Canonical Allele Identifier: CA375311943
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518895A>G , CM000671.2:g.131518895A>G GRCh38
NC_000009.11:g.134394282A>G , CM000671.1:g.134394282A>G GRCh37
NC_000009.10:g.133384103A>G NCBI36
NG_008896.1:g.20994A>G
NG_008896.2:g.20994A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1262A>G ENSP00000343034.7:p.Lys421Arg
ENST00000404875.7:n.1964A>G
ENST00000423007.6:c.1481A>G ENSP00000404119.2:p.Lys494Arg
ENST00000677295.2:c.*1768A>G ENSP00000504346.2:n.*1768A>G
ENST00000678264.2:c.*1607A>G ENSP00000503157.2:n.*1607A>G
ENST00000682070.1:n.1889A>G
ENST00000682539.1:c.362A>G
ENST00000682813.1:n.1828A>G
ENST00000683392.1:n.4171A>G
ENST00000683712.1:n.1829A>G
ENST00000683900.1:n.3324A>G
ENST00000684062.1:n.2090A>G
ENST00000684579.1:n.3270A>G
ENST00000684679.1:n.651A>G
ENST00000341012.12:c.1262A>G ENSP00000343034.7:p.Lys421Arg
ENST00000372220.5:c.293A>G ENSP00000361294.5:p.Lys98Arg
ENST00000372228.9:c.1490A>G ENSP00000361302.3:p.Lys497Arg
ENST00000402686.8:c.1424A>G MANE Select ENSP00000385797.4:p.Lys475Arg
ENST00000676640.1:c.1424A>G ENSP00000503281.1:p.Lys475Arg
ENST00000676803.1:c.599A>G ENSP00000503093.1:p.Lys200Arg
ENST00000676835.1:c.*639A>G ENSP00000502911.1:n.*639A>G
ENST00000677029.1:c.968A>G ENSP00000502936.1:p.Lys323Arg
ENST00000677099.1:c.*1134A>G ENSP00000504553.1:n.*1134A>G
ENST00000677216.1:c.1073A>G ENSP00000503772.1:p.Lys358Arg
ENST00000677221.1:n.449A>G
ENST00000677295.1:c.*801A>G ENSP00000504346.1:n.*801A>G
ENST00000677444.1:c.1369A>G
ENST00000677586.1:n.905A>G
ENST00000677626.1:c.1073A>G ENSP00000503552.1:p.Lys358Arg
ENST00000677677.1:n.1384A>G
ENST00000677853.1:c.*432A>G ENSP00000503488.1:n.*432A>G
ENST00000678202.1:n.583A>G
ENST00000678264.1:c.*801A>G ENSP00000503157.1:n.*801A>G
ENST00000678303.1:c.1334A>G ENSP00000503696.1:p.Lys445Arg
ENST00000678366.1:c.*1673A>G ENSP00000504353.1:n.*1673A>G
ENST00000678546.1:c.*1369A>G ENSP00000503062.1:n.*1369A>G
ENST00000678548.1:c.*1496A>G ENSP00000503934.1:n.*1496A>G
ENST00000678626.1:n.1260A>G
ENST00000678733.1:c.505A>G
ENST00000678739.1:c.*1750A>G ENSP00000503806.1:n.*1750A>G
ENST00000678833.1:c.*871A>G ENSP00000503893.1:n.*871A>G
ENST00000679023.1:c.1262A>G ENSP00000503718.1:p.Lys421Arg
ENST00000679076.1:c.1043A>G
ENST00000679111.1:c.*180A>G ENSP00000504257.1:n.*180A>G
ENST00000679189.1:c.1073A>G ENSP00000503356.1:p.Lys358Arg
ENST00000341012.11:c.1262A>G ENSP00000343034.7:p.Lys421Arg
ENST00000372220.4:c.287A>G ENSP00000361294.4:p.Lys96Arg
ENST00000372228.7:c.1490A>G ENSP00000361302.3:p.Lys497Arg
ENST00000402686.7:c.1424A>G ENSP00000385797.3:p.Lys475Arg
ENST00000404875.6:c.1073A>G ENSP00000384531.2:p.Lys358Arg
ENST00000423007.5:c.1424A>G ENSP00000404119.1:p.Lys475Arg
ENST00000467848.1:n.128A>G
ENST00000485278.5:n.1979A>G
NM_001077365.1:c.1424A>G NP_001070833.1:p.Lys475Arg
NM_001077366.1:c.1262A>G NP_001070834.1:p.Lys421Arg
NM_001136113.1:c.1424A>G NP_001129585.1:p.Lys475Arg
NM_001136114.1:c.1073A>G NP_001129586.1:p.Lys358Arg
NM_007171.3:c.1490A>G NP_009102.3:p.Lys497Arg
XM_005272156.1:c.1490A>G XP_005272213.1:p.Lys497Arg
