Canonical Allele Identifier: CA7089120

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs756105202
• ExAC: 14:21792925 G / A
• gnomAD v2: 14-21792925-G-A
• gnomAD v4: 14-21324766-G-A
• MyVariant Identifiers: chr14:g.21792925G>A (hg19) ; chr14:g.21324766G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324766G>A , CM000676.2:g.21324766G>A	GRCh38
NC_000014.8:g.21792925G>A , CM000676.1:g.21792925G>A	GRCh37
NC_000014.7:g.20862765G>A	NCBI36
NG_008933.1:g.41790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1911G>A MANE Select	ENSP00000382895.2:p.Leu637=
ENST00000382933.8:c.688+2762G>A	ENSP00000372391.4:n.688+2762G>A
ENST00000400017.6:c.1911G>A	ENSP00000382895.2:p.Leu637=
ENST00000553500.5:n.328+41G>A
ENST00000553927.1:n.843G>A
ENST00000554303.1:c.297G>A	ENSP00000450426.1:p.Leu99=
ENST00000555322.5:c.338G>A
ENST00000555489.5:c.212+41G>A	ENSP00000451044.1:n.212+41G>A
ENST00000555587.5:c.336G>A	ENSP00000451262.1:p.Leu112=
ENST00000556336.5:c.1681+2762G>A	ENSP00000450445.1:n.1681+2762G>A
ENST00000557771.5:c.1797G>A	ENSP00000451219.1:p.Leu599=
NM_020366.3:c.1911G>A	NP_065099.3:p.Leu637=
XM_005267879.2:c.837G>A	XP_005267936.1:p.Leu279=
XM_005267880.2:c.804G>A	XP_005267937.1:p.Leu268=
XM_005267881.2:c.285G>A	XP_005267938.1:p.Leu95=
XM_011536978.1:c.837G>A	XP_011535280.1:p.Leu279=
XM_011536979.1:c.796+41G>A	XP_011535281.1:n.796+41G>A
XM_011536980.1:c.796+41G>A	XP_011535282.1:n.796+41G>A
XM_011536981.1:c.837G>A	XP_011535283.1:p.Leu279=
XM_011536982.1:c.796+41G>A	XP_011535284.1:n.796+41G>A
XM_011536983.1:c.1878G>A	XP_011535285.1:p.Leu626=
XM_005267881.3:c.285G>A	XP_005267938.1:p.Leu95=
XM_017021473.1:c.837G>A	XP_016876962.1:p.Leu279=
XM_024449663.1:c.837G>A	XP_024305431.1:p.Leu279=
XM_024449664.1:c.837G>A	XP_024305432.1:p.Leu279=
XM_024449665.1:c.796+41G>A	XP_024305433.1:n.796+41G>A
XM_024449666.1:c.796+41G>A	XP_024305434.1:n.796+41G>A
NM_001377523.1:c.688+2762G>A	NP_001364452.1:n.688+2762G>A
NM_001377948.1:c.837G>A	NP_001364877.1:p.Leu279=
NM_001377949.1:c.796+41G>A	NP_001364878.1:n.796+41G>A
NM_001377950.1:c.688+2762G>A	NP_001364879.1:n.688+2762G>A
NM_001377951.1:c.190+2762G>A	NP_001364880.1:n.190+2762G>A
NM_020366.4:c.1911G>A MANE Select	NP_065099.3:p.Leu637=