Canonical Allele Identifier: CA375311940
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518894A>T , CM000671.2:g.131518894A>T GRCh38
NC_000009.11:g.134394281A>T , CM000671.1:g.134394281A>T GRCh37
NC_000009.10:g.133384102A>T NCBI36
NG_008896.1:g.20993A>T
NG_008896.2:g.20993A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1261A>T ENSP00000343034.7:p.Lys421Ter
ENST00000404875.7:n.1963A>T
ENST00000423007.6:c.1480A>T ENSP00000404119.2:p.Lys494Ter
ENST00000677295.2:c.*1767A>T ENSP00000504346.2:n.*1767A>T
ENST00000678264.2:c.*1606A>T ENSP00000503157.2:n.*1606A>T
ENST00000682070.1:n.1888A>T
ENST00000682539.1:c.361A>T
ENST00000682813.1:n.1827A>T
ENST00000683392.1:n.4170A>T
ENST00000683712.1:n.1828A>T
ENST00000683900.1:n.3323A>T
ENST00000684062.1:n.2089A>T
ENST00000684579.1:n.3269A>T
ENST00000684679.1:n.650A>T
ENST00000341012.12:c.1261A>T ENSP00000343034.7:p.Lys421Ter
ENST00000372220.5:c.292A>T ENSP00000361294.5:p.Lys98Ter
ENST00000372228.9:c.1489A>T ENSP00000361302.3:p.Lys497Ter
ENST00000402686.8:c.1423A>T MANE Select ENSP00000385797.4:p.Lys475Ter
ENST00000676640.1:c.1423A>T ENSP00000503281.1:p.Lys475Ter
ENST00000676803.1:c.598A>T ENSP00000503093.1:p.Lys200Ter
ENST00000676835.1:c.*638A>T ENSP00000502911.1:n.*638A>T
ENST00000677029.1:c.967A>T ENSP00000502936.1:p.Lys323Ter
ENST00000677099.1:c.*1133A>T ENSP00000504553.1:n.*1133A>T
ENST00000677216.1:c.1072A>T ENSP00000503772.1:p.Lys358Ter
ENST00000677221.1:n.448A>T
ENST00000677295.1:c.*800A>T ENSP00000504346.1:n.*800A>T
ENST00000677444.1:c.1368A>T
ENST00000677586.1:n.904A>T
ENST00000677626.1:c.1072A>T ENSP00000503552.1:p.Lys358Ter
ENST00000677677.1:n.1383A>T
ENST00000677853.1:c.*431A>T ENSP00000503488.1:n.*431A>T
ENST00000678202.1:n.582A>T
ENST00000678264.1:c.*800A>T ENSP00000503157.1:n.*800A>T
ENST00000678303.1:c.1333A>T ENSP00000503696.1:p.Lys445Ter
ENST00000678366.1:c.*1672A>T ENSP00000504353.1:n.*1672A>T
ENST00000678546.1:c.*1368A>T ENSP00000503062.1:n.*1368A>T
ENST00000678548.1:c.*1495A>T ENSP00000503934.1:n.*1495A>T
ENST00000678626.1:n.1259A>T
ENST00000678733.1:c.504A>T
ENST00000678739.1:c.*1749A>T ENSP00000503806.1:n.*1749A>T
ENST00000678833.1:c.*870A>T ENSP00000503893.1:n.*870A>T
ENST00000679023.1:c.1261A>T ENSP00000503718.1:p.Lys421Ter
ENST00000679076.1:c.1042A>T
ENST00000679111.1:c.*179A>T ENSP00000504257.1:n.*179A>T
ENST00000679189.1:c.1072A>T ENSP00000503356.1:p.Lys358Ter
ENST00000341012.11:c.1261A>T ENSP00000343034.7:p.Lys421Ter
ENST00000372220.4:c.286A>T ENSP00000361294.4:p.Lys96Ter
ENST00000372228.7:c.1489A>T ENSP00000361302.3:p.Lys497Ter
ENST00000402686.7:c.1423A>T ENSP00000385797.3:p.Lys475Ter
ENST00000404875.6:c.1072A>T ENSP00000384531.2:p.Lys358Ter
ENST00000423007.5:c.1423A>T ENSP00000404119.1:p.Lys475Ter
ENST00000467848.1:n.127A>T
ENST00000485278.5:n.1978A>T
NM_001077365.1:c.1423A>T NP_001070833.1:p.Lys475Ter
NM_001077366.1:c.1261A>T NP_001070834.1:p.Lys421Ter
NM_001136113.1:c.1423A>T NP_001129585.1:p.Lys475Ter
NM_001136114.1:c.1072A>T NP_001129586.1:p.Lys358Ter
NM_007171.3:c.1489A>T NP_009102.3:p.Lys497Ter
XM_005272156.1:c.1489A>T XP_005272213.1:p.Lys497Ter
