Canonical Allele Identifier: CA257536142

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21326125C>T , CM000676.2:g.21326125C>T	GRCh38
NC_000014.8:g.21794284C>T , CM000676.1:g.21794284C>T	GRCh37
NC_000014.7:g.20864124C>T	NCBI36
NG_008933.1:g.43149C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2662C>T MANE Select	NP_065099.3:p.Arg888Ter
ENST00000400017.7:c.2662C>T MANE Select	ENSP00000382895.2:p.Arg888Ter
NM_001377523.1:c.689-1498C>T	NP_001364452.1:n.689-1498C>T
NM_001377948.1:c.1588C>T	NP_001364877.1:p.Arg530Ter
NM_001377949.1:c.796+1400C>T	NP_001364878.1:n.796+1400C>T
NM_001377950.1:c.689-1498C>T	NP_001364879.1:n.689-1498C>T
NM_001377951.1:c.191-1498C>T	NP_001364880.1:n.191-1498C>T
NM_020366.3:c.2662C>T	NP_065099.3:p.Arg888Ter
ENST00000382933.8:c.689-1498C>T	ENSP00000372391.4:n.689-1498C>T
ENST00000400017.6:c.2662C>T	ENSP00000382895.2:p.Arg888Ter
ENST00000553927.1:n.1594C>T
ENST00000555322.5:c.1089C>T
ENST00000555489.5:c.855C>T	ENSP00000451044.1:n.855C>T
ENST00000555587.5:c.1087C>T	ENSP00000451262.1:p.Arg363Ter
ENST00000556336.5:c.1682-1498C>T	ENSP00000450445.1:n.1682-1498C>T
ENST00000557771.5:c.2548C>T	ENSP00000451219.1:p.Arg850Ter
XM_005267879.2:c.1588C>T	XP_005267936.1:p.Arg530Ter
XM_005267880.2:c.1555C>T	XP_005267937.1:p.Arg519Ter
XM_005267881.2:c.1036C>T	XP_005267938.1:p.Arg346Ter
XM_005267881.3:c.1036C>T	XP_005267938.1:p.Arg346Ter
XM_011536978.1:c.1588C>T	XP_011535280.1:p.Arg530Ter
XM_011536979.1:c.1372C>T	XP_011535281.1:p.Arg458Ter
XM_011536980.1:c.1243C>T	XP_011535282.1:p.Arg415Ter
XM_011536981.1:c.1141+1055C>T	XP_011535283.1:n.1141+1055C>T
XM_011536982.1:c.796+1400C>T	XP_011535284.1:n.796+1400C>T
XM_011536983.1:c.2629C>T	XP_011535285.1:p.Arg877Ter
XM_017021473.1:c.1141+1055C>T	XP_016876962.1:n.1141+1055C>T
XM_024449663.1:c.1588C>T	XP_024305431.1:p.Arg530Ter
XM_024449664.1:c.1141+1055C>T	XP_024305432.1:n.1141+1055C>T
XM_024449665.1:c.796+1400C>T	XP_024305433.1:n.796+1400C>T
XM_024449666.1:c.796+1400C>T	XP_024305434.1:n.796+1400C>T