Canonical Allele Identifier: CA7089589

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21348273G>A , CM000676.2:g.21348273G>A	GRCh38
NC_000014.8:g.21816432G>A , CM000676.1:g.21816432G>A	GRCh37
NC_000014.7:g.20886272G>A	NCBI36
NG_008933.1:g.65297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.3719G>A MANE Select	ENSP00000382895.2:p.Gly1240Glu
ENST00000382933.8:c.1697G>A	ENSP00000372391.4:p.Gly566Glu
ENST00000400017.6:c.3719G>A	ENSP00000382895.2:p.Gly1240Glu
ENST00000553927.1:n.2651G>A
ENST00000555322.5:c.2146G>A
ENST00000555489.5:c.1912G>A	ENSP00000451044.1:n.1912G>A
ENST00000555587.5:c.2144G>A	ENSP00000451262.1:p.Gly715Glu
ENST00000556336.5:c.2690G>A	ENSP00000450445.1:p.Gly897Glu
ENST00000557771.5:c.3605G>A	ENSP00000451219.1:p.Gly1202Glu
NM_020366.3:c.3719G>A	NP_065099.3:p.Gly1240Glu
XM_005267879.2:c.2648G>A	XP_005267936.1:p.Gly883Glu
XM_005267880.2:c.2615G>A	XP_005267937.1:p.Gly872Glu
XM_005267881.2:c.2096G>A	XP_005267938.1:p.Gly699Glu
XM_011536978.1:c.2645G>A	XP_011535280.1:p.Gly882Glu
XM_011536979.1:c.2432G>A	XP_011535281.1:p.Gly811Glu
XM_011536980.1:c.2303G>A	XP_011535282.1:p.Gly768Glu
XM_011536981.1:c.2153G>A	XP_011535283.1:p.Gly718Glu
XM_011536982.1:c.1808G>A	XP_011535284.1:p.Gly603Glu
XM_011536983.1:c.3686G>A	XP_011535285.1:p.Gly1229Glu
XM_005267881.3:c.2096G>A	XP_005267938.1:p.Gly699Glu
XM_017021473.1:c.2150G>A	XP_016876962.1:p.Gly717Glu
XM_024449663.1:c.2642G>A	XP_024305431.1:p.Gly881Glu
XM_024449664.1:c.2147G>A	XP_024305432.1:p.Gly716Glu
XM_024449665.1:c.1805G>A	XP_024305433.1:p.Gly602Glu
XM_024449666.1:c.1802G>A	XP_024305434.1:p.Gly601Glu
NM_001377523.1:c.1697G>A	NP_001364452.1:p.Gly566Glu
NM_001377948.1:c.2645G>A	NP_001364877.1:p.Gly882Glu
NM_001377949.1:c.1805G>A	NP_001364878.1:p.Gly602Glu
NM_001377950.1:c.1697G>A	NP_001364879.1:p.Gly566Glu
NM_001377951.1:c.1202G>A	NP_001364880.1:p.Gly401Glu
NM_020366.4:c.3719G>A MANE Select	NP_065099.3:p.Gly1240Glu