
• gnomAD v2: 14-21780617-A-G
• gnomAD v3: 14-21312458-A-G
• gnomAD v4: 14-21312458-A-G
• MyVariant Identifiers: chr14:g.21780617A>G (hg19) ; chr14:g.21312458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312458A>G , CM000676.2:g.21312458A>G	GRCh38
NC_000014.8:g.21780617A>G , CM000676.1:g.21780617A>G	GRCh37
NC_000014.7:g.20850457A>G	NCBI36
NG_008933.1:g.29482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1103A>G MANE Select	ENSP00000382895.2:p.Glu368Gly
ENST00000400017.6:c.1103A>G	ENSP00000382895.2:p.Glu368Gly
ENST00000556336.5:c.1022A>G	ENSP00000450445.1:p.Glu341Gly
ENST00000557771.5:c.1022A>G	ENSP00000451219.1:p.Glu341Gly
NM_020366.3:c.1103A>G	NP_065099.3:p.Glu368Gly
XM_011536983.1:c.1070A>G	XP_011535285.1:p.Glu357Gly
NM_020366.4:c.1103A>G MANE Select	NP_065099.3:p.Glu368Gly