Canonical Allele Identifier: CA148760

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53619093G>C , CM000678.2:g.53619093G>C	GRCh38
NC_000016.9:g.53653005G>C , CM000678.1:g.53653005G>C	GRCh37
NC_000016.8:g.52210506G>C	NCBI36
NG_008991.2:g.89767C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.3548C>G MANE Select	NP_056087.2:p.Ala1183Gly
ENST00000647211.2:c.3548C>G MANE Select	ENSP00000493946.1:p.Ala1183Gly
NM_001127897.1:c.3308C>G	NP_001121369.1:p.Ala1103Gly
NM_001127897.2:c.3308C>G	NP_001121369.1:p.Ala1103Gly
NM_001127897.3:c.3308C>G	NP_001121369.1:p.Ala1103Gly
NM_001127897.4:c.3308C>G	NP_001121369.1:p.Ala1103Gly
NM_001308334.1:c.3410C>G	NP_001295263.1:p.Ala1137Gly
NM_001308334.2:c.3410C>G	NP_001295263.1:p.Ala1137Gly
NM_001308334.3:c.3410C>G	NP_001295263.1:p.Ala1137Gly
NM_001330538.1:c.3446C>G	NP_001317467.1:p.Ala1149Gly
NM_001330538.2:c.3446C>G	NP_001317467.1:p.Ala1149Gly
NM_015272.2:c.3548C>G	NP_056087.2:p.Ala1183Gly
NM_015272.3:c.3548C>G	NP_056087.2:p.Ala1183Gly
NM_015272.4:c.3548C>G	NP_056087.2:p.Ala1183Gly
ENST00000262135.8:c.3308C>G	ENSP00000262135.4:p.Ala1103Gly
ENST00000262135.9:c.3308C>G	ENSP00000262135.4:p.Ala1103Gly
ENST00000379925.7:c.3548C>G	ENSP00000369257.3:p.Ala1183Gly
ENST00000563746.5:c.3446C>G	ENSP00000457889.1:p.Ala1149Gly
ENST00000564374.5:c.3410C>G	ENSP00000456534.1:p.Ala1137Gly
ENST00000565343.2:n.3972C>G
ENST00000621565.4:c.3410C>G	ENSP00000480698.1:p.Ala1137Gly
ENST00000621565.5:c.3410C>G	ENSP00000480698.1:p.Ala1137Gly
ENST00000680193.1:c.*308C>G	ENSP00000506379.1:n.*308C>G
ENST00000681587.1:n.1320C>G
XM_005255867.1:c.3446C>G	XP_005255924.1:p.Ala1149Gly
XM_005255868.1:c.3422C>G	XP_005255925.1:p.Ala1141Gly
XM_005255868.2:c.3422C>G	XP_005255925.1:p.Ala1141Gly
XM_005255871.2:c.1655C>G	XP_005255928.1:p.Ala552Gly
XM_011522968.1:c.3548C>G	XP_011521270.1:p.Ala1183Gly
XM_011522969.1:c.3422C>G	XP_011521271.1:p.Ala1141Gly
XM_011522974.1:c.1655C>G	XP_011521276.1:p.Ala552Gly
XM_017023094.2:c.3560C>G	XP_016878583.1:p.Ala1187Gly
XM_017023095.2:c.3320C>G	XP_016878584.1:p.Ala1107Gly
XM_017023096.2:c.3422C>G	XP_016878585.1:p.Ala1141Gly
XM_017023098.1:c.1793C>G	XP_016878587.1:p.Ala598Gly
XM_017023099.1:c.1793C>G	XP_016878588.1:p.Ala598Gly
XR_933260.1:n.3454C>G
XR_933260.3:n.3465C>G