Canonical Allele Identifier: CA7089338

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21327637A>G , CM000676.2:g.21327637A>G	GRCh38
NC_000014.8:g.21795796A>G , CM000676.1:g.21795796A>G	GRCh37
NC_000014.7:g.20865636A>G	NCBI36
NG_008933.1:g.44661A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.2725A>G MANE Select	NP_065099.3:p.Thr909Ala
ENST00000400017.7:c.2725A>G MANE Select	ENSP00000382895.2:p.Thr909Ala
NM_001377523.1:c.703A>G	NP_001364452.1:p.Thr235Ala
NM_001377948.1:c.1651A>G	NP_001364877.1:p.Thr551Ala
NM_001377949.1:c.811A>G	NP_001364878.1:p.Thr271Ala
NM_001377950.1:c.703A>G	NP_001364879.1:p.Thr235Ala
NM_001377951.1:c.205A>G	NP_001364880.1:p.Thr69Ala
NM_020366.3:c.2725A>G	NP_065099.3:p.Thr909Ala
ENST00000382933.8:c.703A>G	ENSP00000372391.4:p.Thr235Ala
ENST00000400017.6:c.2725A>G	ENSP00000382895.2:p.Thr909Ala
ENST00000553927.1:n.1657A>G
ENST00000555322.5:c.1152A>G
ENST00000555489.5:c.918A>G	ENSP00000451044.1:n.918A>G
ENST00000555587.5:c.1150A>G	ENSP00000451262.1:p.Thr384Ala
ENST00000556336.5:c.1696A>G	ENSP00000450445.1:p.Thr566Ala
ENST00000557771.5:c.2611A>G	ENSP00000451219.1:p.Thr871Ala
XM_005267879.2:c.1651A>G	XP_005267936.1:p.Thr551Ala
XM_005267880.2:c.1618A>G	XP_005267937.1:p.Thr540Ala
XM_005267881.2:c.1099A>G	XP_005267938.1:p.Thr367Ala
XM_005267881.3:c.1099A>G	XP_005267938.1:p.Thr367Ala
XM_011536978.1:c.1651A>G	XP_011535280.1:p.Thr551Ala
XM_011536979.1:c.1435A>G	XP_011535281.1:p.Thr479Ala
XM_011536980.1:c.1306A>G	XP_011535282.1:p.Thr436Ala
XM_011536981.1:c.1156A>G	XP_011535283.1:p.Thr386Ala
XM_011536982.1:c.811A>G	XP_011535284.1:p.Thr271Ala
XM_011536983.1:c.2692A>G	XP_011535285.1:p.Thr898Ala
XM_017021473.1:c.1156A>G	XP_016876962.1:p.Thr386Ala
XM_024449663.1:c.1651A>G	XP_024305431.1:p.Thr551Ala
XM_024449664.1:c.1156A>G	XP_024305432.1:p.Thr386Ala
XM_024449665.1:c.811A>G	XP_024305433.1:p.Thr271Ala
XM_024449666.1:c.811A>G	XP_024305434.1:p.Thr271Ala