Canonical Allele Identifier: CA1139532749
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518861dup , CM000671.2:g.131518861dup GRCh38
NC_000009.11:g.134394248dup , CM000671.1:g.134394248dup GRCh37
NC_000009.10:g.133384069dup NCBI36
NG_008896.1:g.20960dup
NG_008896.2:g.20960dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1228dup ENSP00000343034.7:p.Trp410LeufsTer?
ENST00000404875.7:n.1930dup
ENST00000423007.6:c.1447dup ENSP00000404119.2:p.Trp483LeufsTer?
ENST00000677295.2:c.*1734dup ENSP00000504346.2:n.*1734dup
ENST00000678264.2:c.*1573dup ENSP00000503157.2:n.*1573dup
ENST00000682070.1:n.1855dup
ENST00000682539.1:c.328dup
ENST00000682813.1:n.1794dup
ENST00000683392.1:n.4137dup
ENST00000683712.1:n.1795dup
ENST00000683900.1:n.3290dup
ENST00000684062.1:n.2056dup
ENST00000684579.1:n.3236dup
ENST00000684679.1:n.617dup
ENST00000341012.12:c.1228dup ENSP00000343034.7:p.Trp410LeufsTer?
ENST00000372220.5:c.259dup ENSP00000361294.5:p.Trp87LeufsTer?
ENST00000372228.9:c.1456dup ENSP00000361302.3:p.Trp486LeufsTer?
ENST00000402686.8:c.1390dup MANE Select ENSP00000385797.4:p.Trp464LeufsTer?
ENST00000676640.1:c.1390dup ENSP00000503281.1:p.Trp464LeufsTer?
ENST00000676803.1:c.565dup ENSP00000503093.1:p.Trp189LeufsTer?
ENST00000676835.1:c.*605dup ENSP00000502911.1:n.*605dup
ENST00000677029.1:c.934dup ENSP00000502936.1:p.Trp312LeufsTer?
ENST00000677099.1:c.*1100dup ENSP00000504553.1:n.*1100dup
ENST00000677216.1:c.1039dup ENSP00000503772.1:p.Trp347LeufsTer?
ENST00000677221.1:n.415dup
ENST00000677295.1:c.*767dup ENSP00000504346.1:n.*767dup
ENST00000677444.1:c.1335dup
ENST00000677586.1:n.871dup
ENST00000677626.1:c.1039dup ENSP00000503552.1:p.Trp347LeufsTer?
ENST00000677677.1:n.1350dup
ENST00000677853.1:c.*398dup ENSP00000503488.1:n.*398dup
ENST00000678202.1:n.549dup
ENST00000678264.1:c.*767dup ENSP00000503157.1:n.*767dup
ENST00000678303.1:c.1300dup ENSP00000503696.1:p.Trp434LeufsTer?
ENST00000678366.1:c.*1639dup ENSP00000504353.1:n.*1639dup
ENST00000678546.1:c.*1335dup ENSP00000503062.1:n.*1335dup
ENST00000678548.1:c.*1462dup ENSP00000503934.1:n.*1462dup
ENST00000678626.1:n.1226dup
ENST00000678733.1:c.471dup
ENST00000678739.1:c.*1716dup ENSP00000503806.1:n.*1716dup
ENST00000678833.1:c.*837dup ENSP00000503893.1:n.*837dup
ENST00000679023.1:c.1228dup ENSP00000503718.1:p.Trp410LeufsTer?
ENST00000679076.1:c.1009dup
ENST00000679111.1:c.*146dup ENSP00000504257.1:n.*146dup
ENST00000679189.1:c.1039dup ENSP00000503356.1:p.Trp347LeufsTer?
ENST00000341012.11:c.1228dup ENSP00000343034.7:p.Trp410LeufsTer?
ENST00000372220.4:c.253dup ENSP00000361294.4:p.Trp85LeufsTer?
ENST00000372228.7:c.1456dup ENSP00000361302.3:p.Trp486LeufsTer?
ENST00000402686.7:c.1390dup ENSP00000385797.3:p.Trp464LeufsTer?
ENST00000404875.6:c.1039dup ENSP00000384531.2:p.Trp347LeufsTer?
ENST00000423007.5:c.1390dup ENSP00000404119.1:p.Trp464LeufsTer?
ENST00000467848.1:n.94dup
ENST00000485278.5:n.1945dup
NM_001077365.1:c.1390dup NP_001070833.1:p.Trp464LeufsTer?
NM_001077366.1:c.1228dup NP_001070834.1:p.Trp410LeufsTer?
NM_001136113.1:c.1390dup NP_001129585.1:p.Trp464LeufsTer?
NM_001136114.1:c.1039dup NP_001129586.1:p.Trp347LeufsTer?
NM_007171.3:c.1456dup NP_009102.3:p.Trp486LeufsTer?
XM_005272156.1:c.1456dup XP_005272213.1:p.Trp486LeufsTer?
XM_005272158.1:c.1294dup XP_005272215.1:p.Trp432LeufsTer?
XM_005272159.1:c.1105dup XP_005272216.1:p.Trp369LeufsTer?
XM_005272162.1:c.259dup XP_005272219.1:p.Trp87LeufsTer?
XM_006716932.1:c.1105dup XP_006716995.1:p.Trp369LeufsTer?
