Canonical Allele Identifier: CA7089133

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs773927990
• ExAC: 14:21792988 C / A
• gnomAD v2: 14-21792988-C-A
• gnomAD v3: 14-21324829-C-A
• gnomAD v4: 14-21324829-C-A
• MyVariant Identifiers: chr14:g.21792988C>A (hg19) ; chr14:g.21324829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324829C>A , CM000676.2:g.21324829C>A	GRCh38
NC_000014.8:g.21792988C>A , CM000676.1:g.21792988C>A	GRCh37
NC_000014.7:g.20862828C>A	NCBI36
NG_008933.1:g.41853C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1974C>A MANE Select	ENSP00000382895.2:p.Phe658Leu
ENST00000382933.8:c.689-2794C>A	ENSP00000372391.4:n.689-2794C>A
ENST00000400017.6:c.1974C>A	ENSP00000382895.2:p.Phe658Leu
ENST00000553500.5:n.328+104C>A
ENST00000553927.1:n.906C>A
ENST00000554303.1:c.360C>A	ENSP00000450426.1:p.Phe120Leu
ENST00000555322.5:c.401C>A
ENST00000555489.5:c.213-46C>A	ENSP00000451044.1:n.213-46C>A
ENST00000555587.5:c.399C>A	ENSP00000451262.1:p.Phe133Leu
ENST00000556336.5:c.1682-2794C>A	ENSP00000450445.1:n.1682-2794C>A
ENST00000557771.5:c.1860C>A	ENSP00000451219.1:p.Phe620Leu
NM_020366.3:c.1974C>A	NP_065099.3:p.Phe658Leu
XM_005267879.2:c.900C>A	XP_005267936.1:p.Phe300Leu
XM_005267880.2:c.867C>A	XP_005267937.1:p.Phe289Leu
XM_005267881.2:c.348C>A	XP_005267938.1:p.Phe116Leu
XM_011536978.1:c.900C>A	XP_011535280.1:p.Phe300Leu
XM_011536979.1:c.796+104C>A	XP_011535281.1:n.796+104C>A
XM_011536980.1:c.796+104C>A	XP_011535282.1:n.796+104C>A
XM_011536981.1:c.900C>A	XP_011535283.1:p.Phe300Leu
XM_011536982.1:c.796+104C>A	XP_011535284.1:n.796+104C>A
XM_011536983.1:c.1941C>A	XP_011535285.1:p.Phe647Leu
XM_005267881.3:c.348C>A	XP_005267938.1:p.Phe116Leu
XM_017021473.1:c.900C>A	XP_016876962.1:p.Phe300Leu
XM_024449663.1:c.900C>A	XP_024305431.1:p.Phe300Leu
XM_024449664.1:c.900C>A	XP_024305432.1:p.Phe300Leu
XM_024449665.1:c.796+104C>A	XP_024305433.1:n.796+104C>A
XM_024449666.1:c.796+104C>A	XP_024305434.1:n.796+104C>A
NM_001377523.1:c.689-2794C>A	NP_001364452.1:n.689-2794C>A
NM_001377948.1:c.900C>A	NP_001364877.1:p.Phe300Leu
NM_001377949.1:c.796+104C>A	NP_001364878.1:n.796+104C>A
NM_001377950.1:c.689-2794C>A	NP_001364879.1:n.689-2794C>A
NM_001377951.1:c.191-2794C>A	NP_001364880.1:n.191-2794C>A
NM_020366.4:c.1974C>A MANE Select	NP_065099.3:p.Phe658Leu