Canonical Allele Identifier: CA388870957

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21328463C>T , CM000676.2:g.21328463C>T	GRCh38
NC_000014.8:g.21796622C>T , CM000676.1:g.21796622C>T	GRCh37
NC_000014.7:g.20866462C>T	NCBI36
NG_008933.1:g.45487C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2935C>T MANE Select	NP_065099.3:p.Gln979Ter
ENST00000400017.7:c.2935C>T MANE Select	ENSP00000382895.2:p.Gln979Ter
NM_001377523.1:c.913C>T	NP_001364452.1:p.Gln305Ter
NM_001377948.1:c.1861C>T	NP_001364877.1:p.Gln621Ter
NM_001377949.1:c.1021C>T	NP_001364878.1:p.Gln341Ter
NM_001377950.1:c.913C>T	NP_001364879.1:p.Gln305Ter
NM_001377951.1:c.415C>T	NP_001364880.1:p.Gln139Ter
NM_020366.3:c.2935C>T	NP_065099.3:p.Gln979Ter
ENST00000382933.8:c.913C>T	ENSP00000372391.4:p.Gln305Ter
ENST00000400017.6:c.2935C>T	ENSP00000382895.2:p.Gln979Ter
ENST00000553927.1:n.1867C>T
ENST00000555322.5:c.1362C>T
ENST00000555489.5:c.1128C>T	ENSP00000451044.1:n.1128C>T
ENST00000555587.5:c.1360C>T	ENSP00000451262.1:p.Gln454Ter
ENST00000556336.5:c.1906C>T	ENSP00000450445.1:p.Gln636Ter
ENST00000557771.5:c.2821C>T	ENSP00000451219.1:p.Gln941Ter
XM_005267879.2:c.1861C>T	XP_005267936.1:p.Gln621Ter
XM_005267880.2:c.1828C>T	XP_005267937.1:p.Gln610Ter
XM_005267881.2:c.1309C>T	XP_005267938.1:p.Gln437Ter
XM_005267881.3:c.1309C>T	XP_005267938.1:p.Gln437Ter
XM_011536978.1:c.1861C>T	XP_011535280.1:p.Gln621Ter
XM_011536979.1:c.1645C>T	XP_011535281.1:p.Gln549Ter
XM_011536980.1:c.1516C>T	XP_011535282.1:p.Gln506Ter
XM_011536981.1:c.1366C>T	XP_011535283.1:p.Gln456Ter
XM_011536982.1:c.1021C>T	XP_011535284.1:p.Gln341Ter
XM_011536983.1:c.2902C>T	XP_011535285.1:p.Gln968Ter
XM_017021473.1:c.1366C>T	XP_016876962.1:p.Gln456Ter
XM_024449663.1:c.1861C>T	XP_024305431.1:p.Gln621Ter
XM_024449664.1:c.1366C>T	XP_024305432.1:p.Gln456Ter
XM_024449665.1:c.1021C>T	XP_024305433.1:p.Gln341Ter
XM_024449666.1:c.1021C>T	XP_024305434.1:p.Gln341Ter