Canonical Allele Identifier: CA7089126

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs758512410
• ExAC: 14:21792951 G / A
• gnomAD v2: 14-21792951-G-A
• gnomAD v4: 14-21324792-G-A
• MyVariant Identifiers: chr14:g.21792951G>A (hg19) ; chr14:g.21324792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324792G>A , CM000676.2:g.21324792G>A	GRCh38
NC_000014.8:g.21792951G>A , CM000676.1:g.21792951G>A	GRCh37
NC_000014.7:g.20862791G>A	NCBI36
NG_008933.1:g.41816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1937G>A MANE Select	ENSP00000382895.2:p.Gly646Glu
ENST00000382933.8:c.688+2788G>A	ENSP00000372391.4:n.688+2788G>A
ENST00000400017.6:c.1937G>A	ENSP00000382895.2:p.Gly646Glu
ENST00000553500.5:n.328+67G>A
ENST00000553927.1:n.869G>A
ENST00000554303.1:c.323G>A	ENSP00000450426.1:p.Gly108Glu
ENST00000555322.5:c.364G>A
ENST00000555489.5:c.212+67G>A	ENSP00000451044.1:n.212+67G>A
ENST00000555587.5:c.362G>A	ENSP00000451262.1:p.Gly121Glu
ENST00000556336.5:c.1681+2788G>A	ENSP00000450445.1:n.1681+2788G>A
ENST00000557771.5:c.1823G>A	ENSP00000451219.1:p.Gly608Glu
NM_020366.3:c.1937G>A	NP_065099.3:p.Gly646Glu
XM_005267879.2:c.863G>A	XP_005267936.1:p.Gly288Glu
XM_005267880.2:c.830G>A	XP_005267937.1:p.Gly277Glu
XM_005267881.2:c.311G>A	XP_005267938.1:p.Gly104Glu
XM_011536978.1:c.863G>A	XP_011535280.1:p.Gly288Glu
XM_011536979.1:c.796+67G>A	XP_011535281.1:n.796+67G>A
XM_011536980.1:c.796+67G>A	XP_011535282.1:n.796+67G>A
XM_011536981.1:c.863G>A	XP_011535283.1:p.Gly288Glu
XM_011536982.1:c.796+67G>A	XP_011535284.1:n.796+67G>A
XM_011536983.1:c.1904G>A	XP_011535285.1:p.Gly635Glu
XM_005267881.3:c.311G>A	XP_005267938.1:p.Gly104Glu
XM_017021473.1:c.863G>A	XP_016876962.1:p.Gly288Glu
XM_024449663.1:c.863G>A	XP_024305431.1:p.Gly288Glu
XM_024449664.1:c.863G>A	XP_024305432.1:p.Gly288Glu
XM_024449665.1:c.796+67G>A	XP_024305433.1:n.796+67G>A
XM_024449666.1:c.796+67G>A	XP_024305434.1:n.796+67G>A
NM_001377523.1:c.688+2788G>A	NP_001364452.1:n.688+2788G>A
NM_001377948.1:c.863G>A	NP_001364877.1:p.Gly288Glu
NM_001377949.1:c.796+67G>A	NP_001364878.1:n.796+67G>A
NM_001377950.1:c.688+2788G>A	NP_001364879.1:n.688+2788G>A
NM_001377951.1:c.190+2788G>A	NP_001364880.1:n.190+2788G>A
NM_020366.4:c.1937G>A MANE Select	NP_065099.3:p.Gly646Glu