XM_011518140.1:c.1309dup XP_011516442.1:p.Trp437LeufsTer?
XM_011518141.1:c.1243dup XP_011516443.1:p.Trp415LeufsTer?
XM_011518142.1:c.1147dup XP_011516444.1:p.Trp383LeufsTer?
XM_011518143.1:c.1141dup XP_011516445.1:p.Trp381LeufsTer?
XM_011518144.1:c.*146dup XP_011516446.1:n.*146dup
XM_011518145.1:c.1000dup XP_011516447.1:p.Trp334LeufsTer?
XM_011518146.1:c.*146dup XP_011516448.1:n.*146dup
XM_011518147.1:c.328dup XP_011516449.1:p.Trp110LeufsTer?
XR_929703.1:n.1632dup
NM_001353193.1:c.1456dup NP_001340122.1:p.Trp486LeufsTer?
NM_001353194.1:c.1228dup NP_001340123.1:p.Trp410LeufsTer?
NM_001353195.1:c.1039dup NP_001340124.1:p.Trp347LeufsTer?
NM_001353196.1:c.1300dup NP_001340125.1:p.Trp434LeufsTer?
NM_001353197.1:c.1294dup NP_001340126.1:p.Trp432LeufsTer?
NM_001353198.1:c.1294dup NP_001340127.1:p.Trp432LeufsTer?
NM_001353199.1:c.1105dup NP_001340128.1:p.Trp369LeufsTer?
NM_001353200.1:c.934dup NP_001340129.1:p.Trp312LeufsTer?
NR_148391.1:n.1440dup
NR_148392.1:n.1658dup
NR_148393.1:n.1579dup
NR_148394.1:n.1333dup
NR_148395.1:n.1731dup
NR_148396.1:n.1365dup
NR_148397.1:n.1490dup
NR_148398.1:n.1445dup
NR_148399.1:n.1971dup
NR_148400.1:n.1570dup
XM_005272162.3:c.259dup XP_005272219.1:p.Trp87LeufsTer?
XM_006716932.2:c.1105dup XP_006716995.1:p.Trp369LeufsTer?
XM_011518140.2:c.1309dup XP_011516442.1:p.Trp437LeufsTer?
XM_011518141.2:c.1243dup XP_011516443.1:p.Trp415LeufsTer?
XM_011518142.2:c.1147dup XP_011516444.1:p.Trp383LeufsTer?
XM_011518143.2:c.1141dup XP_011516445.1:p.Trp381LeufsTer?
XM_011518145.2:c.1000dup XP_011516447.1:p.Trp334LeufsTer?
XM_017014205.2:c.259dup XP_016869694.1:p.Trp87LeufsTer?
XM_024447380.1:c.259dup XP_024303148.1:p.Trp87LeufsTer?
XM_024447381.1:c.565dup XP_024303149.1:p.Trp189LeufsTer?
XM_024447382.1:c.259dup XP_024303150.1:p.Trp87LeufsTer?
XR_001746160.2:n.1560dup
XR_001746162.2:n.1765dup
XR_001746164.1:n.1482dup
XR_001746166.2:n.1777dup
NM_001077365.2:c.1390dup MANE Select NP_001070833.1:p.Trp464LeufsTer?
NM_001077366.2:c.1228dup NP_001070834.1:p.Trp410LeufsTer?
NM_001136113.2:c.1390dup NP_001129585.1:p.Trp464LeufsTer?
NM_001136114.2:c.1039dup NP_001129586.1:p.Trp347LeufsTer?
NM_001353193.2:c.1456dup NP_001340122.2:p.Trp486LeufsTer?
NM_001353194.2:c.1228dup NP_001340123.1:p.Trp410LeufsTer?
NM_001353195.2:c.1039dup NP_001340124.1:p.Trp347LeufsTer?
NM_001353196.2:c.1300dup NP_001340125.1:p.Trp434LeufsTer?
NM_001353197.2:c.1294dup NP_001340126.2:p.Trp432LeufsTer?
NM_001353198.2:c.1294dup NP_001340127.2:p.Trp432LeufsTer?
NM_001353199.2:c.1105dup NP_001340128.2:p.Trp369LeufsTer?
NM_001353200.2:c.934dup NP_001340129.1:p.Trp312LeufsTer?
NM_001374689.1:c.1378dup NP_001361618.1:p.Trp460LeufsTer?
NM_001374690.1:c.1365+324dup NP_001361619.1:n.1365+324dup
NM_001374691.1:c.1039dup NP_001361620.1:p.Trp347LeufsTer?
NM_001374692.1:c.1039dup NP_001361621.1:p.Trp347LeufsTer?
NM_001374693.1:c.1039dup NP_001361622.1:p.Trp347LeufsTer?
NM_001374695.1:c.1000dup NP_001361624.1:p.Trp334LeufsTer?
NM_007171.4:c.1456dup NP_009102.4:p.Trp486LeufsTer?
NR_148391.2:n.1424dup
NR_148392.2:n.1642dup
NR_148393.2:n.1563dup
NR_148394.2:n.1317dup
NR_148395.2:n.1715dup
NR_148396.2:n.1349dup
NR_148397.2:n.1474dup
NR_148398.2:n.1429dup
NR_148399.2:n.1955dup
NR_148400.2:n.1554dup