Canonical Allele Identifier: CA375311929
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518892A>G , CM000671.2:g.131518892A>G GRCh38
NC_000009.11:g.134394279A>G , CM000671.1:g.134394279A>G GRCh37
NC_000009.10:g.133384100A>G NCBI36
NG_008896.1:g.20991A>G
NG_008896.2:g.20991A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1259A>G ENSP00000343034.7:p.Glu420Gly
ENST00000404875.7:n.1961A>G
ENST00000423007.6:c.1478A>G ENSP00000404119.2:p.Glu493Gly
ENST00000677295.2:c.*1765A>G ENSP00000504346.2:n.*1765A>G
ENST00000678264.2:c.*1604A>G ENSP00000503157.2:n.*1604A>G
ENST00000682070.1:n.1886A>G
ENST00000682539.1:c.359A>G
ENST00000682813.1:n.1825A>G
ENST00000683392.1:n.4168A>G
ENST00000683712.1:n.1826A>G
ENST00000683900.1:n.3321A>G
ENST00000684062.1:n.2087A>G
ENST00000684579.1:n.3267A>G
ENST00000684679.1:n.648A>G
ENST00000341012.12:c.1259A>G ENSP00000343034.7:p.Glu420Gly
ENST00000372220.5:c.290A>G ENSP00000361294.5:p.Glu97Gly
ENST00000372228.9:c.1487A>G ENSP00000361302.3:p.Glu496Gly
ENST00000402686.8:c.1421A>G MANE Select ENSP00000385797.4:p.Glu474Gly
ENST00000676640.1:c.1421A>G ENSP00000503281.1:p.Glu474Gly
ENST00000676803.1:c.596A>G ENSP00000503093.1:p.Glu199Gly
ENST00000676835.1:c.*636A>G ENSP00000502911.1:n.*636A>G
ENST00000677029.1:c.965A>G ENSP00000502936.1:p.Glu322Gly
ENST00000677099.1:c.*1131A>G ENSP00000504553.1:n.*1131A>G
ENST00000677216.1:c.1070A>G ENSP00000503772.1:p.Glu357Gly
ENST00000677221.1:n.446A>G
ENST00000677295.1:c.*798A>G ENSP00000504346.1:n.*798A>G
ENST00000677444.1:c.1366A>G
ENST00000677586.1:n.902A>G
ENST00000677626.1:c.1070A>G ENSP00000503552.1:p.Glu357Gly
ENST00000677677.1:n.1381A>G
ENST00000677853.1:c.*429A>G ENSP00000503488.1:n.*429A>G
ENST00000678202.1:n.580A>G
ENST00000678264.1:c.*798A>G ENSP00000503157.1:n.*798A>G
ENST00000678303.1:c.1331A>G ENSP00000503696.1:p.Glu444Gly
ENST00000678366.1:c.*1670A>G ENSP00000504353.1:n.*1670A>G
ENST00000678546.1:c.*1366A>G ENSP00000503062.1:n.*1366A>G
ENST00000678548.1:c.*1493A>G ENSP00000503934.1:n.*1493A>G
ENST00000678626.1:n.1257A>G
ENST00000678733.1:c.502A>G
ENST00000678739.1:c.*1747A>G ENSP00000503806.1:n.*1747A>G
ENST00000678833.1:c.*868A>G ENSP00000503893.1:n.*868A>G
ENST00000679023.1:c.1259A>G ENSP00000503718.1:p.Glu420Gly
ENST00000679076.1:c.1040A>G
ENST00000679111.1:c.*177A>G ENSP00000504257.1:n.*177A>G
ENST00000679189.1:c.1070A>G ENSP00000503356.1:p.Glu357Gly
ENST00000341012.11:c.1259A>G ENSP00000343034.7:p.Glu420Gly
ENST00000372220.4:c.284A>G ENSP00000361294.4:p.Glu95Gly
ENST00000372228.7:c.1487A>G ENSP00000361302.3:p.Glu496Gly
ENST00000402686.7:c.1421A>G ENSP00000385797.3:p.Glu474Gly
ENST00000404875.6:c.1070A>G ENSP00000384531.2:p.Glu357Gly
ENST00000423007.5:c.1421A>G ENSP00000404119.1:p.Glu474Gly
ENST00000467848.1:n.125A>G
ENST00000485278.5:n.1976A>G
NM_001077365.1:c.1421A>G NP_001070833.1:p.Glu474Gly
NM_001077366.1:c.1259A>G NP_001070834.1:p.Glu420Gly
NM_001136113.1:c.1421A>G NP_001129585.1:p.Glu474Gly
NM_001136114.1:c.1070A>G NP_001129586.1:p.Glu357Gly
NM_007171.3:c.1487A>G NP_009102.3:p.Glu496Gly
XM_005272156.1:c.1487A>G XP_005272213.1:p.Glu496Gly
