Canonical Allele Identifier: CA7089566

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21345198G>T , CM000676.2:g.21345198G>T	GRCh38
NC_000014.8:g.21813357G>T , CM000676.1:g.21813357G>T	GRCh37
NC_000014.7:g.20883197G>T	NCBI36
NG_008933.1:g.62222G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.3617+1G>T MANE Select	NP_065099.3:n.3617+1G>T
ENST00000400017.7:c.3617+1G>T MANE Select	ENSP00000382895.2:n.3617+1G>T
NM_001377523.1:c.1595+1G>T	NP_001364452.1:n.1595+1G>T
NM_001377948.1:c.2543+1G>T	NP_001364877.1:n.2543+1G>T
NM_001377949.1:c.1703+1G>T	NP_001364878.1:n.1703+1G>T
NM_001377950.1:c.1595+1G>T	NP_001364879.1:n.1595+1G>T
NM_001377951.1:c.1100+1G>T	NP_001364880.1:n.1100+1G>T
NM_020366.3:c.3617+1G>T	NP_065099.3:n.3617+1G>T
ENST00000382933.8:c.1595+1G>T	ENSP00000372391.4:n.1595+1G>T
ENST00000400017.6:c.3617+1G>T	ENSP00000382895.2:n.3617+1G>T
ENST00000553927.1:n.2549+1G>T
ENST00000555322.5:c.2044+1G>T
ENST00000555489.5:c.1810+1G>T	ENSP00000451044.1:n.1810+1G>T
ENST00000555587.5:c.2042+1G>T	ENSP00000451262.1:n.2042+1G>T
ENST00000556336.5:c.2588+1G>T	ENSP00000450445.1:n.2588+1G>T
ENST00000557771.5:c.3503+1G>T	ENSP00000451219.1:n.3503+1G>T
XM_005267879.2:c.2546+1G>T	XP_005267936.1:n.2546+1G>T
XM_005267880.2:c.2513+1G>T	XP_005267937.1:n.2513+1G>T
XM_005267881.2:c.1994+1G>T	XP_005267938.1:n.1994+1G>T
XM_005267881.3:c.1994+1G>T	XP_005267938.1:n.1994+1G>T
XM_011536978.1:c.2543+1G>T	XP_011535280.1:n.2543+1G>T
XM_011536979.1:c.2330+1G>T	XP_011535281.1:n.2330+1G>T
XM_011536980.1:c.2201+1G>T	XP_011535282.1:n.2201+1G>T
XM_011536981.1:c.2051+1G>T	XP_011535283.1:n.2051+1G>T
XM_011536982.1:c.1706+1G>T	XP_011535284.1:n.1706+1G>T
XM_011536983.1:c.3584+1G>T	XP_011535285.1:n.3584+1G>T
XM_017021473.1:c.2048+1G>T	XP_016876962.1:n.2048+1G>T
XM_024449663.1:c.2540+1G>T	XP_024305431.1:n.2540+1G>T
XM_024449664.1:c.2045+1G>T	XP_024305432.1:n.2045+1G>T
XM_024449665.1:c.1703+1G>T	XP_024305433.1:n.1703+1G>T
XM_024449666.1:c.1700+1G>T	XP_024305434.1:n.1700+1G>T