Canonical Allele Identifier: CA227911

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 4986
• ClinVar RCV Id: RCV000005274 ; RCV000086245
• dbSNP Id: rs28937883
• gnomAD v4: 14-21325943-G-T
• MyVariant Identifiers: chr14:g.21794102G>T (hg19) ; chr14:g.21325943G>T (hg38)
• PubMed: PMID:12920076 ; PMID:20301475

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000400017.7:c.2480G>T MANE Select	ENSP00000382895.2:p.Arg827Leu
ENST00000382933.8:c.689-1680G>T	ENSP00000372391.4:n.689-1680G>T
ENST00000400017.6:c.2480G>T	ENSP00000382895.2:p.Arg827Leu
ENST00000553927.1:n.1412G>T
ENST00000555322.5:c.907G>T
ENST00000555489.5:c.673G>T	ENSP00000451044.1:n.673G>T
ENST00000555587.5:c.905G>T	ENSP00000451262.1:p.Arg302Leu
ENST00000556336.5:c.1682-1680G>T	ENSP00000450445.1:n.1682-1680G>T
ENST00000557771.5:c.2366G>T	ENSP00000451219.1:p.Arg789Leu
NM_020366.3:c.2480G>T	NP_065099.3:p.Arg827Leu
XM_005267879.2:c.1406G>T	XP_005267936.1:p.Arg469Leu
XM_005267880.2:c.1373G>T	XP_005267937.1:p.Arg458Leu
XM_005267881.2:c.854G>T	XP_005267938.1:p.Arg285Leu
XM_011536978.1:c.1406G>T	XP_011535280.1:p.Arg469Leu
XM_011536979.1:c.1190G>T	XP_011535281.1:p.Arg397Leu
XM_011536980.1:c.1061G>T	XP_011535282.1:p.Arg354Leu
XM_011536981.1:c.1141+873G>T	XP_011535283.1:n.1141+873G>T
XM_011536982.1:c.796+1218G>T	XP_011535284.1:n.796+1218G>T
XM_011536983.1:c.2447G>T	XP_011535285.1:p.Arg816Leu
XM_005267881.3:c.854G>T	XP_005267938.1:p.Arg285Leu
XM_017021473.1:c.1141+873G>T	XP_016876962.1:n.1141+873G>T
XM_024449663.1:c.1406G>T	XP_024305431.1:p.Arg469Leu
XM_024449664.1:c.1141+873G>T	XP_024305432.1:n.1141+873G>T
XM_024449665.1:c.796+1218G>T	XP_024305433.1:n.796+1218G>T
XM_024449666.1:c.796+1218G>T	XP_024305434.1:n.796+1218G>T
NM_001377523.1:c.689-1680G>T	NP_001364452.1:n.689-1680G>T
NM_001377948.1:c.1406G>T	NP_001364877.1:p.Arg469Leu
NM_001377949.1:c.796+1218G>T	NP_001364878.1:n.796+1218G>T
NM_001377950.1:c.689-1680G>T	NP_001364879.1:n.689-1680G>T
NM_001377951.1:c.191-1680G>T	NP_001364880.1:n.191-1680G>T
NM_020366.4:c.2480G>T MANE Select	NP_065099.3:p.Arg827Leu