Canonical Allele Identifier: CA8057121
Community Standard Title: NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly)
Gene: RPGRIP1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53602096T>C , CM000678.2:g.53602096T>C GRCh38
NC_000016.9:g.53636008T>C , CM000678.1:g.53636008T>C GRCh37
NC_000016.8:g.52193509T>C NCBI36
NG_008991.2:g.106764A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015272.5:c.3928A>G MANE Select NP_056087.2:p.Arg1310Gly
ENST00000647211.2:c.3928A>G MANE Select ENSP00000493946.1:p.Arg1310Gly
NM_001127897.1:c.3688A>G NP_001121369.1:p.Arg1230Gly
NM_001127897.2:c.3688A>G NP_001121369.1:p.Arg1230Gly
NM_001127897.3:c.3688A>G NP_001121369.1:p.Arg1230Gly
NM_001127897.4:c.3688A>G NP_001121369.1:p.Arg1230Gly
NM_001308334.1:c.3790A>G NP_001295263.1:p.Arg1264Gly
NM_001308334.2:c.3790A>G NP_001295263.1:p.Arg1264Gly
NM_001308334.3:c.3790A>G NP_001295263.1:p.Arg1264Gly
NM_001330538.1:c.3826A>G NP_001317467.1:p.Arg1276Gly
NM_001330538.2:c.3826A>G NP_001317467.1:p.Arg1276Gly
NM_015272.2:c.3928A>G NP_056087.2:p.Arg1310Gly
NM_015272.3:c.3928A>G NP_056087.2:p.Arg1310Gly
NM_015272.4:c.3928A>G NP_056087.2:p.Arg1310Gly
ENST00000262135.8:c.3688A>G ENSP00000262135.4:p.Arg1230Gly
ENST00000262135.9:c.3688A>G ENSP00000262135.4:p.Arg1230Gly
ENST00000379925.7:c.3928A>G ENSP00000369257.3:p.Arg1310Gly
ENST00000563746.5:c.3826A>G ENSP00000457889.1:p.Arg1276Gly
ENST00000565343.2:n.4352A>G
ENST00000621565.4:c.3790A>G ENSP00000480698.1:p.Arg1264Gly
ENST00000621565.5:c.3790A>G ENSP00000480698.1:p.Arg1264Gly
ENST00000680193.1:c.*688A>G ENSP00000506379.1:n.*688A>G
ENST00000681587.1:n.1700A>G
XM_005255867.1:c.3826A>G XP_005255924.1:p.Arg1276Gly
XM_005255868.1:c.3802A>G XP_005255925.1:p.Arg1268Gly
XM_005255868.2:c.3802A>G XP_005255925.1:p.Arg1268Gly
XM_005255871.2:c.2035A>G XP_005255928.1:p.Arg679Gly
XM_011522968.1:c.3928A>G XP_011521270.1:p.Arg1310Gly
XM_011522974.1:c.2035A>G XP_011521276.1:p.Arg679Gly
XM_017023094.2:c.3940A>G XP_016878583.1:p.Arg1314Gly
XM_017023095.2:c.3700A>G XP_016878584.1:p.Arg1234Gly
XM_017023098.1:c.2173A>G XP_016878587.1:p.Arg725Gly
XM_017023099.1:c.2173A>G XP_016878588.1:p.Arg725Gly