Canonical Allele Identifier: CA7089273

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 881493
• ClinVar RCV Id: RCV001110514 ; RCV001111268 ; RCV002556163
• dbSNP Id: rs28937883
• ExAC: 14:21794102 G / A
• gnomAD v2: 14-21794102-G-A
• gnomAD v3: 14-21325943-G-A
• gnomAD v4: 14-21325943-G-A
• MyVariant Identifiers: chr14:g.21794102G>A (hg19) ; chr14:g.21325943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21325943G>A , CM000676.2:g.21325943G>A	GRCh38
NC_000014.8:g.21794102G>A , CM000676.1:g.21794102G>A	GRCh37
NC_000014.7:g.20863942G>A	NCBI36
NG_008933.1:g.42967G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400017.7:c.2480G>A MANE Select	ENSP00000382895.2:p.Arg827His
ENST00000382933.8:c.689-1680G>A	ENSP00000372391.4:n.689-1680G>A
ENST00000400017.6:c.2480G>A	ENSP00000382895.2:p.Arg827His
ENST00000553927.1:n.1412G>A
ENST00000555322.5:c.907G>A
ENST00000555489.5:c.673G>A	ENSP00000451044.1:n.673G>A
ENST00000555587.5:c.905G>A	ENSP00000451262.1:p.Arg302His
ENST00000556336.5:c.1682-1680G>A	ENSP00000450445.1:n.1682-1680G>A
ENST00000557771.5:c.2366G>A	ENSP00000451219.1:p.Arg789His
NM_020366.3:c.2480G>A	NP_065099.3:p.Arg827His
XM_005267879.2:c.1406G>A	XP_005267936.1:p.Arg469His
XM_005267880.2:c.1373G>A	XP_005267937.1:p.Arg458His
XM_005267881.2:c.854G>A	XP_005267938.1:p.Arg285His
XM_011536978.1:c.1406G>A	XP_011535280.1:p.Arg469His
XM_011536979.1:c.1190G>A	XP_011535281.1:p.Arg397His
XM_011536980.1:c.1061G>A	XP_011535282.1:p.Arg354His
XM_011536981.1:c.1141+873G>A	XP_011535283.1:n.1141+873G>A
XM_011536982.1:c.796+1218G>A	XP_011535284.1:n.796+1218G>A
XM_011536983.1:c.2447G>A	XP_011535285.1:p.Arg816His
XM_005267881.3:c.854G>A	XP_005267938.1:p.Arg285His
XM_017021473.1:c.1141+873G>A	XP_016876962.1:n.1141+873G>A
XM_024449663.1:c.1406G>A	XP_024305431.1:p.Arg469His
XM_024449664.1:c.1141+873G>A	XP_024305432.1:n.1141+873G>A
XM_024449665.1:c.796+1218G>A	XP_024305433.1:n.796+1218G>A
XM_024449666.1:c.796+1218G>A	XP_024305434.1:n.796+1218G>A
NM_001377523.1:c.689-1680G>A	NP_001364452.1:n.689-1680G>A
NM_001377948.1:c.1406G>A	NP_001364877.1:p.Arg469His
NM_001377949.1:c.796+1218G>A	NP_001364878.1:n.796+1218G>A
NM_001377950.1:c.689-1680G>A	NP_001364879.1:n.689-1680G>A
NM_001377951.1:c.191-1680G>A	NP_001364880.1:n.191-1680G>A
NM_020366.4:c.2480G>A MANE Select	NP_065099.3:p.Arg827His