Canonical Allele Identifier: CA375311059
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1224261160

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518446A>G , CM000671.2:g.131518446A>G GRCh38
NC_000009.11:g.134393833A>G , CM000671.1:g.134393833A>G GRCh37
NC_000009.10:g.133383654A>G NCBI36
NG_008896.1:g.20545A>G
NG_008896.2:g.20545A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1112A>G ENSP00000343034.7:p.Glu371Gly
ENST00000404875.7:n.1814A>G
ENST00000423007.6:c.1331A>G ENSP00000404119.2:p.Glu444Gly
ENST00000677295.2:c.*1618A>G ENSP00000504346.2:n.*1618A>G
ENST00000678264.2:c.*1457A>G ENSP00000503157.2:n.*1457A>G
ENST00000682070.1:n.1739A>G
ENST00000682535.1:n.46A>G
ENST00000682539.1:c.212A>G
ENST00000682813.1:n.1539A>G
ENST00000683110.1:n.2A>G
ENST00000683392.1:n.4021A>G
ENST00000683712.1:n.1679A>G
ENST00000683900.1:n.3174A>G
ENST00000684062.1:n.1940A>G
ENST00000684579.1:n.3120A>G
ENST00000684679.1:n.501A>G
ENST00000341012.12:c.1112A>G ENSP00000343034.7:p.Glu371Gly
ENST00000372220.5:c.143A>G ENSP00000361294.5:p.Glu48Gly
ENST00000372228.9:c.1340A>G ENSP00000361302.3:p.Glu447Gly
ENST00000402686.8:c.1274A>G MANE Select ENSP00000385797.4:p.Glu425Gly
ENST00000676640.1:c.1274A>G ENSP00000503281.1:p.Glu425Gly
ENST00000676803.1:c.449A>G ENSP00000503093.1:p.Glu150Gly
ENST00000676835.1:c.*489A>G ENSP00000502911.1:n.*489A>G
ENST00000677029.1:c.818A>G ENSP00000502936.1:p.Glu273Gly
ENST00000677099.1:c.*984A>G ENSP00000504553.1:n.*984A>G
ENST00000677216.1:c.923A>G ENSP00000503772.1:p.Glu308Gly
ENST00000677221.1:n.299A>G
ENST00000677295.1:c.*651A>G ENSP00000504346.1:n.*651A>G
ENST00000677444.1:c.1080A>G
ENST00000677586.1:n.755A>G
ENST00000677626.1:c.923A>G ENSP00000503552.1:p.Glu308Gly
ENST00000677677.1:n.1234A>G
ENST00000677853.1:c.*282A>G ENSP00000503488.1:n.*282A>G
ENST00000677944.1:c.536A>G
ENST00000677983.1:n.363A>G
ENST00000678202.1:n.294A>G
ENST00000678264.1:c.*651A>G ENSP00000503157.1:n.*651A>G
ENST00000678303.1:c.1184A>G ENSP00000503696.1:p.Glu395Gly
ENST00000678366.1:c.*1523A>G ENSP00000504353.1:n.*1523A>G
ENST00000678546.1:c.*1219A>G ENSP00000503062.1:n.*1219A>G
ENST00000678548.1:c.*1346A>G ENSP00000503934.1:n.*1346A>G
ENST00000678626.1:n.971A>G
ENST00000678733.1:c.355A>G
ENST00000678739.1:c.*1600A>G ENSP00000503806.1:n.*1600A>G
ENST00000678795.1:n.361A>G
ENST00000678833.1:c.*721A>G ENSP00000503893.1:n.*721A>G
ENST00000678942.1:c.454A>G ENSP00000504690.1:n.454A>G
ENST00000679023.1:c.1112A>G ENSP00000503718.1:p.Glu371Gly
ENST00000679076.1:c.893A>G
ENST00000679111.1:c.1274A>G ENSP00000504257.1:p.Glu425Gly
ENST00000679189.1:c.923A>G ENSP00000503356.1:p.Glu308Gly
ENST00000341012.11:c.1112A>G ENSP00000343034.7:p.Glu371Gly
ENST00000372220.4:c.137A>G ENSP00000361294.4:p.Glu46Gly
ENST00000372228.7:c.1340A>G ENSP00000361302.3:p.Glu447Gly
ENST00000402686.7:c.1274A>G ENSP00000385797.3:p.Glu425Gly
ENST00000404875.6:c.923A>G ENSP00000384531.2:p.Glu308Gly
ENST00000423007.5:c.1274A>G ENSP00000404119.1:p.Glu425Gly
ENST00000485278.5:n.1829A>G
NM_001077365.1:c.1274A>G NP_001070833.1:p.Glu425Gly
NM_001077366.1:c.1112A>G NP_001070834.1:p.Glu371Gly
NM_001136113.1:c.1274A>G NP_001129585.1:p.Glu425Gly
NM_001136114.1:c.923A>G NP_001129586.1:p.Glu308Gly
