Canonical Allele Identifier: CA2695211408
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523005dup , CM000671.2:g.131523005dup GRCh38
NC_000009.11:g.134398392dup , CM000671.1:g.134398392dup GRCh37
NC_000009.10:g.133388213dup NCBI36
NG_008896.1:g.25104dup
NG_008896.2:g.25104dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1915dup ENSP00000343034.7:p.Thr639AsnfsTer16
ENST00000404875.7:n.2617dup
ENST00000423007.6:c.2134dup ENSP00000404119.2:p.Thr712AsnfsTer16
ENST00000677295.2:c.*2421dup ENSP00000504346.2:n.*2421dup
ENST00000678264.2:c.*2260dup ENSP00000503157.2:n.*2260dup
ENST00000682070.1:n.2387dup
ENST00000682639.1:c.74dup
ENST00000682813.1:n.2474dup
ENST00000683231.1:c.74dup
ENST00000683392.1:n.4669dup
ENST00000683712.1:n.2482dup
ENST00000683900.1:n.3977dup
ENST00000684062.1:n.2743dup
ENST00000684399.1:c.74dup
ENST00000684579.1:n.3923dup
ENST00000341012.12:c.1915dup ENSP00000343034.7:p.Thr639AsnfsTer16
ENST00000372220.5:c.946dup ENSP00000361294.5:p.Thr316AsnfsTer16
ENST00000372228.9:c.2143dup ENSP00000361302.3:p.Thr715AsnfsTer16
ENST00000402686.8:c.2077dup MANE Select ENSP00000385797.4:p.Thr693AsnfsTer16
ENST00000676640.1:c.2077dup ENSP00000503281.1:p.Thr693AsnfsTer16
ENST00000676803.1:c.1138dup ENSP00000503093.1:p.Thr380AsnfsTer16
ENST00000676835.1:c.*1292dup ENSP00000502911.1:n.*1292dup
ENST00000677029.1:c.1621dup ENSP00000502936.1:p.Thr541AsnfsTer16
ENST00000677099.1:c.*1787dup ENSP00000504553.1:n.*1787dup
ENST00000677216.1:c.1726dup ENSP00000503772.1:p.Thr576AsnfsTer16
ENST00000677221.1:n.1102dup
ENST00000677295.1:c.*1299dup ENSP00000504346.1:n.*1299dup
ENST00000677444.1:c.2022dup
ENST00000677586.1:n.1444dup
ENST00000677626.1:c.1726dup ENSP00000503552.1:p.Thr576AsnfsTer16
ENST00000677853.1:c.*1085dup ENSP00000503488.1:n.*1085dup
ENST00000678264.1:c.*1454dup ENSP00000503157.1:n.*1454dup
ENST00000678303.1:c.1987dup ENSP00000503696.1:p.Thr663AsnfsTer16
ENST00000678366.1:c.*2326dup ENSP00000504353.1:n.*2326dup
ENST00000678546.1:c.*2022dup ENSP00000503062.1:n.*2022dup
ENST00000678548.1:c.*2216dup ENSP00000503934.1:n.*2216dup
ENST00000678626.1:n.1913dup
ENST00000678739.1:c.*2243dup ENSP00000503806.1:n.*2243dup
ENST00000678833.1:c.*1829dup ENSP00000503893.1:n.*1829dup
ENST00000679023.1:c.1915dup ENSP00000503718.1:p.Thr639AsnfsTer16
ENST00000679076.1:c.1696dup
ENST00000679111.1:c.*833dup ENSP00000504257.1:n.*833dup
ENST00000679189.1:c.1726dup ENSP00000503356.1:p.Thr576AsnfsTer16
ENST00000341012.11:c.1915dup ENSP00000343034.7:p.Thr639AsnfsTer16
ENST00000372220.4:c.940dup ENSP00000361294.4:p.Thr314AsnfsTer16
ENST00000372228.7:c.2143dup ENSP00000361302.3:p.Thr715AsnfsTer16
ENST00000402686.7:c.2077dup ENSP00000385797.3:p.Thr693AsnfsTer16
ENST00000404875.6:c.1726dup ENSP00000384531.2:p.Thr576AsnfsTer16
ENST00000423007.5:c.2077dup ENSP00000404119.1:p.Thr693AsnfsTer16
ENST00000485278.5:n.2627dup
NM_001077365.1:c.2077dup NP_001070833.1:p.Thr693AsnfsTer16
NM_001077366.1:c.1915dup NP_001070834.1:p.Thr639AsnfsTer16
NM_001136113.1:c.2077dup NP_001129585.1:p.Thr693AsnfsTer16
NM_001136114.1:c.1726dup NP_001129586.1:p.Thr576AsnfsTer16
NM_007171.3:c.2143dup NP_009102.3:p.Thr715AsnfsTer16
XM_005272156.1:c.2143dup XP_005272213.1:p.Thr715AsnfsTer16
XM_005272158.1:c.1981dup XP_005272215.1:p.Thr661AsnfsTer16
XM_005272159.1:c.1792dup XP_005272216.1:p.Thr598AsnfsTer16
