Canonical Allele Identifier: CA141941682
Community Standard Title: NM_015599.3(PGM3):c.1514G>T (p.Arg505Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83170330C>A , CM000668.2:g.83170330C>A GRCh38
NC_000006.11:g.83880049C>A , CM000668.1:g.83880049C>A GRCh37
NC_000006.10:g.83936768C>A NCBI36
NG_034146.1:g.28607G>T
NG_034146.2:g.28571G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015599.3:c.1514G>T (PGM3) MANE Select NP_056414.1:p.Arg505Leu
ENST00000513973.6:c.1514G>T (PGM3) MANE Select ENSP00000424874.1:p.Arg505Leu
NM_001199917.1:c.1598G>T (PGM3) NP_001186846.1:p.Arg533Leu
NM_001199917.2:c.1598G>T (PGM3) NP_001186846.1:p.Arg533Leu
NM_001199918.1:c.1271G>T (PGM3) NP_001186847.1:p.Arg424Leu
NM_001199918.2:c.1271G>T (PGM3) NP_001186847.1:p.Arg424Leu
NM_001199919.1:c.1514G>T (PGM3) NP_001186848.1:p.Arg505Leu
NM_001199919.2:c.1514G>T (PGM3) NP_001186848.1:p.Arg505Leu
NM_001367286.1:c.1391G>T (PGM3) NP_001354215.1:p.Arg464Leu
NM_001367287.1:c.1598G>T (PGM3) NP_001354216.1:p.Arg533Leu
NM_015599.2:c.1514G>T (PGM3) NP_056414.1:p.Arg505Leu
NR_159812.1:n.1603G>T (PGM3)
NR_159812.2:n.1603G>T (PGM3)
NR_169791.1:n.8314C>A (DOP1A)
ENST00000283977.8:c.1271G>T (PGM3) ENSP00000283977.4:p.Arg424Leu
ENST00000283977.9:c.1271G>T (PGM3) ENSP00000283977.5:p.Arg424Leu
ENST00000484282.1:n.4453C>A (DOP1A)
ENST00000504780.5:c.226G>T (PGM3)
ENST00000504780.6:c.*465G>T (PGM3) ENSP00000421154.2:n.*465G>T
ENST00000505470.6:c.*1294G>T (PGM3) ENSP00000423769.1:n.*1294G>T
ENST00000506587.5:c.1598G>T (PGM3) ENSP00000425809.1:p.Arg533Leu
ENST00000507554.2:c.1514G>T (PGM3) ENSP00000425558.2:p.Arg505Leu
ENST00000508748.6:c.1598G>T (PGM3) ENSP00000424865.2:p.Arg533Leu
ENST00000509219.1:c.407G>T (PGM3) ENSP00000423389.1:p.Arg136Leu
ENST00000509219.2:c.1514G>T (PGM3) ENSP00000423389.2:p.Arg505Leu
ENST00000512866.5:c.1514G>T (PGM3) ENSP00000421565.1:p.Arg505Leu
ENST00000513973.5:c.1514G>T (PGM3) ENSP00000424874.1:p.Arg505Leu
ENST00000616566.4:c.1271G>T (PGM3) ENSP00000477539.1:p.Arg424Leu
ENST00000616566.5:c.1148G>T (PGM3) ENSP00000477539.2:p.Arg383Leu
ENST00000650640.1:c.*498G>T (PGM3) ENSP00000498423.1:n.*498G>T
ENST00000650642.1:c.1391G>T (PGM3) ENSP00000498516.1:p.Arg464Leu
ENST00000651204.1:c.1010G>T (PGM3)
ENST00000651204.2:c.*252G>T (PGM3) ENSP00000498912.2:n.*252G>T
ENST00000651425.1:c.1271G>T (PGM3) ENSP00000498986.1:p.Arg424Leu
ENST00000651698.1:c.628G>T (PGM3)
ENST00000651698.2:c.*465G>T (PGM3) ENSP00000498398.2:n.*465G>T
ENST00000652222.1:c.1169G>T (PGM3) ENSP00000499141.1:p.Arg390Leu
ENST00000652222.2:c.1415G>T (PGM3) ENSP00000499141.2:p.Arg472Leu
