Canonical Allele Identifier: CA257536560

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21330248G>A , CM000676.2:g.21330248G>A	GRCh38
NC_000014.8:g.21798407G>A , CM000676.1:g.21798407G>A	GRCh37
NC_000014.7:g.20868247G>A	NCBI36
NG_008933.1:g.47272G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.3100-1G>A MANE Select	NP_065099.3:n.3100-1G>A
ENST00000400017.7:c.3100-1G>A MANE Select	ENSP00000382895.2:n.3100-1G>A
NM_001377523.1:c.1078-1G>A	NP_001364452.1:n.1078-1G>A
NM_001377948.1:c.2026-1G>A	NP_001364877.1:n.2026-1G>A
NM_001377949.1:c.1186-1G>A	NP_001364878.1:n.1186-1G>A
NM_001377950.1:c.1078-4G>A	NP_001364879.1:n.1078-4G>A
NM_001377951.1:c.580-1G>A	NP_001364880.1:n.580-1G>A
NM_020366.3:c.3100-1G>A	NP_065099.3:n.3100-1G>A
ENST00000382933.8:c.1078-1G>A	ENSP00000372391.4:n.1078-1G>A
ENST00000400017.6:c.3100-1G>A	ENSP00000382895.2:n.3100-1G>A
ENST00000553927.1:n.2032-1G>A
ENST00000555322.5:c.1527-1G>A
ENST00000555489.5:c.1293-1G>A	ENSP00000451044.1:n.1293-1G>A
ENST00000555587.5:c.1525-1G>A	ENSP00000451262.1:n.1525-1G>A
ENST00000556336.5:c.2071-1G>A	ENSP00000450445.1:n.2071-1G>A
ENST00000557606.1:c.30-1G>A
ENST00000557771.5:c.2986-1G>A	ENSP00000451219.1:n.2986-1G>A
XM_005267879.2:c.2026-1G>A	XP_005267936.1:n.2026-1G>A
XM_005267880.2:c.1993-1G>A	XP_005267937.1:n.1993-1G>A
XM_005267881.2:c.1474-1G>A	XP_005267938.1:n.1474-1G>A
XM_005267881.3:c.1474-1G>A	XP_005267938.1:n.1474-1G>A
XM_011536978.1:c.2026-4G>A	XP_011535280.1:n.2026-4G>A
XM_011536979.1:c.1810-1G>A	XP_011535281.1:n.1810-1G>A
XM_011536980.1:c.1681-1G>A	XP_011535282.1:n.1681-1G>A
XM_011536981.1:c.1531-1G>A	XP_011535283.1:n.1531-1G>A
XM_011536982.1:c.1186-1G>A	XP_011535284.1:n.1186-1G>A
XM_011536983.1:c.3067-1G>A	XP_011535285.1:n.3067-1G>A
XM_017021473.1:c.1531-4G>A	XP_016876962.1:n.1531-4G>A
XM_024449663.1:c.2026-4G>A	XP_024305431.1:n.2026-4G>A
XM_024449664.1:c.1531-4G>A	XP_024305432.1:n.1531-4G>A
XM_024449665.1:c.1186-1G>A	XP_024305433.1:n.1186-1G>A
XM_024449666.1:c.1186-4G>A	XP_024305434.1:n.1186-4G>A