Canonical Allele Identifier: CA8057132

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53602166A>G , CM000678.2:g.53602166A>G	GRCh38
NC_000016.9:g.53636078A>G , CM000678.1:g.53636078A>G	GRCh37
NC_000016.8:g.52193579A>G	NCBI36
NG_008991.2:g.106694T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.3858T>C MANE Select	NP_056087.2:p.Gly1286=
ENST00000647211.2:c.3858T>C MANE Select	ENSP00000493946.1:p.Gly1286=
NM_001127897.1:c.3618T>C	NP_001121369.1:p.Gly1206=
NM_001127897.2:c.3618T>C	NP_001121369.1:p.Gly1206=
NM_001127897.3:c.3618T>C	NP_001121369.1:p.Gly1206=
NM_001127897.4:c.3618T>C	NP_001121369.1:p.Gly1206=
NM_001308334.1:c.3720T>C	NP_001295263.1:p.Gly1240=
NM_001308334.2:c.3720T>C	NP_001295263.1:p.Gly1240=
NM_001308334.3:c.3720T>C	NP_001295263.1:p.Gly1240=
NM_001330538.1:c.3756T>C	NP_001317467.1:p.Gly1252=
NM_001330538.2:c.3756T>C	NP_001317467.1:p.Gly1252=
NM_015272.2:c.3858T>C	NP_056087.2:p.Gly1286=
NM_015272.3:c.3858T>C	NP_056087.2:p.Gly1286=
NM_015272.4:c.3858T>C	NP_056087.2:p.Gly1286=
ENST00000262135.8:c.3618T>C	ENSP00000262135.4:p.Gly1206=
ENST00000262135.9:c.3618T>C	ENSP00000262135.4:p.Gly1206=
ENST00000379925.7:c.3858T>C	ENSP00000369257.3:p.Gly1286=
ENST00000563746.5:c.3756T>C	ENSP00000457889.1:p.Gly1252=
ENST00000565343.2:n.4282T>C
ENST00000621565.4:c.3720T>C	ENSP00000480698.1:p.Gly1240=
ENST00000621565.5:c.3720T>C	ENSP00000480698.1:p.Gly1240=
ENST00000680193.1:c.*618T>C	ENSP00000506379.1:n.*618T>C
ENST00000681587.1:n.1630T>C
XM_005255867.1:c.3756T>C	XP_005255924.1:p.Gly1252=
XM_005255868.1:c.3732T>C	XP_005255925.1:p.Gly1244=
XM_005255868.2:c.3732T>C	XP_005255925.1:p.Gly1244=
XM_005255871.2:c.1965T>C	XP_005255928.1:p.Gly655=
XM_011522968.1:c.3858T>C	XP_011521270.1:p.Gly1286=
XM_011522974.1:c.1965T>C	XP_011521276.1:p.Gly655=
XM_017023094.2:c.3870T>C	XP_016878583.1:p.Gly1290=
XM_017023095.2:c.3630T>C	XP_016878584.1:p.Gly1210=
XM_017023098.1:c.2103T>C	XP_016878587.1:p.Gly701=
XM_017023099.1:c.2103T>C	XP_016878588.1:p.Gly701=