Canonical Allele Identifier: CA7769129
Community Standard Title: NM_001015052.3(MPG):c.598G>A (p.Ala200Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.85493G>A , CM000678.2:g.85493G>A GRCh38
NC_000016.9:g.135492G>A , CM000678.1:g.135492G>A GRCh37
NC_000016.8:g.75492G>A NCBI36
NG_029669.1:g.58207C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001015052.3:c.598G>A (MPG) MANE Select NP_001015052.1:p.Ala200Thr
NM_001077350.3:c.*1212C>T (NPRL3) MANE Select NP_001070818.1:n.*1212C>T
ENST00000356432.8:c.598G>A (MPG) MANE Select ENSP00000348809.4:p.Ala200Thr
ENST00000611875.5:c.*1212C>T (NPRL3) MANE Select ENSP00000478273.1:n.*1212C>T
NM_001015052.2:c.598G>A (MPG) NP_001015052.1:p.Ala200Thr
NM_001015054.2:c.562G>A (MPG) NP_001015054.1:p.Ala188Thr
NM_001015054.3:c.562G>A (MPG) NP_001015054.1:p.Ala188Thr
NM_001039476.3:c.*1212C>T (NPRL3) NP_001034565.1:n.*1212C>T
NM_001243247.2:c.*1212C>T (NPRL3) NP_001230176.1:n.*1212C>T
NM_001243248.2:c.*1212C>T (NPRL3) NP_001230177.1:n.*1212C>T
NM_001243249.2:c.*1212C>T (NPRL3) NP_001230178.1:n.*1212C>T
NM_002434.3:c.613G>A (MPG) NP_002425.2:p.Ala205Thr
NM_002434.4:c.613G>A (MPG) NP_002425.2:p.Ala205Thr
ENST00000219431.4:c.613G>A (MPG) ENSP00000219431.4:p.Ala205Thr
ENST00000356432.7:c.598G>A (MPG) ENSP00000348809.3:p.Ala200Thr
ENST00000397817.5:c.562G>A (MPG) ENSP00000380918.1:p.Ala188Thr
ENST00000436333.5:c.562G>A (MPG) ENSP00000388097.1:p.Ala188Thr
ENST00000610509.1:n.2593-898C>T (NPRL3)
ENST00000620134.4:c.*885+327C>T (NPRL3) ENSP00000483814.1:n.*885+327C>T
ENST00000622194.4:c.*2558C>T (NPRL3) ENSP00000478045.1:n.*2558C>T
XM_011522668.1:c.*38-898C>T (NPRL3) XP_011520970.1:n.*38-898C>T
XM_011522669.1:c.*38-898C>T (NPRL3) XP_011520971.1:n.*38-898C>T
XM_011522670.1:c.*38-898C>T (NPRL3) XP_011520972.1:n.*38-898C>T
XM_011522671.1:c.*38-898C>T (NPRL3) XP_011520973.1:n.*38-898C>T
XM_011522672.1:c.*38-898C>T (NPRL3) XP_011520974.1:n.*38-898C>T
XM_011522673.1:c.*38-898C>T (NPRL3) XP_011520975.1:n.*38-898C>T
XM_011522674.1:c.*38-898C>T (NPRL3) XP_011520976.1:n.*38-898C>T
XM_011522675.1:c.*38-898C>T (NPRL3) XP_011520977.1:n.*38-898C>T
XM_011522676.1:c.*38-898C>T (NPRL3) XP_011520978.1:n.*38-898C>T
XM_011522677.1:c.*38-898C>T (NPRL3) XP_011520979.1:n.*38-898C>T
XM_011522678.1:c.*38-898C>T (NPRL3) XP_011520980.1:n.*38-898C>T
XM_011522679.1:c.*38-898C>T (NPRL3) XP_011520981.1:n.*38-898C>T
XM_011522680.1:c.*38-898C>T (NPRL3) XP_011520982.1:n.*38-898C>T
XM_011522681.1:c.*38-898C>T (NPRL3) XP_011520983.1:n.*38-898C>T
XM_024450282.1:c.613G>A (MPG) XP_024306050.1:p.Ala205Thr