Canonical Allele Identifier: CA394040140
Community Standard Title: NM_001015052.3(MPG):c.506G>C (p.Gly169Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.85401G>C , CM000678.2:g.85401G>C GRCh38
NC_000016.9:g.135400G>C , CM000678.1:g.135400G>C GRCh37
NC_000016.8:g.75400G>C NCBI36
NG_029669.1:g.58299C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001015052.3:c.506G>C (MPG) MANE Select NP_001015052.1:p.Gly169Ala
NM_001077350.3:c.*1304C>G (NPRL3) MANE Select NP_001070818.1:n.*1304C>G
ENST00000356432.8:c.506G>C (MPG) MANE Select ENSP00000348809.4:p.Gly169Ala
ENST00000611875.5:c.*1304C>G (NPRL3) MANE Select ENSP00000478273.1:n.*1304C>G
NM_001015052.2:c.506G>C (MPG) NP_001015052.1:p.Gly169Ala
NM_001015054.2:c.470G>C (MPG) NP_001015054.1:p.Gly157Ala
NM_001015054.3:c.470G>C (MPG) NP_001015054.1:p.Gly157Ala
NM_001039476.3:c.*1304C>G (NPRL3) NP_001034565.1:n.*1304C>G
NM_001243247.2:c.*1304C>G (NPRL3) NP_001230176.1:n.*1304C>G
NM_001243248.2:c.*1304C>G (NPRL3) NP_001230177.1:n.*1304C>G
NM_001243249.2:c.*1304C>G (NPRL3) NP_001230178.1:n.*1304C>G
NM_002434.3:c.521G>C (MPG) NP_002425.2:p.Gly174Ala
NM_002434.4:c.521G>C (MPG) NP_002425.2:p.Gly174Ala
ENST00000219431.4:c.521G>C (MPG) ENSP00000219431.4:p.Gly174Ala
ENST00000356432.7:c.506G>C (MPG) ENSP00000348809.3:p.Gly169Ala
ENST00000397817.5:c.470G>C (MPG) ENSP00000380918.1:p.Gly157Ala
ENST00000436333.5:c.470G>C (MPG) ENSP00000388097.1:p.Gly157Ala
ENST00000610509.1:n.2593-806C>G (NPRL3)
ENST00000620134.4:c.*885+419C>G (NPRL3) ENSP00000483814.1:n.*885+419C>G
ENST00000622194.4:c.*2650C>G (NPRL3) ENSP00000478045.1:n.*2650C>G
XM_011522668.1:c.*38-806C>G (NPRL3) XP_011520970.1:n.*38-806C>G
XM_011522669.1:c.*38-806C>G (NPRL3) XP_011520971.1:n.*38-806C>G
XM_011522670.1:c.*38-806C>G (NPRL3) XP_011520972.1:n.*38-806C>G
XM_011522671.1:c.*38-806C>G (NPRL3) XP_011520973.1:n.*38-806C>G
XM_011522672.1:c.*38-806C>G (NPRL3) XP_011520974.1:n.*38-806C>G
XM_011522673.1:c.*38-806C>G (NPRL3) XP_011520975.1:n.*38-806C>G
XM_011522674.1:c.*38-806C>G (NPRL3) XP_011520976.1:n.*38-806C>G
XM_011522675.1:c.*38-806C>G (NPRL3) XP_011520977.1:n.*38-806C>G
XM_011522676.1:c.*38-806C>G (NPRL3) XP_011520978.1:n.*38-806C>G
XM_011522677.1:c.*38-806C>G (NPRL3) XP_011520979.1:n.*38-806C>G
XM_011522678.1:c.*38-806C>G (NPRL3) XP_011520980.1:n.*38-806C>G
XM_011522679.1:c.*38-806C>G (NPRL3) XP_011520981.1:n.*38-806C>G
XM_011522680.1:c.*38-806C>G (NPRL3) XP_011520982.1:n.*38-806C>G
XM_011522681.1:c.*38-806C>G (NPRL3) XP_011520983.1:n.*38-806C>G
XM_024450282.1:c.521G>C (MPG) XP_024306050.1:p.Gly174Ala