Canonical Allele Identifier: CA375311208
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518470C>G , CM000671.2:g.131518470C>G GRCh38
NC_000009.11:g.134393857C>G , CM000671.1:g.134393857C>G GRCh37
NC_000009.10:g.133383678C>G NCBI36
NG_008896.1:g.20569C>G
NG_008896.2:g.20569C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1136C>G ENSP00000343034.7:p.Thr379Arg
ENST00000404875.7:n.1838C>G
ENST00000423007.6:c.1355C>G ENSP00000404119.2:p.Thr452Arg
ENST00000677295.2:c.*1642C>G ENSP00000504346.2:n.*1642C>G
ENST00000678264.2:c.*1481C>G ENSP00000503157.2:n.*1481C>G
ENST00000682070.1:n.1763C>G
ENST00000682535.1:n.70C>G
ENST00000682539.1:c.236C>G
ENST00000682813.1:n.1563C>G
ENST00000683110.1:n.26C>G
ENST00000683392.1:n.4045C>G
ENST00000683712.1:n.1703C>G
ENST00000683900.1:n.3198C>G
ENST00000684062.1:n.1964C>G
ENST00000684579.1:n.3144C>G
ENST00000684679.1:n.525C>G
ENST00000341012.12:c.1136C>G ENSP00000343034.7:p.Thr379Arg
ENST00000372220.5:c.167C>G ENSP00000361294.5:p.Thr56Arg
ENST00000372228.9:c.1364C>G ENSP00000361302.3:p.Thr455Arg
ENST00000402686.8:c.1298C>G MANE Select ENSP00000385797.4:p.Thr433Arg
ENST00000676640.1:c.1298C>G ENSP00000503281.1:p.Thr433Arg
ENST00000676803.1:c.473C>G ENSP00000503093.1:p.Thr158Arg
ENST00000676835.1:c.*513C>G ENSP00000502911.1:n.*513C>G
ENST00000677029.1:c.842C>G ENSP00000502936.1:p.Thr281Arg
ENST00000677099.1:c.*1008C>G ENSP00000504553.1:n.*1008C>G
ENST00000677216.1:c.947C>G ENSP00000503772.1:p.Thr316Arg
ENST00000677221.1:n.323C>G
ENST00000677295.1:c.*675C>G ENSP00000504346.1:n.*675C>G
ENST00000677444.1:c.1104C>G
ENST00000677586.1:n.779C>G
ENST00000677626.1:c.947C>G ENSP00000503552.1:p.Thr316Arg
ENST00000677677.1:n.1258C>G
ENST00000677853.1:c.*306C>G ENSP00000503488.1:n.*306C>G
ENST00000677983.1:n.387C>G
ENST00000678202.1:n.318C>G
ENST00000678264.1:c.*675C>G ENSP00000503157.1:n.*675C>G
ENST00000678303.1:c.1208C>G ENSP00000503696.1:p.Thr403Arg
ENST00000678366.1:c.*1547C>G ENSP00000504353.1:n.*1547C>G
ENST00000678546.1:c.*1243C>G ENSP00000503062.1:n.*1243C>G
ENST00000678548.1:c.*1370C>G ENSP00000503934.1:n.*1370C>G
ENST00000678626.1:n.995C>G
ENST00000678733.1:c.379C>G
ENST00000678739.1:c.*1624C>G ENSP00000503806.1:n.*1624C>G
ENST00000678795.1:n.385C>G
ENST00000678833.1:c.*745C>G ENSP00000503893.1:n.*745C>G
ENST00000678942.1:c.478C>G ENSP00000504690.1:n.478C>G
ENST00000679023.1:c.1136C>G ENSP00000503718.1:p.Thr379Arg
ENST00000679076.1:c.917C>G
ENST00000679111.1:c.1298C>G ENSP00000504257.1:p.Thr433Arg
ENST00000679189.1:c.947C>G ENSP00000503356.1:p.Thr316Arg
ENST00000341012.11:c.1136C>G ENSP00000343034.7:p.Thr379Arg
ENST00000372220.4:c.161C>G ENSP00000361294.4:p.Thr54Arg
ENST00000372228.7:c.1364C>G ENSP00000361302.3:p.Thr455Arg
ENST00000402686.7:c.1298C>G ENSP00000385797.3:p.Thr433Arg
ENST00000404875.6:c.947C>G ENSP00000384531.2:p.Thr316Arg
ENST00000423007.5:c.1298C>G ENSP00000404119.1:p.Thr433Arg
ENST00000485278.5:n.1853C>G
NM_001077365.1:c.1298C>G NP_001070833.1:p.Thr433Arg
NM_001077366.1:c.1136C>G NP_001070834.1:p.Thr379Arg
NM_001136113.1:c.1298C>G NP_001129585.1:p.Thr433Arg
NM_001136114.1:c.947C>G NP_001129586.1:p.Thr316Arg
NM_007171.3:c.1364C>G NP_009102.3:p.Thr455Arg
