Canonical Allele Identifier: CA395916721

Gene: RPGRIP1L

Linked Data

• dbSNP Id: rs1966879125
• gnomAD v3: 16-53652621-T-G
• gnomAD v4: 16-53652621-T-G
• MyVariant Identifiers: chr16:g.53686533T>G (hg19) ; chr16:g.53652621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53652621T>G , CM000678.2:g.53652621T>G	GRCh38
NC_000016.9:g.53686533T>G , CM000678.1:g.53686533T>G	GRCh37
NC_000016.8:g.52244034T>G	NCBI36
NG_008991.2:g.56239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262135.9:c.2066A>C	ENSP00000262135.4:p.Glu689Ala
ENST00000565343.2:n.2490A>C
ENST00000621565.5:c.2066A>C	ENSP00000480698.1:p.Glu689Ala
ENST00000647211.2:c.2066A>C MANE Select	ENSP00000493946.1:p.Glu689Ala
ENST00000680193.1:c.2066A>C	ENSP00000506379.1:p.Glu689Ala
ENST00000262135.8:c.2066A>C	ENSP00000262135.4:p.Glu689Ala
ENST00000379925.7:c.2066A>C	ENSP00000369257.3:p.Glu689Ala
ENST00000563746.5:c.2066A>C	ENSP00000457889.1:p.Glu689Ala
ENST00000564374.5:c.2066A>C	ENSP00000456534.1:p.Glu689Ala
ENST00000621565.4:c.2066A>C	ENSP00000480698.1:p.Glu689Ala
NM_001127897.1:c.2066A>C	NP_001121369.1:p.Glu689Ala
NM_001127897.2:c.2066A>C	NP_001121369.1:p.Glu689Ala
NM_001308334.1:c.2066A>C	NP_001295263.1:p.Glu689Ala
NM_015272.2:c.2066A>C	NP_056087.2:p.Glu689Ala
NM_015272.3:c.2066A>C	NP_056087.2:p.Glu689Ala
XM_005255867.1:c.2066A>C	XP_005255924.1:p.Glu689Ala
XM_005255868.1:c.2078A>C	XP_005255925.1:p.Glu693Ala
XM_005255871.2:c.311A>C	XP_005255928.1:p.Glu104Ala
XM_011522968.1:c.2066A>C	XP_011521270.1:p.Glu689Ala
XM_011522969.1:c.2078A>C	XP_011521271.1:p.Glu693Ala
XM_011522970.1:c.2078A>C	XP_011521272.1:p.Glu693Ala
XM_011522971.1:c.2078A>C	XP_011521273.1:p.Glu693Ala
XM_011522972.1:c.2078A>C	XP_011521274.1:p.Glu693Ala
XM_011522973.1:c.2078A>C	XP_011521275.1:p.Glu693Ala
XM_011522974.1:c.311A>C	XP_011521276.1:p.Glu104Ala
XR_933260.1:n.2110A>C
NM_001127897.3:c.2066A>C	NP_001121369.1:p.Glu689Ala
NM_001308334.2:c.2066A>C	NP_001295263.1:p.Glu689Ala
NM_001330538.1:c.2066A>C	NP_001317467.1:p.Glu689Ala
NM_015272.4:c.2066A>C	NP_056087.2:p.Glu689Ala
XM_005255868.2:c.2078A>C	XP_005255925.1:p.Glu693Ala
XM_011522970.2:c.2078A>C	XP_011521272.1:p.Glu693Ala
XM_011522971.3:c.2078A>C	XP_011521273.1:p.Glu693Ala
XM_011522973.3:c.2078A>C	XP_011521275.1:p.Glu693Ala
XM_017023094.2:c.2078A>C	XP_016878583.1:p.Glu693Ala
XM_017023095.2:c.2078A>C	XP_016878584.1:p.Glu693Ala
XM_017023096.2:c.2078A>C	XP_016878585.1:p.Glu693Ala
XM_017023097.2:c.2078A>C	XP_016878586.1:p.Glu693Ala
XM_017023098.1:c.311A>C	XP_016878587.1:p.Glu104Ala
XM_017023099.1:c.311A>C	XP_016878588.1:p.Glu104Ala
XR_933260.3:n.2121A>C
NM_015272.5:c.2066A>C MANE Select	NP_056087.2:p.Glu689Ala
NM_001127897.4:c.2066A>C	NP_001121369.1:p.Glu689Ala
NM_001330538.2:c.2066A>C	NP_001317467.1:p.Glu689Ala
NM_001308334.3:c.2066A>C	NP_001295263.1:p.Glu689Ala