ENST00000652468.1:c.1514G>T (PGM3) ENSP00000499112.1:p.Arg505Leu
ENST00000698524.1:c.1514G>T (PGM3) ENSP00000513773.1:p.Arg505Leu
ENST00000698525.1:c.590G>T (PGM3) ENSP00000513774.1:p.Arg197Leu
ENST00000698526.1:c.1514G>T (PGM3) ENSP00000513775.1:p.Arg505Leu
ENST00000698599.1:c.1514G>T (PGM3) ENSP00000513827.1:p.Arg505Leu
ENST00000698600.1:c.*465G>T (PGM3) ENSP00000513828.1:n.*465G>T
ENST00000698601.1:c.*1093G>T (PGM3) ENSP00000513829.1:n.*1093G>T
ENST00000698602.1:c.1514G>T (PGM3) ENSP00000513830.1:p.Arg505Leu
ENST00000698603.1:c.*1290G>T (PGM3) ENSP00000513831.1:n.*1290G>T
ENST00000698604.1:c.*1052G>T (PGM3) ENSP00000513832.1:n.*1052G>T
ENST00000698605.1:c.*1294G>T (PGM3) ENSP00000513833.1:n.*1294G>T
ENST00000698606.1:n.3363G>T (PGM3)
ENST00000698607.1:c.*1939G>T (PGM3) ENSP00000513834.1:n.*1939G>T
ENST00000698608.1:c.1172G>T (PGM3) ENSP00000513835.1:p.Arg391Leu
ENST00000698609.1:c.*1972G>T (PGM3) ENSP00000513836.1:n.*1972G>T
ENST00000698610.1:c.1271G>T (PGM3) ENSP00000513837.1:p.Arg424Leu
ENST00000698611.1:n.5151G>T (PGM3)
ENST00000698612.1:c.1076G>T (PGM3) ENSP00000513838.1:p.Arg359Leu
ENST00000698613.1:c.1415G>T (PGM3) ENSP00000513839.1:p.Arg472Leu
ENST00000698614.1:c.*465G>T (PGM3) ENSP00000513840.1:n.*465G>T
ENST00000698615.1:c.*1113G>T (PGM3) ENSP00000513841.1:n.*1113G>T
XM_011535619.2:c.*688C>A (DOP1A) XP_011533921.1:n.*688C>A
XM_011535901.1:c.1598G>T (PGM3) XP_011534203.1:p.Arg533Leu
XM_011535902.1:c.1598G>T (PGM3) XP_011534204.1:p.Arg533Leu
XM_011535903.1:c.1598G>T (PGM3) XP_011534205.1:p.Arg533Leu
XM_017010559.1:c.*688C>A (DOP1A) XP_016866048.1:n.*688C>A
XM_017010560.2:c.*688C>A (DOP1A) XP_016866049.1:n.*688C>A
XM_017010561.1:c.*688C>A (DOP1A) XP_016866050.1:n.*688C>A
XM_017010562.2:c.*688C>A (DOP1A) XP_016866051.1:n.*688C>A
XM_017010564.1:c.*688C>A (DOP1A) XP_016866053.1:n.*688C>A
XM_017010566.1:c.*688C>A (DOP1A) XP_016866055.1:n.*688C>A
XM_017010570.1:c.*688C>A (DOP1A) XP_016866059.1:n.*688C>A
XM_017010571.1:c.*688C>A (DOP1A) XP_016866060.1:n.*688C>A
XM_017010572.1:c.*688C>A (DOP1A) XP_016866061.1:n.*688C>A
XM_017010935.1:c.1271G>T (PGM3) XP_016866424.1:p.Arg424Leu
XM_017010937.1:c.1148G>T (PGM3) XP_016866426.1:p.Arg383Leu
XM_024446459.1:c.1391G>T (PGM3) XP_024302227.1:p.Arg464Leu
XM_024446460.1:c.1598G>T (PGM3) XP_024302228.1:p.Arg533Leu
XR_001743468.2:n.1398G>T (PGM3)
XR_942476.1:n.1755G>T (PGM3)
XR_942477.1:n.1740G>T (PGM3)
XR_942478.1:n.1604G>T (PGM3)
XR_942478.3:n.1604G>T (PGM3)
XR_942479.1:n.1630G>T (PGM3)
XR_942480.1:n.1398G>T (PGM3)
XR_942480.2:n.1398G>T (PGM3)