XM_005272158.1:c.1328A>G XP_005272215.1:p.Lys443Arg
XM_005272159.1:c.1139A>G XP_005272216.1:p.Lys380Arg
XM_005272162.1:c.293A>G XP_005272219.1:p.Lys98Arg
XM_006716932.1:c.1139A>G XP_006716995.1:p.Lys380Arg
XM_011518140.1:c.1343A>G XP_011516442.1:p.Lys448Arg
XM_011518141.1:c.1277A>G XP_011516443.1:p.Lys426Arg
XM_011518142.1:c.1181A>G XP_011516444.1:p.Lys394Arg
XM_011518143.1:c.1175A>G XP_011516445.1:p.Lys392Arg
XM_011518145.1:c.1034A>G XP_011516447.1:p.Lys345Arg
XM_011518147.1:c.362A>G XP_011516449.1:p.Lys121Arg
XR_929703.1:n.1666A>G
NM_001353193.1:c.1490A>G NP_001340122.1:p.Lys497Arg
NM_001353194.1:c.1262A>G NP_001340123.1:p.Lys421Arg
NM_001353195.1:c.1073A>G NP_001340124.1:p.Lys358Arg
NM_001353196.1:c.1334A>G NP_001340125.1:p.Lys445Arg
NM_001353197.1:c.1328A>G NP_001340126.1:p.Lys443Arg
NM_001353198.1:c.1328A>G NP_001340127.1:p.Lys443Arg
NM_001353199.1:c.1139A>G NP_001340128.1:p.Lys380Arg
NM_001353200.1:c.968A>G NP_001340129.1:p.Lys323Arg
NR_148391.1:n.1474A>G
NR_148392.1:n.1692A>G
NR_148393.1:n.1613A>G
NR_148394.1:n.1367A>G
NR_148395.1:n.1765A>G
NR_148396.1:n.1399A>G
NR_148397.1:n.1524A>G
NR_148398.1:n.1479A>G
NR_148399.1:n.2005A>G
NR_148400.1:n.1604A>G
XM_005272162.3:c.293A>G XP_005272219.1:p.Lys98Arg
XM_006716932.2:c.1139A>G XP_006716995.1:p.Lys380Arg
XM_011518140.2:c.1343A>G XP_011516442.1:p.Lys448Arg
XM_011518141.2:c.1277A>G XP_011516443.1:p.Lys426Arg
XM_011518142.2:c.1181A>G XP_011516444.1:p.Lys394Arg
XM_011518143.2:c.1175A>G XP_011516445.1:p.Lys392Arg
XM_011518145.2:c.1034A>G XP_011516447.1:p.Lys345Arg
XM_017014205.2:c.293A>G XP_016869694.1:p.Lys98Arg
XM_024447380.1:c.293A>G XP_024303148.1:p.Lys98Arg
XM_024447381.1:c.599A>G XP_024303149.1:p.Lys200Arg
XM_024447382.1:c.293A>G XP_024303150.1:p.Lys98Arg
XR_001746160.2:n.1594A>G
XR_001746162.2:n.1799A>G
XR_001746164.1:n.1516A>G
XR_001746166.2:n.1811A>G
NM_001077365.2:c.1424A>G MANE Select NP_001070833.1:p.Lys475Arg
NM_001077366.2:c.1262A>G NP_001070834.1:p.Lys421Arg
NM_001136113.2:c.1424A>G NP_001129585.1:p.Lys475Arg
NM_001136114.2:c.1073A>G NP_001129586.1:p.Lys358Arg
NM_001353193.2:c.1490A>G NP_001340122.2:p.Lys497Arg
NM_001353194.2:c.1262A>G NP_001340123.1:p.Lys421Arg
NM_001353195.2:c.1073A>G NP_001340124.1:p.Lys358Arg
NM_001353196.2:c.1334A>G NP_001340125.1:p.Lys445Arg
NM_001353197.2:c.1328A>G NP_001340126.2:p.Lys443Arg
NM_001353198.2:c.1328A>G NP_001340127.2:p.Lys443Arg
NM_001353199.2:c.1139A>G NP_001340128.2:p.Lys380Arg
NM_001353200.2:c.968A>G NP_001340129.1:p.Lys323Arg
NM_001374689.1:c.1412A>G NP_001361618.1:p.Lys471Arg
NM_001374690.1:c.1365+358A>G NP_001361619.1:n.1365+358A>G
NM_001374691.1:c.1073A>G NP_001361620.1:p.Lys358Arg
NM_001374692.1:c.1073A>G NP_001361621.1:p.Lys358Arg
NM_001374693.1:c.1073A>G NP_001361622.1:p.Lys358Arg
NM_001374695.1:c.1034A>G NP_001361624.1:p.Lys345Arg
NM_007171.4:c.1490A>G NP_009102.4:p.Lys497Arg
NR_148391.2:n.1458A>G
NR_148392.2:n.1676A>G
NR_148393.2:n.1597A>G
NR_148394.2:n.1351A>G
NR_148395.2:n.1749A>G
NR_148396.2:n.1383A>G
NR_148397.2:n.1508A>G
NR_148398.2:n.1463A>G
NR_148399.2:n.1989A>G
NR_148400.2:n.1588A>G