XM_005272158.1:c.1327A>T XP_005272215.1:p.Lys443Ter
XM_005272159.1:c.1138A>T XP_005272216.1:p.Lys380Ter
XM_005272162.1:c.292A>T XP_005272219.1:p.Lys98Ter
XM_006716932.1:c.1138A>T XP_006716995.1:p.Lys380Ter
XM_011518140.1:c.1342A>T XP_011516442.1:p.Lys448Ter
XM_011518141.1:c.1276A>T XP_011516443.1:p.Lys426Ter
XM_011518142.1:c.1180A>T XP_011516444.1:p.Lys394Ter
XM_011518143.1:c.1174A>T XP_011516445.1:p.Lys392Ter
XM_011518145.1:c.1033A>T XP_011516447.1:p.Lys345Ter
XM_011518147.1:c.361A>T XP_011516449.1:p.Lys121Ter
XR_929703.1:n.1665A>T
NM_001353193.1:c.1489A>T NP_001340122.1:p.Lys497Ter
NM_001353194.1:c.1261A>T NP_001340123.1:p.Lys421Ter
NM_001353195.1:c.1072A>T NP_001340124.1:p.Lys358Ter
NM_001353196.1:c.1333A>T NP_001340125.1:p.Lys445Ter
NM_001353197.1:c.1327A>T NP_001340126.1:p.Lys443Ter
NM_001353198.1:c.1327A>T NP_001340127.1:p.Lys443Ter
NM_001353199.1:c.1138A>T NP_001340128.1:p.Lys380Ter
NM_001353200.1:c.967A>T NP_001340129.1:p.Lys323Ter
NR_148391.1:n.1473A>T
NR_148392.1:n.1691A>T
NR_148393.1:n.1612A>T
NR_148394.1:n.1366A>T
NR_148395.1:n.1764A>T
NR_148396.1:n.1398A>T
NR_148397.1:n.1523A>T
NR_148398.1:n.1478A>T
NR_148399.1:n.2004A>T
NR_148400.1:n.1603A>T
XM_005272162.3:c.292A>T XP_005272219.1:p.Lys98Ter
XM_006716932.2:c.1138A>T XP_006716995.1:p.Lys380Ter
XM_011518140.2:c.1342A>T XP_011516442.1:p.Lys448Ter
XM_011518141.2:c.1276A>T XP_011516443.1:p.Lys426Ter
XM_011518142.2:c.1180A>T XP_011516444.1:p.Lys394Ter
XM_011518143.2:c.1174A>T XP_011516445.1:p.Lys392Ter
XM_011518145.2:c.1033A>T XP_011516447.1:p.Lys345Ter
XM_017014205.2:c.292A>T XP_016869694.1:p.Lys98Ter
XM_024447380.1:c.292A>T XP_024303148.1:p.Lys98Ter
XM_024447381.1:c.598A>T XP_024303149.1:p.Lys200Ter
XM_024447382.1:c.292A>T XP_024303150.1:p.Lys98Ter
XR_001746160.2:n.1593A>T
XR_001746162.2:n.1798A>T
XR_001746164.1:n.1515A>T
XR_001746166.2:n.1810A>T
NM_001077365.2:c.1423A>T MANE Select NP_001070833.1:p.Lys475Ter
NM_001077366.2:c.1261A>T NP_001070834.1:p.Lys421Ter
NM_001136113.2:c.1423A>T NP_001129585.1:p.Lys475Ter
NM_001136114.2:c.1072A>T NP_001129586.1:p.Lys358Ter
NM_001353193.2:c.1489A>T NP_001340122.2:p.Lys497Ter
NM_001353194.2:c.1261A>T NP_001340123.1:p.Lys421Ter
NM_001353195.2:c.1072A>T NP_001340124.1:p.Lys358Ter
NM_001353196.2:c.1333A>T NP_001340125.1:p.Lys445Ter
NM_001353197.2:c.1327A>T NP_001340126.2:p.Lys443Ter
NM_001353198.2:c.1327A>T NP_001340127.2:p.Lys443Ter
NM_001353199.2:c.1138A>T NP_001340128.2:p.Lys380Ter
NM_001353200.2:c.967A>T NP_001340129.1:p.Lys323Ter
NM_001374689.1:c.1411A>T NP_001361618.1:p.Lys471Ter
NM_001374690.1:c.1365+357A>T NP_001361619.1:n.1365+357A>T
NM_001374691.1:c.1072A>T NP_001361620.1:p.Lys358Ter
NM_001374692.1:c.1072A>T NP_001361621.1:p.Lys358Ter
NM_001374693.1:c.1072A>T NP_001361622.1:p.Lys358Ter
NM_001374695.1:c.1033A>T NP_001361624.1:p.Lys345Ter
NM_007171.4:c.1489A>T NP_009102.4:p.Lys497Ter
NR_148391.2:n.1457A>T
NR_148392.2:n.1675A>T
NR_148393.2:n.1596A>T
NR_148394.2:n.1350A>T
NR_148395.2:n.1748A>T
NR_148396.2:n.1382A>T
NR_148397.2:n.1507A>T
NR_148398.2:n.1462A>T
NR_148399.2:n.1988A>T
NR_148400.2:n.1587A>T