XM_005272162.1:c.946dup XP_005272219.1:p.Thr316AsnfsTer16
XM_006716932.1:c.1792dup XP_006716995.1:p.Thr598AsnfsTer16
XM_011518140.1:c.1996dup XP_011516442.1:p.Thr666AsnfsTer16
XM_011518141.1:c.1930dup XP_011516443.1:p.Thr644AsnfsTer16
XM_011518142.1:c.1834dup XP_011516444.1:p.Thr612AsnfsTer16
XM_011518143.1:c.1828dup XP_011516445.1:p.Thr610AsnfsTer16
XM_011518145.1:c.1687dup XP_011516447.1:p.Thr563AsnfsTer16
XM_011518147.1:c.1015dup XP_011516449.1:p.Thr339AsnfsTer16
XR_929703.1:n.2319dup
NM_001353193.1:c.2143dup NP_001340122.1:p.Thr715AsnfsTer16
NM_001353194.1:c.1915dup NP_001340123.1:p.Thr639AsnfsTer16
NM_001353195.1:c.1726dup NP_001340124.1:p.Thr576AsnfsTer16
NM_001353196.1:c.1987dup NP_001340125.1:p.Thr663AsnfsTer16
NM_001353197.1:c.1981dup NP_001340126.1:p.Thr661AsnfsTer16
NM_001353198.1:c.1981dup NP_001340127.1:p.Thr661AsnfsTer16
NM_001353199.1:c.1792dup NP_001340128.1:p.Thr598AsnfsTer16
NM_001353200.1:c.1621dup NP_001340129.1:p.Thr541AsnfsTer16
NR_148391.1:n.2127dup
NR_148392.1:n.2345dup
NR_148393.1:n.2266dup
NR_148394.1:n.2020dup
NR_148395.1:n.2418dup
NR_148396.1:n.2052dup
NR_148397.1:n.2177dup
NR_148398.1:n.2132dup
NR_148399.1:n.2658dup
NR_148400.1:n.2257dup
XM_005272162.3:c.946dup XP_005272219.1:p.Thr316AsnfsTer16
XM_006716932.2:c.1792dup XP_006716995.1:p.Thr598AsnfsTer16
XM_011518140.2:c.1996dup XP_011516442.1:p.Thr666AsnfsTer16
XM_011518141.2:c.1930dup XP_011516443.1:p.Thr644AsnfsTer16
XM_011518142.2:c.1834dup XP_011516444.1:p.Thr612AsnfsTer16
XM_011518143.2:c.1828dup XP_011516445.1:p.Thr610AsnfsTer16
XM_011518145.2:c.1687dup XP_011516447.1:p.Thr563AsnfsTer16
XM_017014205.2:c.946dup XP_016869694.1:p.Thr316AsnfsTer16
XM_024447380.1:c.946dup XP_024303148.1:p.Thr316AsnfsTer16
XM_024447381.1:c.1252dup XP_024303149.1:p.Thr418AsnfsTer16
XM_024447382.1:c.946dup XP_024303150.1:p.Thr316AsnfsTer16
XR_001746160.2:n.2247dup
XR_001746162.2:n.2452dup
XR_001746164.1:n.2169dup
XR_001746166.2:n.2464dup
NM_001077365.2:c.2077dup MANE Select NP_001070833.1:p.Thr693AsnfsTer16
NM_001077366.2:c.1915dup NP_001070834.1:p.Thr639AsnfsTer16
NM_001136113.2:c.2077dup NP_001129585.1:p.Thr693AsnfsTer16
NM_001136114.2:c.1726dup NP_001129586.1:p.Thr576AsnfsTer16
NM_001353193.2:c.2143dup NP_001340122.2:p.Thr715AsnfsTer16
NM_001353194.2:c.1915dup NP_001340123.1:p.Thr639AsnfsTer16
NM_001353195.2:c.1726dup NP_001340124.1:p.Thr576AsnfsTer16
NM_001353196.2:c.1987dup NP_001340125.1:p.Thr663AsnfsTer16
NM_001353197.2:c.1981dup NP_001340126.2:p.Thr661AsnfsTer16
NM_001353198.2:c.1981dup NP_001340127.2:p.Thr661AsnfsTer16
NM_001353199.2:c.1792dup NP_001340128.2:p.Thr598AsnfsTer16
NM_001353200.2:c.1621dup NP_001340129.1:p.Thr541AsnfsTer16
NM_001374689.1:c.2065dup NP_001361618.1:p.Thr689AsnfsTer16
NM_001374690.1:c.1858dup NP_001361619.1:p.Thr620AsnfsTer16
NM_001374691.1:c.1726dup NP_001361620.1:p.Thr576AsnfsTer16
NM_001374692.1:c.1726dup NP_001361621.1:p.Thr576AsnfsTer16
NM_001374693.1:c.1726dup NP_001361622.1:p.Thr576AsnfsTer16
NM_001374695.1:c.1687dup NP_001361624.1:p.Thr563AsnfsTer16
NM_007171.4:c.2143dup NP_009102.4:p.Thr715AsnfsTer16
NR_148391.2:n.2111dup
NR_148392.2:n.2329dup
NR_148393.2:n.2250dup
NR_148394.2:n.2004dup
NR_148395.2:n.2402dup
NR_148396.2:n.2036dup
NR_148397.2:n.2161dup
NR_148398.2:n.2116dup
NR_148399.2:n.2642dup
NR_148400.2:n.2241dup