Canonical Allele Identifier: CA14052832

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21343471G>C , CM000676.2:g.21343471G>C	GRCh38
NC_000014.8:g.21811630G>C , CM000676.1:g.21811630G>C	GRCh37
NC_000014.7:g.20881470G>C	NCBI36
NG_008933.1:g.60495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.3532+243G>C MANE Select	ENSP00000382895.2:n.3532+243G>C
ENST00000382933.8:c.1510+243G>C	ENSP00000372391.4:n.1510+243G>C
ENST00000400017.6:c.3532+243G>C	ENSP00000382895.2:n.3532+243G>C
ENST00000553927.1:n.2464+243G>C
ENST00000555322.5:c.1959+243G>C
ENST00000555489.5:c.1725+243G>C	ENSP00000451044.1:n.1725+243G>C
ENST00000555587.5:c.1957+243G>C	ENSP00000451262.1:n.1957+243G>C
ENST00000556336.5:c.2503+243G>C	ENSP00000450445.1:n.2503+243G>C
ENST00000557771.5:c.3418+243G>C	ENSP00000451219.1:n.3418+243G>C
NM_020366.3:c.3532+243G>C	NP_065099.3:n.3532+243G>C
XM_005267879.2:c.2461+243G>C	XP_005267936.1:n.2461+243G>C
XM_005267880.2:c.2428+243G>C	XP_005267937.1:n.2428+243G>C
XM_005267881.2:c.1909+243G>C	XP_005267938.1:n.1909+243G>C
XM_011536978.1:c.2458+243G>C	XP_011535280.1:n.2458+243G>C
XM_011536979.1:c.2245+243G>C	XP_011535281.1:n.2245+243G>C
XM_011536980.1:c.2116+243G>C	XP_011535282.1:n.2116+243G>C
XM_011536981.1:c.1966+243G>C	XP_011535283.1:n.1966+243G>C
XM_011536982.1:c.1621+243G>C	XP_011535284.1:n.1621+243G>C
XM_011536983.1:c.3499+243G>C	XP_011535285.1:n.3499+243G>C
XM_005267881.3:c.1909+243G>C	XP_005267938.1:n.1909+243G>C
XM_017021473.1:c.1963+243G>C	XP_016876962.1:n.1963+243G>C
XM_024449663.1:c.2455+243G>C	XP_024305431.1:n.2455+243G>C
XM_024449664.1:c.1960+243G>C	XP_024305432.1:n.1960+243G>C
XM_024449665.1:c.1618+243G>C	XP_024305433.1:n.1618+243G>C
XM_024449666.1:c.1615+243G>C	XP_024305434.1:n.1615+243G>C
NM_001377523.1:c.1510+243G>C	NP_001364452.1:n.1510+243G>C
NM_001377948.1:c.2458+243G>C	NP_001364877.1:n.2458+243G>C
NM_001377949.1:c.1618+243G>C	NP_001364878.1:n.1618+243G>C
NM_001377950.1:c.1510+243G>C	NP_001364879.1:n.1510+243G>C
NM_001377951.1:c.1015+243G>C	NP_001364880.1:n.1015+243G>C
NM_020366.4:c.3532+243G>C MANE Select	NP_065099.3:n.3532+243G>C