Canonical Allele Identifier: CA375311527
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518527C>G , CM000671.2:g.131518527C>G GRCh38
NC_000009.11:g.134393914C>G , CM000671.1:g.134393914C>G GRCh37
NC_000009.10:g.133383735C>G NCBI36
NG_008896.1:g.20626C>G
NG_008896.2:g.20626C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1193C>G ENSP00000343034.7:p.Ala398Gly
ENST00000404875.7:n.1895C>G
ENST00000423007.6:c.1412C>G ENSP00000404119.2:p.Ala471Gly
ENST00000677295.2:c.*1699C>G ENSP00000504346.2:n.*1699C>G
ENST00000678264.2:c.*1538C>G ENSP00000503157.2:n.*1538C>G
ENST00000682070.1:n.1820C>G
ENST00000682535.1:n.127C>G
ENST00000682539.1:c.293C>G
ENST00000682813.1:n.1620C>G
ENST00000683110.1:n.83C>G
ENST00000683392.1:n.4102C>G
ENST00000683712.1:n.1760C>G
ENST00000683900.1:n.3255C>G
ENST00000684062.1:n.2021C>G
ENST00000684579.1:n.3201C>G
ENST00000684679.1:n.582C>G
ENST00000341012.12:c.1193C>G ENSP00000343034.7:p.Ala398Gly
ENST00000372220.5:c.224C>G ENSP00000361294.5:p.Ala75Gly
ENST00000372228.9:c.1421C>G ENSP00000361302.3:p.Ala474Gly
ENST00000402686.8:c.1355C>G MANE Select ENSP00000385797.4:p.Ala452Gly
ENST00000676640.1:c.1355C>G ENSP00000503281.1:p.Ala452Gly
ENST00000676803.1:c.530C>G ENSP00000503093.1:p.Ala177Gly
ENST00000676835.1:c.*570C>G ENSP00000502911.1:n.*570C>G
ENST00000677029.1:c.899C>G ENSP00000502936.1:p.Ala300Gly
ENST00000677099.1:c.*1065C>G ENSP00000504553.1:n.*1065C>G
ENST00000677216.1:c.1004C>G ENSP00000503772.1:p.Ala335Gly
ENST00000677221.1:n.380C>G
ENST00000677295.1:c.*732C>G ENSP00000504346.1:n.*732C>G
ENST00000677444.1:c.1161C>G
ENST00000677586.1:n.836C>G
ENST00000677626.1:c.1004C>G ENSP00000503552.1:p.Ala335Gly
ENST00000677677.1:n.1315C>G
ENST00000677853.1:c.*363C>G ENSP00000503488.1:n.*363C>G
ENST00000677983.1:n.444C>G
ENST00000678202.1:n.375C>G
ENST00000678264.1:c.*732C>G ENSP00000503157.1:n.*732C>G
ENST00000678303.1:c.1265C>G ENSP00000503696.1:p.Ala422Gly
ENST00000678366.1:c.*1604C>G ENSP00000504353.1:n.*1604C>G
ENST00000678546.1:c.*1300C>G ENSP00000503062.1:n.*1300C>G
ENST00000678548.1:c.*1427C>G ENSP00000503934.1:n.*1427C>G
ENST00000678626.1:n.1052C>G
ENST00000678733.1:c.436C>G
ENST00000678739.1:c.*1681C>G ENSP00000503806.1:n.*1681C>G
ENST00000678795.1:n.442C>G
ENST00000678833.1:c.*802C>G ENSP00000503893.1:n.*802C>G
ENST00000678942.1:c.535C>G ENSP00000504690.1:n.535C>G
ENST00000679023.1:c.1193C>G ENSP00000503718.1:p.Ala398Gly
ENST00000679076.1:c.974C>G
ENST00000679111.1:c.1355C>G ENSP00000504257.1:p.Ala452Gly
ENST00000679189.1:c.1004C>G ENSP00000503356.1:p.Ala335Gly
ENST00000341012.11:c.1193C>G ENSP00000343034.7:p.Ala398Gly
ENST00000372220.4:c.218C>G ENSP00000361294.4:p.Ala73Gly
ENST00000372228.7:c.1421C>G ENSP00000361302.3:p.Ala474Gly
ENST00000402686.7:c.1355C>G ENSP00000385797.3:p.Ala452Gly
ENST00000404875.6:c.1004C>G ENSP00000384531.2:p.Ala335Gly
ENST00000423007.5:c.1355C>G ENSP00000404119.1:p.Ala452Gly
ENST00000485278.5:n.1910C>G
NM_001077365.1:c.1355C>G NP_001070833.1:p.Ala452Gly
NM_001077366.1:c.1193C>G NP_001070834.1:p.Ala398Gly
NM_001136113.1:c.1355C>G NP_001129585.1:p.Ala452Gly
NM_001136114.1:c.1004C>G NP_001129586.1:p.Ala335Gly
NM_007171.3:c.1421C>G NP_009102.3:p.Ala474Gly
