Canonical Allele Identifier: CA8058230

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53700650C>A , CM000678.2:g.53700650C>A	GRCh38
NC_000016.9:g.53734562C>A , CM000678.1:g.53734562C>A	GRCh37
NC_000016.8:g.52292063C>A	NCBI36
NG_008991.2:g.8210G>T
NG_012969.1:g.1688C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.74G>T MANE Select	NP_056087.2:p.Gly25Val
ENST00000647211.2:c.74G>T MANE Select	ENSP00000493946.1:p.Gly25Val
NM_001127897.1:c.74G>T	NP_001121369.1:p.Gly25Val
NM_001127897.2:c.74G>T	NP_001121369.1:p.Gly25Val
NM_001127897.3:c.74G>T	NP_001121369.1:p.Gly25Val
NM_001127897.4:c.74G>T	NP_001121369.1:p.Gly25Val
NM_001308334.1:c.74G>T	NP_001295263.1:p.Gly25Val
NM_001308334.2:c.74G>T	NP_001295263.1:p.Gly25Val
NM_001308334.3:c.74G>T	NP_001295263.1:p.Gly25Val
NM_001328422.1:c.74G>T	NP_001315351.1:p.Gly25Val
NM_001328422.2:c.74G>T	NP_001315351.1:p.Gly25Val
NM_001328423.1:c.74G>T	NP_001315352.1:p.Gly25Val
NM_001328423.2:c.74G>T	NP_001315352.1:p.Gly25Val
NM_001330538.1:c.74G>T	NP_001317467.1:p.Gly25Val
NM_001330538.2:c.74G>T	NP_001317467.1:p.Gly25Val
NM_015272.2:c.74G>T	NP_056087.2:p.Gly25Val
NM_015272.3:c.74G>T	NP_056087.2:p.Gly25Val
NM_015272.4:c.74G>T	NP_056087.2:p.Gly25Val
ENST00000262135.8:c.74G>T	ENSP00000262135.4:p.Gly25Val
ENST00000262135.9:c.74G>T	ENSP00000262135.4:p.Gly25Val
ENST00000379925.7:c.74G>T	ENSP00000369257.3:p.Gly25Val
ENST00000562230.5:c.74G>T	ENSP00000455295.1:p.Gly25Val
ENST00000562588.5:c.74G>T	ENSP00000459817.1:p.Gly25Val
ENST00000563746.5:c.74G>T	ENSP00000457889.1:p.Gly25Val
ENST00000564374.5:c.74G>T	ENSP00000456534.1:p.Gly25Val
ENST00000566096.5:c.74G>T	ENSP00000458705.1:p.Gly25Val
ENST00000568653.7:c.74G>T	ENSP00000455451.3:p.Gly25Val
ENST00000569716.1:c.74G>T	ENSP00000463678.1:p.Gly25Val
ENST00000621565.4:c.74G>T	ENSP00000480698.1:p.Gly25Val
ENST00000621565.5:c.74G>T	ENSP00000480698.1:p.Gly25Val
ENST00000679110.1:c.74G>T	ENSP00000502853.1:p.Gly25Val
ENST00000680193.1:c.74G>T	ENSP00000506379.1:p.Gly25Val
ENST00000680907.1:n.117G>T
XM_005255867.1:c.74G>T	XP_005255924.1:p.Gly25Val
XM_005255868.1:c.74G>T	XP_005255925.1:p.Gly25Val
XM_005255868.2:c.74G>T	XP_005255925.1:p.Gly25Val
XM_011522968.1:c.74G>T	XP_011521270.1:p.Gly25Val
XM_011522969.1:c.74G>T	XP_011521271.1:p.Gly25Val
XM_011522970.1:c.74G>T	XP_011521272.1:p.Gly25Val
XM_011522970.2:c.74G>T	XP_011521272.1:p.Gly25Val
XM_011522971.1:c.74G>T	XP_011521273.1:p.Gly25Val
XM_011522971.3:c.74G>T	XP_011521273.1:p.Gly25Val
XM_011522972.1:c.74G>T	XP_011521274.1:p.Gly25Val
XM_011522973.1:c.74G>T	XP_011521275.1:p.Gly25Val
XM_011522973.3:c.74G>T	XP_011521275.1:p.Gly25Val
XM_017023094.2:c.74G>T	XP_016878583.1:p.Gly25Val
XM_017023095.2:c.74G>T	XP_016878584.1:p.Gly25Val
XM_017023096.2:c.74G>T	XP_016878585.1:p.Gly25Val
XM_017023097.2:c.74G>T	XP_016878586.1:p.Gly25Val
XM_017023100.2:c.74G>T	XP_016878589.1:p.Gly25Val
XR_933260.1:n.106G>T
XR_933260.3:n.117G>T