Canonical Allele Identifier: CA388867220

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 1411834
• ClinVar RCV Id: RCV001922951
• dbSNP Id: rs1882874181
• gnomAD v4: 14-21324756-A-G
• MyVariant Identifiers: chr14:g.21792915A>G (hg19) ; chr14:g.21324756A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324756A>G , CM000676.2:g.21324756A>G	GRCh38
NC_000014.8:g.21792915A>G , CM000676.1:g.21792915A>G	GRCh37
NC_000014.7:g.20862755A>G	NCBI36
NG_008933.1:g.41780A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1901A>G MANE Select	ENSP00000382895.2:p.Gln634Arg
ENST00000382933.8:c.688+2752A>G	ENSP00000372391.4:n.688+2752A>G
ENST00000400017.6:c.1901A>G	ENSP00000382895.2:p.Gln634Arg
ENST00000553500.5:n.328+31A>G
ENST00000553927.1:n.833A>G
ENST00000554303.1:c.287A>G	ENSP00000450426.1:p.Gln96Arg
ENST00000555322.5:c.328A>G
ENST00000555489.5:c.212+31A>G	ENSP00000451044.1:n.212+31A>G
ENST00000555587.5:c.326A>G	ENSP00000451262.1:p.Gln109Arg
ENST00000556336.5:c.1681+2752A>G	ENSP00000450445.1:n.1681+2752A>G
ENST00000557771.5:c.1787A>G	ENSP00000451219.1:p.Gln596Arg
NM_020366.3:c.1901A>G	NP_065099.3:p.Gln634Arg
XM_005267879.2:c.827A>G	XP_005267936.1:p.Gln276Arg
XM_005267880.2:c.794A>G	XP_005267937.1:p.Gln265Arg
XM_005267881.2:c.275A>G	XP_005267938.1:p.Gln92Arg
XM_011536978.1:c.827A>G	XP_011535280.1:p.Gln276Arg
XM_011536979.1:c.796+31A>G	XP_011535281.1:n.796+31A>G
XM_011536980.1:c.796+31A>G	XP_011535282.1:n.796+31A>G
XM_011536981.1:c.827A>G	XP_011535283.1:p.Gln276Arg
XM_011536982.1:c.796+31A>G	XP_011535284.1:n.796+31A>G
XM_011536983.1:c.1868A>G	XP_011535285.1:p.Gln623Arg
XM_005267881.3:c.275A>G	XP_005267938.1:p.Gln92Arg
XM_017021473.1:c.827A>G	XP_016876962.1:p.Gln276Arg
XM_024449663.1:c.827A>G	XP_024305431.1:p.Gln276Arg
XM_024449664.1:c.827A>G	XP_024305432.1:p.Gln276Arg
XM_024449665.1:c.796+31A>G	XP_024305433.1:n.796+31A>G
XM_024449666.1:c.796+31A>G	XP_024305434.1:n.796+31A>G
NM_001377523.1:c.688+2752A>G	NP_001364452.1:n.688+2752A>G
NM_001377948.1:c.827A>G	NP_001364877.1:p.Gln276Arg
NM_001377949.1:c.796+31A>G	NP_001364878.1:n.796+31A>G
NM_001377950.1:c.688+2752A>G	NP_001364879.1:n.688+2752A>G
NM_001377951.1:c.190+2752A>G	NP_001364880.1:n.190+2752A>G
NM_020366.4:c.1901A>G MANE Select	NP_065099.3:p.Gln634Arg