XM_005272156.1:c.1421C>G XP_005272213.1:p.Ala474Gly
XM_005272158.1:c.1259C>G XP_005272215.1:p.Ala420Gly
XM_005272159.1:c.1070C>G XP_005272216.1:p.Ala357Gly
XM_005272162.1:c.224C>G XP_005272219.1:p.Ala75Gly
XM_006716932.1:c.1070C>G XP_006716995.1:p.Ala357Gly
XM_011518140.1:c.1274C>G XP_011516442.1:p.Ala425Gly
XM_011518141.1:c.1208C>G XP_011516443.1:p.Ala403Gly
XM_011518142.1:c.1112C>G XP_011516444.1:p.Ala371Gly
XM_011518143.1:c.1106C>G XP_011516445.1:p.Ala369Gly
XM_011518144.1:c.1421C>G XP_011516446.1:p.Ala474Gly
XM_011518145.1:c.965C>G XP_011516447.1:p.Ala322Gly
XM_011518146.1:c.1106C>G XP_011516448.1:p.Ala369Gly
XM_011518147.1:c.293C>G XP_011516449.1:p.Ala98Gly
XR_929703.1:n.1597C>G
NM_001353193.1:c.1421C>G NP_001340122.1:p.Ala474Gly
NM_001353194.1:c.1193C>G NP_001340123.1:p.Ala398Gly
NM_001353195.1:c.1004C>G NP_001340124.1:p.Ala335Gly
NM_001353196.1:c.1265C>G NP_001340125.1:p.Ala422Gly
NM_001353197.1:c.1259C>G NP_001340126.1:p.Ala420Gly
NM_001353198.1:c.1259C>G NP_001340127.1:p.Ala420Gly
NM_001353199.1:c.1070C>G NP_001340128.1:p.Ala357Gly
NM_001353200.1:c.899C>G NP_001340129.1:p.Ala300Gly
NR_148391.1:n.1405C>G
NR_148392.1:n.1623C>G
NR_148393.1:n.1405C>G
NR_148394.1:n.1298C>G
NR_148395.1:n.1557C>G
NR_148396.1:n.1191C>G
NR_148397.1:n.1455C>G
NR_148398.1:n.1410C>G
NR_148399.1:n.1797C>G
NR_148400.1:n.1396C>G
XM_005272162.3:c.224C>G XP_005272219.1:p.Ala75Gly
XM_006716932.2:c.1070C>G XP_006716995.1:p.Ala357Gly
XM_011518140.2:c.1274C>G XP_011516442.1:p.Ala425Gly
XM_011518141.2:c.1208C>G XP_011516443.1:p.Ala403Gly
XM_011518142.2:c.1112C>G XP_011516444.1:p.Ala371Gly
XM_011518143.2:c.1106C>G XP_011516445.1:p.Ala369Gly
XM_011518145.2:c.965C>G XP_011516447.1:p.Ala322Gly
XM_017014205.2:c.224C>G XP_016869694.1:p.Ala75Gly
XM_024447380.1:c.224C>G XP_024303148.1:p.Ala75Gly
XM_024447381.1:c.530C>G XP_024303149.1:p.Ala177Gly
XM_024447382.1:c.224C>G XP_024303150.1:p.Ala75Gly
XR_001746160.2:n.1525C>G
XR_001746162.2:n.1591C>G
XR_001746164.1:n.1308C>G
XR_001746166.2:n.1742C>G
NM_001077365.2:c.1355C>G MANE Select NP_001070833.1:p.Ala452Gly
NM_001077366.2:c.1193C>G NP_001070834.1:p.Ala398Gly
NM_001136113.2:c.1355C>G NP_001129585.1:p.Ala452Gly
NM_001136114.2:c.1004C>G NP_001129586.1:p.Ala335Gly
NM_001353193.2:c.1421C>G NP_001340122.2:p.Ala474Gly
NM_001353194.2:c.1193C>G NP_001340123.1:p.Ala398Gly
NM_001353195.2:c.1004C>G NP_001340124.1:p.Ala335Gly
NM_001353196.2:c.1265C>G NP_001340125.1:p.Ala422Gly
NM_001353197.2:c.1259C>G NP_001340126.2:p.Ala420Gly
NM_001353198.2:c.1259C>G NP_001340127.2:p.Ala420Gly
NM_001353199.2:c.1070C>G NP_001340128.2:p.Ala357Gly
NM_001353200.2:c.899C>G NP_001340129.1:p.Ala300Gly
NM_001374689.1:c.1343C>G NP_001361618.1:p.Ala448Gly
NM_001374690.1:c.1355C>G NP_001361619.1:p.Ala452Gly
NM_001374691.1:c.1004C>G NP_001361620.1:p.Ala335Gly
NM_001374692.1:c.1004C>G NP_001361621.1:p.Ala335Gly
NM_001374693.1:c.1004C>G NP_001361622.1:p.Ala335Gly
NM_001374695.1:c.965C>G NP_001361624.1:p.Ala322Gly
NM_007171.4:c.1421C>G NP_009102.4:p.Ala474Gly
NR_148391.2:n.1389C>G
NR_148392.2:n.1607C>G
NR_148393.2:n.1389C>G
NR_148394.2:n.1282C>G
NR_148395.2:n.1541C>G
NR_148396.2:n.1175C>G
NR_148397.2:n.1439C>G
NR_148398.2:n.1394C>G
NR_148399.2:n.1781C>G
NR_148400.2:n.1380C>G