Canonical Allele Identifier: CA375311893
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518882A>G , CM000671.2:g.131518882A>G GRCh38
NC_000009.11:g.134394269A>G , CM000671.1:g.134394269A>G GRCh37
NC_000009.10:g.133384090A>G NCBI36
NG_008896.1:g.20981A>G
NG_008896.2:g.20981A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1249A>G ENSP00000343034.7:p.Ile417Val
ENST00000404875.7:n.1951A>G
ENST00000423007.6:c.1468A>G ENSP00000404119.2:p.Ile490Val
ENST00000677295.2:c.*1755A>G ENSP00000504346.2:n.*1755A>G
ENST00000678264.2:c.*1594A>G ENSP00000503157.2:n.*1594A>G
ENST00000682070.1:n.1876A>G
ENST00000682539.1:c.349A>G
ENST00000682813.1:n.1815A>G
ENST00000683392.1:n.4158A>G
ENST00000683712.1:n.1816A>G
ENST00000683900.1:n.3311A>G
ENST00000684062.1:n.2077A>G
ENST00000684579.1:n.3257A>G
ENST00000684679.1:n.638A>G
ENST00000341012.12:c.1249A>G ENSP00000343034.7:p.Ile417Val
ENST00000372220.5:c.280A>G ENSP00000361294.5:p.Ile94Val
ENST00000372228.9:c.1477A>G ENSP00000361302.3:p.Ile493Val
ENST00000402686.8:c.1411A>G MANE Select ENSP00000385797.4:p.Ile471Val
ENST00000676640.1:c.1411A>G ENSP00000503281.1:p.Ile471Val
ENST00000676803.1:c.586A>G ENSP00000503093.1:p.Ile196Val
ENST00000676835.1:c.*626A>G ENSP00000502911.1:n.*626A>G
ENST00000677029.1:c.955A>G ENSP00000502936.1:p.Ile319Val
ENST00000677099.1:c.*1121A>G ENSP00000504553.1:n.*1121A>G
ENST00000677216.1:c.1060A>G ENSP00000503772.1:p.Ile354Val
ENST00000677221.1:n.436A>G
ENST00000677295.1:c.*788A>G ENSP00000504346.1:n.*788A>G
ENST00000677444.1:c.1356A>G
ENST00000677586.1:n.892A>G
ENST00000677626.1:c.1060A>G ENSP00000503552.1:p.Ile354Val
ENST00000677677.1:n.1371A>G
ENST00000677853.1:c.*419A>G ENSP00000503488.1:n.*419A>G
ENST00000678202.1:n.570A>G
ENST00000678264.1:c.*788A>G ENSP00000503157.1:n.*788A>G
ENST00000678303.1:c.1321A>G ENSP00000503696.1:p.Ile441Val
ENST00000678366.1:c.*1660A>G ENSP00000504353.1:n.*1660A>G
ENST00000678546.1:c.*1356A>G ENSP00000503062.1:n.*1356A>G
ENST00000678548.1:c.*1483A>G ENSP00000503934.1:n.*1483A>G
ENST00000678626.1:n.1247A>G
ENST00000678733.1:c.492A>G
ENST00000678739.1:c.*1737A>G ENSP00000503806.1:n.*1737A>G
ENST00000678833.1:c.*858A>G ENSP00000503893.1:n.*858A>G
ENST00000679023.1:c.1249A>G ENSP00000503718.1:p.Ile417Val
ENST00000679076.1:c.1030A>G
ENST00000679111.1:c.*167A>G ENSP00000504257.1:n.*167A>G
ENST00000679189.1:c.1060A>G ENSP00000503356.1:p.Ile354Val
ENST00000341012.11:c.1249A>G ENSP00000343034.7:p.Ile417Val
ENST00000372220.4:c.274A>G ENSP00000361294.4:p.Ile92Val
ENST00000372228.7:c.1477A>G ENSP00000361302.3:p.Ile493Val
ENST00000402686.7:c.1411A>G ENSP00000385797.3:p.Ile471Val
ENST00000404875.6:c.1060A>G ENSP00000384531.2:p.Ile354Val
ENST00000423007.5:c.1411A>G ENSP00000404119.1:p.Ile471Val
ENST00000467848.1:n.115A>G
ENST00000485278.5:n.1966A>G
NM_001077365.1:c.1411A>G NP_001070833.1:p.Ile471Val
NM_001077366.1:c.1249A>G NP_001070834.1:p.Ile417Val
NM_001136113.1:c.1411A>G NP_001129585.1:p.Ile471Val
NM_001136114.1:c.1060A>G NP_001129586.1:p.Ile354Val
NM_007171.3:c.1477A>G NP_009102.3:p.Ile493Val
XM_005272156.1:c.1477A>G XP_005272213.1:p.Ile493Val
XM_005272158.1:c.1315A>G XP_005272215.1:p.Ile439Val
