Canonical Allele Identifier: CA7088904

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 312788
• ClinVar RCV Id: RCV000301537 ; RCV000390467
• dbSNP Id: rs749098397
• ExAC: 14:21785903 G / A
• gnomAD v2: 14-21785903-G-A
• gnomAD v4: 14-21317744-G-A
• MyVariant Identifiers: chr14:g.21785903G>A (hg19) ; chr14:g.21317744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21317744G>A , CM000676.2:g.21317744G>A	GRCh38
NC_000014.8:g.21785903G>A , CM000676.1:g.21785903G>A	GRCh37
NC_000014.7:g.20855743G>A	NCBI36
NG_008933.1:g.34768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1200G>A MANE Select	ENSP00000382895.2:p.Glu400=
ENST00000382933.8:c.126G>A	ENSP00000372391.4:p.Glu42=
ENST00000400017.6:c.1200G>A	ENSP00000382895.2:p.Glu400=
ENST00000556336.5:c.1119G>A	ENSP00000450445.1:p.Glu373=
ENST00000557351.1:c.126G>A	ENSP00000452215.1:p.Glu42=
ENST00000557771.5:c.1119G>A	ENSP00000451219.1:p.Glu373=
NM_020366.3:c.1200G>A	NP_065099.3:p.Glu400=
XM_005267879.2:c.126G>A	XP_005267936.1:p.Glu42=
XM_005267880.2:c.126G>A	XP_005267937.1:p.Glu42=
XM_011536978.1:c.126G>A	XP_011535280.1:p.Glu42=
XM_011536979.1:c.126G>A	XP_011535281.1:p.Glu42=
XM_011536980.1:c.126G>A	XP_011535282.1:p.Glu42=
XM_011536981.1:c.126G>A	XP_011535283.1:p.Glu42=
XM_011536982.1:c.126G>A	XP_011535284.1:p.Glu42=
XM_011536983.1:c.1167G>A	XP_011535285.1:p.Glu389=
XM_017021473.1:c.126G>A	XP_016876962.1:p.Glu42=
XM_024449663.1:c.126G>A	XP_024305431.1:p.Glu42=
XM_024449664.1:c.126G>A	XP_024305432.1:p.Glu42=
XM_024449665.1:c.126G>A	XP_024305433.1:p.Glu42=
XM_024449666.1:c.126G>A	XP_024305434.1:p.Glu42=
NM_001377523.1:c.126G>A	NP_001364452.1:p.Glu42=
NM_001377948.1:c.126G>A	NP_001364877.1:p.Glu42=
NM_001377949.1:c.126G>A	NP_001364878.1:p.Glu42=
NM_001377950.1:c.126G>A	NP_001364879.1:p.Glu42=
NM_020366.4:c.1200G>A MANE Select	NP_065099.3:p.Glu400=