Canonical Allele Identifier: CA7088863

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 708095
• ClinVar RCV Id: RCV000879291 ; RCV001114452 ; RCV001114453
• dbSNP Id: rs371312060
• ExAC: 14:21780583 C / A
• gnomAD v2: 14-21780583-C-A
• gnomAD v3: 14-21312424-C-A
• gnomAD v4: 14-21312424-C-A
• MyVariant Identifiers: chr14:g.21780583C>A (hg19) ; chr14:g.21312424C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312424C>A , CM000676.2:g.21312424C>A	GRCh38
NC_000014.8:g.21780583C>A , CM000676.1:g.21780583C>A	GRCh37
NC_000014.7:g.20850423C>A	NCBI36
NG_008933.1:g.29448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-9C>A MANE Select	ENSP00000382895.2:n.1078-9C>A
ENST00000400017.6:c.1078-9C>A	ENSP00000382895.2:n.1078-9C>A
ENST00000556336.5:c.997-9C>A	ENSP00000450445.1:n.997-9C>A
ENST00000557771.5:c.997-9C>A	ENSP00000451219.1:n.997-9C>A
NM_020366.3:c.1078-9C>A	NP_065099.3:n.1078-9C>A
XM_011536983.1:c.1045-9C>A	XP_011535285.1:n.1045-9C>A
NM_020366.4:c.1078-9C>A MANE Select	NP_065099.3:n.1078-9C>A