NM_007171.3:c.1340A>G NP_009102.3:p.Glu447Gly
XM_005272156.1:c.1340A>G XP_005272213.1:p.Glu447Gly
XM_005272158.1:c.1178A>G XP_005272215.1:p.Glu393Gly
XM_005272159.1:c.989A>G XP_005272216.1:p.Glu330Gly
XM_005272162.1:c.143A>G XP_005272219.1:p.Glu48Gly
XM_006716932.1:c.989A>G XP_006716995.1:p.Glu330Gly
XM_011518140.1:c.1193A>G XP_011516442.1:p.Glu398Gly
XM_011518141.1:c.1127A>G XP_011516443.1:p.Glu376Gly
XM_011518142.1:c.1031A>G XP_011516444.1:p.Glu344Gly
XM_011518143.1:c.1025A>G XP_011516445.1:p.Glu342Gly
XM_011518144.1:c.1340A>G XP_011516446.1:p.Glu447Gly
XM_011518145.1:c.884A>G XP_011516447.1:p.Glu295Gly
XM_011518146.1:c.1025A>G XP_011516448.1:p.Glu342Gly
XM_011518147.1:c.212A>G XP_011516449.1:p.Glu71Gly
XR_929703.1:n.1516A>G
NM_001353193.1:c.1340A>G NP_001340122.1:p.Glu447Gly
NM_001353194.1:c.1112A>G NP_001340123.1:p.Glu371Gly
NM_001353195.1:c.923A>G NP_001340124.1:p.Glu308Gly
NM_001353196.1:c.1184A>G NP_001340125.1:p.Glu395Gly
NM_001353197.1:c.1178A>G NP_001340126.1:p.Glu393Gly
NM_001353198.1:c.1178A>G NP_001340127.1:p.Glu393Gly
NM_001353199.1:c.989A>G NP_001340128.1:p.Glu330Gly
NM_001353200.1:c.818A>G NP_001340129.1:p.Glu273Gly
NR_148391.1:n.1324A>G
NR_148392.1:n.1542A>G
NR_148393.1:n.1324A>G
NR_148394.1:n.1217A>G
NR_148395.1:n.1476A>G
NR_148396.1:n.1110A>G
NR_148397.1:n.1374A>G
NR_148398.1:n.1329A>G
NR_148399.1:n.1716A>G
NR_148400.1:n.1315A>G
XM_005272162.3:c.143A>G XP_005272219.1:p.Glu48Gly
XM_006716932.2:c.989A>G XP_006716995.1:p.Glu330Gly
XM_011518140.2:c.1193A>G XP_011516442.1:p.Glu398Gly
XM_011518141.2:c.1127A>G XP_011516443.1:p.Glu376Gly
XM_011518142.2:c.1031A>G XP_011516444.1:p.Glu344Gly
XM_011518143.2:c.1025A>G XP_011516445.1:p.Glu342Gly
XM_011518145.2:c.884A>G XP_011516447.1:p.Glu295Gly
XM_017014205.2:c.143A>G XP_016869694.1:p.Glu48Gly
XM_024447380.1:c.143A>G XP_024303148.1:p.Glu48Gly
XM_024447381.1:c.449A>G XP_024303149.1:p.Glu150Gly
XM_024447382.1:c.143A>G XP_024303150.1:p.Glu48Gly
XR_001746160.2:n.1444A>G
XR_001746162.2:n.1510A>G
XR_001746164.1:n.1227A>G
XR_001746166.2:n.1661A>G
NM_001077365.2:c.1274A>G MANE Select NP_001070833.1:p.Glu425Gly
NM_001077366.2:c.1112A>G NP_001070834.1:p.Glu371Gly
NM_001136113.2:c.1274A>G NP_001129585.1:p.Glu425Gly
NM_001136114.2:c.923A>G NP_001129586.1:p.Glu308Gly
NM_001353193.2:c.1340A>G NP_001340122.2:p.Glu447Gly
NM_001353194.2:c.1112A>G NP_001340123.1:p.Glu371Gly
NM_001353195.2:c.923A>G NP_001340124.1:p.Glu308Gly
NM_001353196.2:c.1184A>G NP_001340125.1:p.Glu395Gly
NM_001353197.2:c.1178A>G NP_001340126.2:p.Glu393Gly
NM_001353198.2:c.1178A>G NP_001340127.2:p.Glu393Gly
NM_001353199.2:c.989A>G NP_001340128.2:p.Glu330Gly
NM_001353200.2:c.818A>G NP_001340129.1:p.Glu273Gly
NM_001374689.1:c.1262A>G NP_001361618.1:p.Glu421Gly
NM_001374690.1:c.1274A>G NP_001361619.1:p.Glu425Gly
NM_001374691.1:c.923A>G NP_001361620.1:p.Glu308Gly
NM_001374692.1:c.923A>G NP_001361621.1:p.Glu308Gly
NM_001374693.1:c.923A>G NP_001361622.1:p.Glu308Gly
NM_001374695.1:c.884A>G NP_001361624.1:p.Glu295Gly
NM_007171.4:c.1340A>G NP_009102.4:p.Glu447Gly
NR_148391.2:n.1308A>G
NR_148392.2:n.1526A>G
NR_148393.2:n.1308A>G
NR_148394.2:n.1201A>G
NR_148395.2:n.1460A>G
NR_148396.2:n.1094A>G
NR_148397.2:n.1358A>G
NR_148398.2:n.1313A>G
NR_148399.2:n.1700A>G
NR_148400.2:n.1299A>G