Canonical Allele Identifier: CA375311988
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518910A>C , CM000671.2:g.131518910A>C GRCh38
NC_000009.11:g.134394297A>C , CM000671.1:g.134394297A>C GRCh37
NC_000009.10:g.133384118A>C NCBI36
NG_008896.1:g.21009A>C
NG_008896.2:g.21009A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1277A>C ENSP00000343034.7:p.Tyr426Ser
ENST00000404875.7:n.1979A>C
ENST00000423007.6:c.1496A>C ENSP00000404119.2:p.Tyr499Ser
ENST00000677295.2:c.*1783A>C ENSP00000504346.2:n.*1783A>C
ENST00000678264.2:c.*1622A>C ENSP00000503157.2:n.*1622A>C
ENST00000682070.1:n.1904A>C
ENST00000682539.1:c.377A>C
ENST00000682813.1:n.1843A>C
ENST00000683392.1:n.4186A>C
ENST00000683712.1:n.1844A>C
ENST00000683900.1:n.3339A>C
ENST00000684062.1:n.2105A>C
ENST00000684579.1:n.3285A>C
ENST00000684679.1:n.666A>C
ENST00000341012.12:c.1277A>C ENSP00000343034.7:p.Tyr426Ser
ENST00000372220.5:c.308A>C ENSP00000361294.5:p.Tyr103Ser
ENST00000372228.9:c.1505A>C ENSP00000361302.3:p.Tyr502Ser
ENST00000402686.8:c.1439A>C MANE Select ENSP00000385797.4:p.Tyr480Ser
ENST00000676640.1:c.1439A>C ENSP00000503281.1:p.Tyr480Ser
ENST00000676803.1:c.614A>C ENSP00000503093.1:p.Tyr205Ser
ENST00000676835.1:c.*654A>C ENSP00000502911.1:n.*654A>C
ENST00000677029.1:c.983A>C ENSP00000502936.1:p.Tyr328Ser
ENST00000677099.1:c.*1149A>C ENSP00000504553.1:n.*1149A>C
ENST00000677216.1:c.1088A>C ENSP00000503772.1:p.Tyr363Ser
ENST00000677221.1:n.464A>C
ENST00000677295.1:c.*816A>C ENSP00000504346.1:n.*816A>C
ENST00000677444.1:c.1384A>C
ENST00000677586.1:n.920A>C
ENST00000677626.1:c.1088A>C ENSP00000503552.1:p.Tyr363Ser
ENST00000677677.1:n.1399A>C
ENST00000677853.1:c.*447A>C ENSP00000503488.1:n.*447A>C
ENST00000678202.1:n.598A>C
ENST00000678264.1:c.*816A>C ENSP00000503157.1:n.*816A>C
ENST00000678303.1:c.1349A>C ENSP00000503696.1:p.Tyr450Ser
ENST00000678366.1:c.*1688A>C ENSP00000504353.1:n.*1688A>C
ENST00000678546.1:c.*1384A>C ENSP00000503062.1:n.*1384A>C
ENST00000678548.1:c.*1511A>C ENSP00000503934.1:n.*1511A>C
ENST00000678626.1:n.1275A>C
ENST00000678733.1:c.520A>C
ENST00000678739.1:c.*1765A>C ENSP00000503806.1:n.*1765A>C
ENST00000678833.1:c.*886A>C ENSP00000503893.1:n.*886A>C
ENST00000679023.1:c.1277A>C ENSP00000503718.1:p.Tyr426Ser
ENST00000679076.1:c.1058A>C
ENST00000679111.1:c.*195A>C ENSP00000504257.1:n.*195A>C
ENST00000679189.1:c.1088A>C ENSP00000503356.1:p.Tyr363Ser
ENST00000341012.11:c.1277A>C ENSP00000343034.7:p.Tyr426Ser
ENST00000372220.4:c.302A>C ENSP00000361294.4:p.Tyr101Ser
ENST00000372228.7:c.1505A>C ENSP00000361302.3:p.Tyr502Ser
ENST00000402686.7:c.1439A>C ENSP00000385797.3:p.Tyr480Ser
ENST00000404875.6:c.1088A>C ENSP00000384531.2:p.Tyr363Ser
ENST00000423007.5:c.1439A>C ENSP00000404119.1:p.Tyr480Ser
ENST00000467848.1:n.143A>C
ENST00000485278.5:n.1994A>C
NM_001077365.1:c.1439A>C NP_001070833.1:p.Tyr480Ser
NM_001077366.1:c.1277A>C NP_001070834.1:p.Tyr426Ser
NM_001136113.1:c.1439A>C NP_001129585.1:p.Tyr480Ser
NM_001136114.1:c.1088A>C NP_001129586.1:p.Tyr363Ser
NM_007171.3:c.1505A>C NP_009102.3:p.Tyr502Ser
XM_005272156.1:c.1505A>C XP_005272213.1:p.Tyr502Ser
