Canonical Allele Identifier: CA7089115

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 834237
• ClinVar RCV Id: RCV001034879 ; RCV001074229 ; RCV001800938 ; RCV001800939
• dbSNP Id: rs535922252
• ExAC: 14:21792906 A / G
• gnomAD v2: 14-21792906-A-G
• gnomAD v3: 14-21324747-A-G
• gnomAD v4: 14-21324747-A-G
• MyVariant Identifiers: chr14:g.21792906A>G (hg19) ; chr14:g.21324747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324747A>G , CM000676.2:g.21324747A>G	GRCh38
NC_000014.8:g.21792906A>G , CM000676.1:g.21792906A>G	GRCh37
NC_000014.7:g.20862746A>G	NCBI36
NG_008933.1:g.41771A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400017.7:c.1892A>G MANE Select	ENSP00000382895.2:p.His631Arg
ENST00000382933.8:c.688+2743A>G	ENSP00000372391.4:n.688+2743A>G
ENST00000400017.6:c.1892A>G	ENSP00000382895.2:p.His631Arg
ENST00000553500.5:n.328+22A>G
ENST00000553927.1:n.824A>G
ENST00000554303.1:c.278A>G	ENSP00000450426.1:p.His93Arg
ENST00000555322.5:c.319A>G
ENST00000555489.5:c.212+22A>G	ENSP00000451044.1:n.212+22A>G
ENST00000555587.5:c.317A>G	ENSP00000451262.1:p.His106Arg
ENST00000556336.5:c.1681+2743A>G	ENSP00000450445.1:n.1681+2743A>G
ENST00000557771.5:c.1778A>G	ENSP00000451219.1:p.His593Arg
NM_020366.3:c.1892A>G	NP_065099.3:p.His631Arg
XM_005267879.2:c.818A>G	XP_005267936.1:p.His273Arg
XM_005267880.2:c.785A>G	XP_005267937.1:p.His262Arg
XM_005267881.2:c.266A>G	XP_005267938.1:p.His89Arg
XM_011536978.1:c.818A>G	XP_011535280.1:p.His273Arg
XM_011536979.1:c.796+22A>G	XP_011535281.1:n.796+22A>G
XM_011536980.1:c.796+22A>G	XP_011535282.1:n.796+22A>G
XM_011536981.1:c.818A>G	XP_011535283.1:p.His273Arg
XM_011536982.1:c.796+22A>G	XP_011535284.1:n.796+22A>G
XM_011536983.1:c.1859A>G	XP_011535285.1:p.His620Arg
XM_005267881.3:c.266A>G	XP_005267938.1:p.His89Arg
XM_017021473.1:c.818A>G	XP_016876962.1:p.His273Arg
XM_024449663.1:c.818A>G	XP_024305431.1:p.His273Arg
XM_024449664.1:c.818A>G	XP_024305432.1:p.His273Arg
XM_024449665.1:c.796+22A>G	XP_024305433.1:n.796+22A>G
XM_024449666.1:c.796+22A>G	XP_024305434.1:n.796+22A>G
NM_001377523.1:c.688+2743A>G	NP_001364452.1:n.688+2743A>G
NM_001377948.1:c.818A>G	NP_001364877.1:p.His273Arg
NM_001377949.1:c.796+22A>G	NP_001364878.1:n.796+22A>G
NM_001377950.1:c.688+2743A>G	NP_001364879.1:n.688+2743A>G
NM_001377951.1:c.190+2743A>G	NP_001364880.1:n.190+2743A>G
NM_020366.4:c.1892A>G MANE Select	NP_065099.3:p.His631Arg