Canonical Allele Identifier: CA388868454

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21325265A>G , CM000676.2:g.21325265A>G	GRCh38
NC_000014.8:g.21793424A>G , CM000676.1:g.21793424A>G	GRCh37
NC_000014.7:g.20863264A>G	NCBI36
NG_008933.1:g.42289A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2249A>G MANE Select	NP_065099.3:p.Tyr750Cys
ENST00000400017.7:c.2249A>G MANE Select	ENSP00000382895.2:p.Tyr750Cys
NM_001377523.1:c.689-2358A>G	NP_001364452.1:n.689-2358A>G
NM_001377948.1:c.1175A>G	NP_001364877.1:p.Tyr392Cys
NM_001377949.1:c.796+540A>G	NP_001364878.1:n.796+540A>G
NM_001377950.1:c.689-2358A>G	NP_001364879.1:n.689-2358A>G
NM_001377951.1:c.191-2358A>G	NP_001364880.1:n.191-2358A>G
NM_020366.3:c.2249A>G	NP_065099.3:p.Tyr750Cys
ENST00000382933.8:c.689-2358A>G	ENSP00000372391.4:n.689-2358A>G
ENST00000400017.6:c.2249A>G	ENSP00000382895.2:p.Tyr750Cys
ENST00000553500.5:n.362A>G
ENST00000553927.1:n.1181A>G
ENST00000555322.5:c.676A>G
ENST00000555489.5:c.442A>G	ENSP00000451044.1:n.442A>G
ENST00000555587.5:c.674A>G	ENSP00000451262.1:p.Tyr225Cys
ENST00000556336.5:c.1682-2358A>G	ENSP00000450445.1:n.1682-2358A>G
ENST00000557771.5:c.2135A>G	ENSP00000451219.1:p.Tyr712Cys
XM_005267879.2:c.1175A>G	XP_005267936.1:p.Tyr392Cys
XM_005267880.2:c.1142A>G	XP_005267937.1:p.Tyr381Cys
XM_005267881.2:c.623A>G	XP_005267938.1:p.Tyr208Cys
XM_005267881.3:c.623A>G	XP_005267938.1:p.Tyr208Cys
XM_011536978.1:c.1175A>G	XP_011535280.1:p.Tyr392Cys
XM_011536979.1:c.959A>G	XP_011535281.1:p.Tyr320Cys
XM_011536980.1:c.830A>G	XP_011535282.1:p.Tyr277Cys
XM_011536981.1:c.1141+195A>G	XP_011535283.1:n.1141+195A>G
XM_011536982.1:c.796+540A>G	XP_011535284.1:n.796+540A>G
XM_011536983.1:c.2216A>G	XP_011535285.1:p.Tyr739Cys
XM_017021473.1:c.1141+195A>G	XP_016876962.1:n.1141+195A>G
XM_024449663.1:c.1175A>G	XP_024305431.1:p.Tyr392Cys
XM_024449664.1:c.1141+195A>G	XP_024305432.1:n.1141+195A>G
XM_024449665.1:c.796+540A>G	XP_024305433.1:n.796+540A>G
XM_024449666.1:c.796+540A>G	XP_024305434.1:n.796+540A>G