XM_005272158.1:c.1343A>C XP_005272215.1:p.Tyr448Ser
XM_005272159.1:c.1154A>C XP_005272216.1:p.Tyr385Ser
XM_005272162.1:c.308A>C XP_005272219.1:p.Tyr103Ser
XM_006716932.1:c.1154A>C XP_006716995.1:p.Tyr385Ser
XM_011518140.1:c.1358A>C XP_011516442.1:p.Tyr453Ser
XM_011518141.1:c.1292A>C XP_011516443.1:p.Tyr431Ser
XM_011518142.1:c.1196A>C XP_011516444.1:p.Tyr399Ser
XM_011518143.1:c.1190A>C XP_011516445.1:p.Tyr397Ser
XM_011518145.1:c.1049A>C XP_011516447.1:p.Tyr350Ser
XM_011518147.1:c.377A>C XP_011516449.1:p.Tyr126Ser
XR_929703.1:n.1681A>C
NM_001353193.1:c.1505A>C NP_001340122.1:p.Tyr502Ser
NM_001353194.1:c.1277A>C NP_001340123.1:p.Tyr426Ser
NM_001353195.1:c.1088A>C NP_001340124.1:p.Tyr363Ser
NM_001353196.1:c.1349A>C NP_001340125.1:p.Tyr450Ser
NM_001353197.1:c.1343A>C NP_001340126.1:p.Tyr448Ser
NM_001353198.1:c.1343A>C NP_001340127.1:p.Tyr448Ser
NM_001353199.1:c.1154A>C NP_001340128.1:p.Tyr385Ser
NM_001353200.1:c.983A>C NP_001340129.1:p.Tyr328Ser
NR_148391.1:n.1489A>C
NR_148392.1:n.1707A>C
NR_148393.1:n.1628A>C
NR_148394.1:n.1382A>C
NR_148395.1:n.1780A>C
NR_148396.1:n.1414A>C
NR_148397.1:n.1539A>C
NR_148398.1:n.1494A>C
NR_148399.1:n.2020A>C
NR_148400.1:n.1619A>C
XM_005272162.3:c.308A>C XP_005272219.1:p.Tyr103Ser
XM_006716932.2:c.1154A>C XP_006716995.1:p.Tyr385Ser
XM_011518140.2:c.1358A>C XP_011516442.1:p.Tyr453Ser
XM_011518141.2:c.1292A>C XP_011516443.1:p.Tyr431Ser
XM_011518142.2:c.1196A>C XP_011516444.1:p.Tyr399Ser
XM_011518143.2:c.1190A>C XP_011516445.1:p.Tyr397Ser
XM_011518145.2:c.1049A>C XP_011516447.1:p.Tyr350Ser
XM_017014205.2:c.308A>C XP_016869694.1:p.Tyr103Ser
XM_024447380.1:c.308A>C XP_024303148.1:p.Tyr103Ser
XM_024447381.1:c.614A>C XP_024303149.1:p.Tyr205Ser
XM_024447382.1:c.308A>C XP_024303150.1:p.Tyr103Ser
XR_001746160.2:n.1609A>C
XR_001746162.2:n.1814A>C
XR_001746164.1:n.1531A>C
XR_001746166.2:n.1826A>C
NM_001077365.2:c.1439A>C MANE Select NP_001070833.1:p.Tyr480Ser
NM_001077366.2:c.1277A>C NP_001070834.1:p.Tyr426Ser
NM_001136113.2:c.1439A>C NP_001129585.1:p.Tyr480Ser
NM_001136114.2:c.1088A>C NP_001129586.1:p.Tyr363Ser
NM_001353193.2:c.1505A>C NP_001340122.2:p.Tyr502Ser
NM_001353194.2:c.1277A>C NP_001340123.1:p.Tyr426Ser
NM_001353195.2:c.1088A>C NP_001340124.1:p.Tyr363Ser
NM_001353196.2:c.1349A>C NP_001340125.1:p.Tyr450Ser
NM_001353197.2:c.1343A>C NP_001340126.2:p.Tyr448Ser
NM_001353198.2:c.1343A>C NP_001340127.2:p.Tyr448Ser
NM_001353199.2:c.1154A>C NP_001340128.2:p.Tyr385Ser
NM_001353200.2:c.983A>C NP_001340129.1:p.Tyr328Ser
NM_001374689.1:c.1427A>C NP_001361618.1:p.Tyr476Ser
NM_001374690.1:c.1365+373A>C NP_001361619.1:n.1365+373A>C
NM_001374691.1:c.1088A>C NP_001361620.1:p.Tyr363Ser
NM_001374692.1:c.1088A>C NP_001361621.1:p.Tyr363Ser
NM_001374693.1:c.1088A>C NP_001361622.1:p.Tyr363Ser
NM_001374695.1:c.1049A>C NP_001361624.1:p.Tyr350Ser
NM_007171.4:c.1505A>C NP_009102.4:p.Tyr502Ser
NR_148391.2:n.1473A>C
NR_148392.2:n.1691A>C
NR_148393.2:n.1612A>C
NR_148394.2:n.1366A>C
NR_148395.2:n.1764A>C
NR_148396.2:n.1398A>C
NR_148397.2:n.1523A>C
NR_148398.2:n.1478A>C
NR_148399.2:n.2004A>C
NR_148400.2:n.1603A>C