XM_005272158.1:c.1325A>G XP_005272215.1:p.Glu442Gly
XM_005272159.1:c.1136A>G XP_005272216.1:p.Glu379Gly
XM_005272162.1:c.290A>G XP_005272219.1:p.Glu97Gly
XM_006716932.1:c.1136A>G XP_006716995.1:p.Glu379Gly
XM_011518140.1:c.1340A>G XP_011516442.1:p.Glu447Gly
XM_011518141.1:c.1274A>G XP_011516443.1:p.Glu425Gly
XM_011518142.1:c.1178A>G XP_011516444.1:p.Glu393Gly
XM_011518143.1:c.1172A>G XP_011516445.1:p.Glu391Gly
XM_011518145.1:c.1031A>G XP_011516447.1:p.Glu344Gly
XM_011518147.1:c.359A>G XP_011516449.1:p.Glu120Gly
XR_929703.1:n.1663A>G
NM_001353193.1:c.1487A>G NP_001340122.1:p.Glu496Gly
NM_001353194.1:c.1259A>G NP_001340123.1:p.Glu420Gly
NM_001353195.1:c.1070A>G NP_001340124.1:p.Glu357Gly
NM_001353196.1:c.1331A>G NP_001340125.1:p.Glu444Gly
NM_001353197.1:c.1325A>G NP_001340126.1:p.Glu442Gly
NM_001353198.1:c.1325A>G NP_001340127.1:p.Glu442Gly
NM_001353199.1:c.1136A>G NP_001340128.1:p.Glu379Gly
NM_001353200.1:c.965A>G NP_001340129.1:p.Glu322Gly
NR_148391.1:n.1471A>G
NR_148392.1:n.1689A>G
NR_148393.1:n.1610A>G
NR_148394.1:n.1364A>G
NR_148395.1:n.1762A>G
NR_148396.1:n.1396A>G
NR_148397.1:n.1521A>G
NR_148398.1:n.1476A>G
NR_148399.1:n.2002A>G
NR_148400.1:n.1601A>G
XM_005272162.3:c.290A>G XP_005272219.1:p.Glu97Gly
XM_006716932.2:c.1136A>G XP_006716995.1:p.Glu379Gly
XM_011518140.2:c.1340A>G XP_011516442.1:p.Glu447Gly
XM_011518141.2:c.1274A>G XP_011516443.1:p.Glu425Gly
XM_011518142.2:c.1178A>G XP_011516444.1:p.Glu393Gly
XM_011518143.2:c.1172A>G XP_011516445.1:p.Glu391Gly
XM_011518145.2:c.1031A>G XP_011516447.1:p.Glu344Gly
XM_017014205.2:c.290A>G XP_016869694.1:p.Glu97Gly
XM_024447380.1:c.290A>G XP_024303148.1:p.Glu97Gly
XM_024447381.1:c.596A>G XP_024303149.1:p.Glu199Gly
XM_024447382.1:c.290A>G XP_024303150.1:p.Glu97Gly
XR_001746160.2:n.1591A>G
XR_001746162.2:n.1796A>G
XR_001746164.1:n.1513A>G
XR_001746166.2:n.1808A>G
NM_001077365.2:c.1421A>G MANE Select NP_001070833.1:p.Glu474Gly
NM_001077366.2:c.1259A>G NP_001070834.1:p.Glu420Gly
NM_001136113.2:c.1421A>G NP_001129585.1:p.Glu474Gly
NM_001136114.2:c.1070A>G NP_001129586.1:p.Glu357Gly
NM_001353193.2:c.1487A>G NP_001340122.2:p.Glu496Gly
NM_001353194.2:c.1259A>G NP_001340123.1:p.Glu420Gly
NM_001353195.2:c.1070A>G NP_001340124.1:p.Glu357Gly
NM_001353196.2:c.1331A>G NP_001340125.1:p.Glu444Gly
NM_001353197.2:c.1325A>G NP_001340126.2:p.Glu442Gly
NM_001353198.2:c.1325A>G NP_001340127.2:p.Glu442Gly
NM_001353199.2:c.1136A>G NP_001340128.2:p.Glu379Gly
NM_001353200.2:c.965A>G NP_001340129.1:p.Glu322Gly
NM_001374689.1:c.1409A>G NP_001361618.1:p.Glu470Gly
NM_001374690.1:c.1365+355A>G NP_001361619.1:n.1365+355A>G
NM_001374691.1:c.1070A>G NP_001361620.1:p.Glu357Gly
NM_001374692.1:c.1070A>G NP_001361621.1:p.Glu357Gly
NM_001374693.1:c.1070A>G NP_001361622.1:p.Glu357Gly
NM_001374695.1:c.1031A>G NP_001361624.1:p.Glu344Gly
NM_007171.4:c.1487A>G NP_009102.4:p.Glu496Gly
NR_148391.2:n.1455A>G
NR_148392.2:n.1673A>G
NR_148393.2:n.1594A>G
NR_148394.2:n.1348A>G
NR_148395.2:n.1746A>G
NR_148396.2:n.1380A>G
NR_148397.2:n.1505A>G
NR_148398.2:n.1460A>G
NR_148399.2:n.1986A>G
NR_148400.2:n.1585A>G