Canonical Allele Identifier: CA915948862

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21320996G>C , CM000676.2:g.21320996G>C	GRCh38
NC_000014.8:g.21789155G>C , CM000676.1:g.21789155G>C	GRCh37
NC_000014.7:g.20858995G>C	NCBI36
NG_008933.1:g.38020G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.1468-263G>C MANE Select	NP_065099.3:n.1468-263G>C
ENST00000400017.7:c.1468-263G>C MANE Select	ENSP00000382895.2:n.1468-263G>C
NM_001377523.1:c.394-263G>C	NP_001364452.1:n.394-263G>C
NM_001377948.1:c.394-263G>C	NP_001364877.1:n.394-263G>C
NM_001377949.1:c.394-263G>C	NP_001364878.1:n.394-263G>C
NM_001377950.1:c.394-263G>C	NP_001364879.1:n.394-263G>C
NM_001377951.1:c.-105-263G>C	NP_001364880.1:n.-105-263G>C
NM_020366.3:c.1468-263G>C	NP_065099.3:n.1468-263G>C
ENST00000382933.8:c.394-263G>C	ENSP00000372391.4:n.394-263G>C
ENST00000400017.6:c.1468-263G>C	ENSP00000382895.2:n.1468-263G>C
ENST00000553500.5:n.28-263G>C
ENST00000556336.5:c.1387-263G>C	ENSP00000450445.1:n.1387-263G>C
ENST00000557351.1:c.469-263G>C	ENSP00000452215.1:n.469-263G>C
ENST00000557771.5:c.1387-263G>C	ENSP00000451219.1:n.1387-263G>C
XM_005267879.2:c.394-263G>C	XP_005267936.1:n.394-263G>C
XM_005267880.2:c.394-263G>C	XP_005267937.1:n.394-263G>C
XM_011536978.1:c.394-263G>C	XP_011535280.1:n.394-263G>C
XM_011536979.1:c.394-263G>C	XP_011535281.1:n.394-263G>C
XM_011536980.1:c.394-263G>C	XP_011535282.1:n.394-263G>C
XM_011536981.1:c.394-263G>C	XP_011535283.1:n.394-263G>C
XM_011536982.1:c.394-263G>C	XP_011535284.1:n.394-263G>C
XM_011536983.1:c.1435-263G>C	XP_011535285.1:n.1435-263G>C
XM_017021473.1:c.394-263G>C	XP_016876962.1:n.394-263G>C
XM_024449663.1:c.394-263G>C	XP_024305431.1:n.394-263G>C
XM_024449664.1:c.394-263G>C	XP_024305432.1:n.394-263G>C
XM_024449665.1:c.394-263G>C	XP_024305433.1:n.394-263G>C
XM_024449666.1:c.394-263G>C	XP_024305434.1:n.394-263G>C