XM_005272156.1:c.1364C>G XP_005272213.1:p.Thr455Arg
XM_005272158.1:c.1202C>G XP_005272215.1:p.Thr401Arg
XM_005272159.1:c.1013C>G XP_005272216.1:p.Thr338Arg
XM_005272162.1:c.167C>G XP_005272219.1:p.Thr56Arg
XM_006716932.1:c.1013C>G XP_006716995.1:p.Thr338Arg
XM_011518140.1:c.1217C>G XP_011516442.1:p.Thr406Arg
XM_011518141.1:c.1151C>G XP_011516443.1:p.Thr384Arg
XM_011518142.1:c.1055C>G XP_011516444.1:p.Thr352Arg
XM_011518143.1:c.1049C>G XP_011516445.1:p.Thr350Arg
XM_011518144.1:c.1364C>G XP_011516446.1:p.Thr455Arg
XM_011518145.1:c.908C>G XP_011516447.1:p.Thr303Arg
XM_011518146.1:c.1049C>G XP_011516448.1:p.Thr350Arg
XM_011518147.1:c.236C>G XP_011516449.1:p.Thr79Arg
XR_929703.1:n.1540C>G
NM_001353193.1:c.1364C>G NP_001340122.1:p.Thr455Arg
NM_001353194.1:c.1136C>G NP_001340123.1:p.Thr379Arg
NM_001353195.1:c.947C>G NP_001340124.1:p.Thr316Arg
NM_001353196.1:c.1208C>G NP_001340125.1:p.Thr403Arg
NM_001353197.1:c.1202C>G NP_001340126.1:p.Thr401Arg
NM_001353198.1:c.1202C>G NP_001340127.1:p.Thr401Arg
NM_001353199.1:c.1013C>G NP_001340128.1:p.Thr338Arg
NM_001353200.1:c.842C>G NP_001340129.1:p.Thr281Arg
NR_148391.1:n.1348C>G
NR_148392.1:n.1566C>G
NR_148393.1:n.1348C>G
NR_148394.1:n.1241C>G
NR_148395.1:n.1500C>G
NR_148396.1:n.1134C>G
NR_148397.1:n.1398C>G
NR_148398.1:n.1353C>G
NR_148399.1:n.1740C>G
NR_148400.1:n.1339C>G
XM_005272162.3:c.167C>G XP_005272219.1:p.Thr56Arg
XM_006716932.2:c.1013C>G XP_006716995.1:p.Thr338Arg
XM_011518140.2:c.1217C>G XP_011516442.1:p.Thr406Arg
XM_011518141.2:c.1151C>G XP_011516443.1:p.Thr384Arg
XM_011518142.2:c.1055C>G XP_011516444.1:p.Thr352Arg
XM_011518143.2:c.1049C>G XP_011516445.1:p.Thr350Arg
XM_011518145.2:c.908C>G XP_011516447.1:p.Thr303Arg
XM_017014205.2:c.167C>G XP_016869694.1:p.Thr56Arg
XM_024447380.1:c.167C>G XP_024303148.1:p.Thr56Arg
XM_024447381.1:c.473C>G XP_024303149.1:p.Thr158Arg
XM_024447382.1:c.167C>G XP_024303150.1:p.Thr56Arg
XR_001746160.2:n.1468C>G
XR_001746162.2:n.1534C>G
XR_001746164.1:n.1251C>G
XR_001746166.2:n.1685C>G
NM_001077365.2:c.1298C>G MANE Select NP_001070833.1:p.Thr433Arg
NM_001077366.2:c.1136C>G NP_001070834.1:p.Thr379Arg
NM_001136113.2:c.1298C>G NP_001129585.1:p.Thr433Arg
NM_001136114.2:c.947C>G NP_001129586.1:p.Thr316Arg
NM_001353193.2:c.1364C>G NP_001340122.2:p.Thr455Arg
NM_001353194.2:c.1136C>G NP_001340123.1:p.Thr379Arg
NM_001353195.2:c.947C>G NP_001340124.1:p.Thr316Arg
NM_001353196.2:c.1208C>G NP_001340125.1:p.Thr403Arg
NM_001353197.2:c.1202C>G NP_001340126.2:p.Thr401Arg
NM_001353198.2:c.1202C>G NP_001340127.2:p.Thr401Arg
NM_001353199.2:c.1013C>G NP_001340128.2:p.Thr338Arg
NM_001353200.2:c.842C>G NP_001340129.1:p.Thr281Arg
NM_001374689.1:c.1286C>G NP_001361618.1:p.Thr429Arg
NM_001374690.1:c.1298C>G NP_001361619.1:p.Thr433Arg
NM_001374691.1:c.947C>G NP_001361620.1:p.Thr316Arg
NM_001374692.1:c.947C>G NP_001361621.1:p.Thr316Arg
NM_001374693.1:c.947C>G NP_001361622.1:p.Thr316Arg
NM_001374695.1:c.908C>G NP_001361624.1:p.Thr303Arg
NM_007171.4:c.1364C>G NP_009102.4:p.Thr455Arg
NR_148391.2:n.1332C>G
NR_148392.2:n.1550C>G
NR_148393.2:n.1332C>G
NR_148394.2:n.1225C>G
NR_148395.2:n.1484C>G
NR_148396.2:n.1118C>G
NR_148397.2:n.1382C>G
NR_148398.2:n.1337C>G
NR_148399.2:n.1724C>G
NR_148400.2:n.1323C>G