Canonical Allele Identifier: CA2122460305

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324808C= , CM000676.2:g.21324808C=	GRCh38
NC_000014.8:g.21792967C= , CM000676.1:g.21792967C=	GRCh37
NC_000014.7:g.20862807C=	NCBI36
NG_008933.1:g.41832C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1953C= MANE Select	ENSP00000382895.2:p.Thr651=
ENST00000382933.8:c.688+2804C=	ENSP00000372391.4:n.688+2804C=
ENST00000400017.6:c.1953C=	ENSP00000382895.2:p.Thr651=
ENST00000553500.5:n.328+83C=
ENST00000553927.1:n.885C=
ENST00000554303.1:c.339C=	ENSP00000450426.1:p.Thr113=
ENST00000555322.5:c.380C=
ENST00000555489.5:c.213-67C=	ENSP00000451044.1:n.213-67C=
ENST00000555587.5:c.378C=	ENSP00000451262.1:p.Thr126=
ENST00000556336.5:c.1681+2804C=	ENSP00000450445.1:n.1681+2804C=
ENST00000557771.5:c.1839C=	ENSP00000451219.1:p.Thr613=
NM_020366.3:c.1953C=	NP_065099.3:p.Thr651=
XM_005267879.2:c.879C=	XP_005267936.1:p.Thr293=
XM_005267880.2:c.846C=	XP_005267937.1:p.Thr282=
XM_005267881.2:c.327C=	XP_005267938.1:p.Thr109=
XM_011536978.1:c.879C=	XP_011535280.1:p.Thr293=
XM_011536979.1:c.796+83C=	XP_011535281.1:n.796+83C=
XM_011536980.1:c.796+83C=	XP_011535282.1:n.796+83C=
XM_011536981.1:c.879C=	XP_011535283.1:p.Thr293=
XM_011536982.1:c.796+83C=	XP_011535284.1:n.796+83C=
XM_011536983.1:c.1920C=	XP_011535285.1:p.Thr640=
XM_005267881.3:c.327C=	XP_005267938.1:p.Thr109=
XM_017021473.1:c.879C=	XP_016876962.1:p.Thr293=
XM_024449663.1:c.879C=	XP_024305431.1:p.Thr293=
XM_024449664.1:c.879C=	XP_024305432.1:p.Thr293=
XM_024449665.1:c.796+83C=	XP_024305433.1:n.796+83C=
XM_024449666.1:c.796+83C=	XP_024305434.1:n.796+83C=
NM_001377523.1:c.688+2804C=	NP_001364452.1:n.688+2804C=
NM_001377948.1:c.879C=	NP_001364877.1:p.Thr293=
NM_001377949.1:c.796+83C=	NP_001364878.1:n.796+83C=
NM_001377950.1:c.688+2804C=	NP_001364879.1:n.688+2804C=
NM_001377951.1:c.190+2804C=	NP_001364880.1:n.190+2804C=
NM_020366.4:c.1953C= MANE Select	NP_065099.3:p.Thr651=