XM_005272159.1:c.1126A>G XP_005272216.1:p.Ile376Val
XM_005272162.1:c.280A>G XP_005272219.1:p.Ile94Val
XM_006716932.1:c.1126A>G XP_006716995.1:p.Ile376Val
XM_011518140.1:c.1330A>G XP_011516442.1:p.Ile444Val
XM_011518141.1:c.1264A>G XP_011516443.1:p.Ile422Val
XM_011518142.1:c.1168A>G XP_011516444.1:p.Ile390Val
XM_011518143.1:c.1162A>G XP_011516445.1:p.Ile388Val
XM_011518144.1:c.*167A>G XP_011516446.1:n.*167A>G
XM_011518145.1:c.1021A>G XP_011516447.1:p.Ile341Val
XM_011518146.1:c.*167A>G XP_011516448.1:n.*167A>G
XM_011518147.1:c.349A>G XP_011516449.1:p.Ile117Val
XR_929703.1:n.1653A>G
NM_001353193.1:c.1477A>G NP_001340122.1:p.Ile493Val
NM_001353194.1:c.1249A>G NP_001340123.1:p.Ile417Val
NM_001353195.1:c.1060A>G NP_001340124.1:p.Ile354Val
NM_001353196.1:c.1321A>G NP_001340125.1:p.Ile441Val
NM_001353197.1:c.1315A>G NP_001340126.1:p.Ile439Val
NM_001353198.1:c.1315A>G NP_001340127.1:p.Ile439Val
NM_001353199.1:c.1126A>G NP_001340128.1:p.Ile376Val
NM_001353200.1:c.955A>G NP_001340129.1:p.Ile319Val
NR_148391.1:n.1461A>G
NR_148392.1:n.1679A>G
NR_148393.1:n.1600A>G
NR_148394.1:n.1354A>G
NR_148395.1:n.1752A>G
NR_148396.1:n.1386A>G
NR_148397.1:n.1511A>G
NR_148398.1:n.1466A>G
NR_148399.1:n.1992A>G
NR_148400.1:n.1591A>G
XM_005272162.3:c.280A>G XP_005272219.1:p.Ile94Val
XM_006716932.2:c.1126A>G XP_006716995.1:p.Ile376Val
XM_011518140.2:c.1330A>G XP_011516442.1:p.Ile444Val
XM_011518141.2:c.1264A>G XP_011516443.1:p.Ile422Val
XM_011518142.2:c.1168A>G XP_011516444.1:p.Ile390Val
XM_011518143.2:c.1162A>G XP_011516445.1:p.Ile388Val
XM_011518145.2:c.1021A>G XP_011516447.1:p.Ile341Val
XM_017014205.2:c.280A>G XP_016869694.1:p.Ile94Val
XM_024447380.1:c.280A>G XP_024303148.1:p.Ile94Val
XM_024447381.1:c.586A>G XP_024303149.1:p.Ile196Val
XM_024447382.1:c.280A>G XP_024303150.1:p.Ile94Val
XR_001746160.2:n.1581A>G
XR_001746162.2:n.1786A>G
XR_001746164.1:n.1503A>G
XR_001746166.2:n.1798A>G
NM_001077365.2:c.1411A>G MANE Select NP_001070833.1:p.Ile471Val
NM_001077366.2:c.1249A>G NP_001070834.1:p.Ile417Val
NM_001136113.2:c.1411A>G NP_001129585.1:p.Ile471Val
NM_001136114.2:c.1060A>G NP_001129586.1:p.Ile354Val
NM_001353193.2:c.1477A>G NP_001340122.2:p.Ile493Val
NM_001353194.2:c.1249A>G NP_001340123.1:p.Ile417Val
NM_001353195.2:c.1060A>G NP_001340124.1:p.Ile354Val
NM_001353196.2:c.1321A>G NP_001340125.1:p.Ile441Val
NM_001353197.2:c.1315A>G NP_001340126.2:p.Ile439Val
NM_001353198.2:c.1315A>G NP_001340127.2:p.Ile439Val
NM_001353199.2:c.1126A>G NP_001340128.2:p.Ile376Val
NM_001353200.2:c.955A>G NP_001340129.1:p.Ile319Val
NM_001374689.1:c.1399A>G NP_001361618.1:p.Ile467Val
NM_001374690.1:c.1365+345A>G NP_001361619.1:n.1365+345A>G
NM_001374691.1:c.1060A>G NP_001361620.1:p.Ile354Val
NM_001374692.1:c.1060A>G NP_001361621.1:p.Ile354Val
NM_001374693.1:c.1060A>G NP_001361622.1:p.Ile354Val
NM_001374695.1:c.1021A>G NP_001361624.1:p.Ile341Val
NM_007171.4:c.1477A>G NP_009102.4:p.Ile493Val
NR_148391.2:n.1445A>G
NR_148392.2:n.1663A>G
NR_148393.2:n.1584A>G
NR_148394.2:n.1338A>G
NR_148395.2:n.1736A>G
NR_148396.2:n.1370A>G
NR_148397.2:n.1495A>G
NR_148398.2:n.1450A>G
NR_148399.2:n.1976A>G
NR_148400.2:n.1575A>G