Canonical Allele Identifier: CA257536134

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21325931A>G , CM000676.2:g.21325931A>G	GRCh38
NC_000014.8:g.21794090A>G , CM000676.1:g.21794090A>G	GRCh37
NC_000014.7:g.20863930A>G	NCBI36
NG_008933.1:g.42955A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2468A>G MANE Select	NP_065099.3:p.Tyr823Cys
ENST00000400017.7:c.2468A>G MANE Select	ENSP00000382895.2:p.Tyr823Cys
NM_001377523.1:c.689-1692A>G	NP_001364452.1:n.689-1692A>G
NM_001377948.1:c.1394A>G	NP_001364877.1:p.Tyr465Cys
NM_001377949.1:c.796+1206A>G	NP_001364878.1:n.796+1206A>G
NM_001377950.1:c.689-1692A>G	NP_001364879.1:n.689-1692A>G
NM_001377951.1:c.191-1692A>G	NP_001364880.1:n.191-1692A>G
NM_020366.3:c.2468A>G	NP_065099.3:p.Tyr823Cys
ENST00000382933.8:c.689-1692A>G	ENSP00000372391.4:n.689-1692A>G
ENST00000400017.6:c.2468A>G	ENSP00000382895.2:p.Tyr823Cys
ENST00000553927.1:n.1400A>G
ENST00000555322.5:c.895A>G
ENST00000555489.5:c.661A>G	ENSP00000451044.1:n.661A>G
ENST00000555587.5:c.893A>G	ENSP00000451262.1:p.Tyr298Cys
ENST00000556336.5:c.1682-1692A>G	ENSP00000450445.1:n.1682-1692A>G
ENST00000557771.5:c.2354A>G	ENSP00000451219.1:p.Tyr785Cys
XM_005267879.2:c.1394A>G	XP_005267936.1:p.Tyr465Cys
XM_005267880.2:c.1361A>G	XP_005267937.1:p.Tyr454Cys
XM_005267881.2:c.842A>G	XP_005267938.1:p.Tyr281Cys
XM_005267881.3:c.842A>G	XP_005267938.1:p.Tyr281Cys
XM_011536978.1:c.1394A>G	XP_011535280.1:p.Tyr465Cys
XM_011536979.1:c.1178A>G	XP_011535281.1:p.Tyr393Cys
XM_011536980.1:c.1049A>G	XP_011535282.1:p.Tyr350Cys
XM_011536981.1:c.1141+861A>G	XP_011535283.1:n.1141+861A>G
XM_011536982.1:c.796+1206A>G	XP_011535284.1:n.796+1206A>G
XM_011536983.1:c.2435A>G	XP_011535285.1:p.Tyr812Cys
XM_017021473.1:c.1141+861A>G	XP_016876962.1:n.1141+861A>G
XM_024449663.1:c.1394A>G	XP_024305431.1:p.Tyr465Cys
XM_024449664.1:c.1141+861A>G	XP_024305432.1:n.1141+861A>G
XM_024449665.1:c.796+1206A>G	XP_024305433.1:n.796+1206A>G
XM_024449666.1:c.796+1206A>G	XP_024305434.1:n.796+1206A>G