Canonical Allele Identifier: CA222996
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3255
dbSNP Id: rs398124245

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523029dup , CM000671.2:g.131523029dup GRCh38
NC_000009.11:g.134398416dup , CM000671.1:g.134398416dup GRCh37
NC_000009.10:g.133388237dup NCBI36
NG_008896.1:g.25128dup
NG_008896.2:g.25128dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1939dup ENSP00000343034.7:p.Asp647GlyfsTer8
ENST00000404875.7:n.2641dup
ENST00000423007.6:c.2158dup ENSP00000404119.2:p.Asp720GlyfsTer8
ENST00000677295.2:c.*2445dup ENSP00000504346.2:n.*2445dup
ENST00000678264.2:c.*2284dup ENSP00000503157.2:n.*2284dup
ENST00000682070.1:n.2411dup
ENST00000682639.1:c.98dup
ENST00000682813.1:n.2498dup
ENST00000683231.1:c.98dup
ENST00000683392.1:n.4693dup
ENST00000683712.1:n.2506dup
ENST00000683900.1:n.4001dup
ENST00000684062.1:n.2767dup
ENST00000684399.1:c.98dup
ENST00000684579.1:n.3947dup
ENST00000341012.12:c.1939dup ENSP00000343034.7:p.Asp647GlyfsTer8
ENST00000372220.5:c.970dup ENSP00000361294.5:p.Asp324GlyfsTer8
ENST00000372228.9:c.2167dup ENSP00000361302.3:p.Asp723GlyfsTer8
ENST00000402686.8:c.2101dup MANE Select ENSP00000385797.4:p.Asp701GlyfsTer8
ENST00000676640.1:c.2101dup ENSP00000503281.1:p.Asp701GlyfsTer8
ENST00000676803.1:c.1162dup ENSP00000503093.1:p.Asp388GlyfsTer8
ENST00000676835.1:c.*1316dup ENSP00000502911.1:n.*1316dup
ENST00000677029.1:c.1645dup ENSP00000502936.1:p.Asp549GlyfsTer8
ENST00000677099.1:c.*1811dup ENSP00000504553.1:n.*1811dup
ENST00000677216.1:c.1750dup ENSP00000503772.1:p.Asp584GlyfsTer8
ENST00000677295.1:c.*1323dup ENSP00000504346.1:n.*1323dup
ENST00000677444.1:c.2046dup
ENST00000677586.1:n.1468dup
ENST00000677626.1:c.1750dup ENSP00000503552.1:p.Asp584GlyfsTer8
ENST00000677853.1:c.*1109dup ENSP00000503488.1:n.*1109dup
ENST00000678264.1:c.*1478dup ENSP00000503157.1:n.*1478dup
ENST00000678303.1:c.2011dup ENSP00000503696.1:p.Asp671GlyfsTer8
ENST00000678366.1:c.*2350dup ENSP00000504353.1:n.*2350dup
ENST00000678546.1:c.*2046dup ENSP00000503062.1:n.*2046dup
ENST00000678548.1:c.*2240dup ENSP00000503934.1:n.*2240dup
ENST00000678626.1:n.1937dup
ENST00000678739.1:c.*2267dup ENSP00000503806.1:n.*2267dup
ENST00000678833.1:c.*1853dup ENSP00000503893.1:n.*1853dup
ENST00000679023.1:c.1939dup ENSP00000503718.1:p.Asp647GlyfsTer8
ENST00000679076.1:c.1720dup
ENST00000679111.1:c.*857dup ENSP00000504257.1:n.*857dup
ENST00000679189.1:c.1750dup ENSP00000503356.1:p.Asp584GlyfsTer8
ENST00000341012.11:c.1939dup ENSP00000343034.7:p.Asp647GlyfsTer8
ENST00000372220.4:c.964dup ENSP00000361294.4:p.Asp322GlyfsTer8
ENST00000372228.7:c.2167dup ENSP00000361302.3:p.Asp723GlyfsTer8
ENST00000402686.7:c.2101dup ENSP00000385797.3:p.Asp701GlyfsTer8
ENST00000404875.6:c.1750dup ENSP00000384531.2:p.Asp584GlyfsTer8
ENST00000423007.5:c.2101dup ENSP00000404119.1:p.Asp701GlyfsTer8
ENST00000485278.5:n.2651dup
NM_001077365.1:c.2101dup NP_001070833.1:p.Asp701GlyfsTer8
NM_001077366.1:c.1939dup NP_001070834.1:p.Asp647GlyfsTer8
NM_001136113.1:c.2101dup NP_001129585.1:p.Asp701GlyfsTer8
NM_001136114.1:c.1750dup NP_001129586.1:p.Asp584GlyfsTer8
NM_007171.3:c.2167dup NP_009102.3:p.Asp723GlyfsTer8
XM_005272156.1:c.2167dup XP_005272213.1:p.Asp723GlyfsTer8
XM_005272158.1:c.2005dup XP_005272215.1:p.Asp669GlyfsTer8
XM_005272159.1:c.1816dup XP_005272216.1:p.Asp606GlyfsTer8
XM_005272162.1:c.970dup XP_005272219.1:p.Asp324GlyfsTer8
XM_006716932.1:c.1816dup XP_006716995.1:p.Asp606GlyfsTer8
XM_011518140.1:c.2020dup XP_011516442.1:p.Asp674GlyfsTer8
XM_011518141.1:c.1954dup XP_011516443.1:p.Asp652GlyfsTer8
XM_011518142.1:c.1858dup XP_011516444.1:p.Asp620GlyfsTer8
XM_011518143.1:c.1852dup XP_011516445.1:p.Asp618GlyfsTer8
XM_011518145.1:c.1711dup XP_011516447.1:p.Asp571GlyfsTer8
XM_011518147.1:c.1039dup XP_011516449.1:p.Asp347GlyfsTer8
XR_929703.1:n.2343dup
NM_001353193.1:c.2167dup NP_001340122.1:p.Asp723GlyfsTer8
NM_001353194.1:c.1939dup NP_001340123.1:p.Asp647GlyfsTer8
NM_001353195.1:c.1750dup NP_001340124.1:p.Asp584GlyfsTer8
NM_001353196.1:c.2011dup NP_001340125.1:p.Asp671GlyfsTer8
NM_001353197.1:c.2005dup NP_001340126.1:p.Asp669GlyfsTer8
NM_001353198.1:c.2005dup NP_001340127.1:p.Asp669GlyfsTer8
NM_001353199.1:c.1816dup NP_001340128.1:p.Asp606GlyfsTer8
NM_001353200.1:c.1645dup NP_001340129.1:p.Asp549GlyfsTer8
NR_148391.1:n.2151dup
NR_148392.1:n.2369dup
NR_148393.1:n.2290dup
NR_148394.1:n.2044dup
NR_148395.1:n.2442dup
NR_148396.1:n.2076dup
NR_148397.1:n.2201dup
NR_148398.1:n.2156dup
NR_148399.1:n.2682dup
NR_148400.1:n.2281dup
XM_005272162.3:c.970dup XP_005272219.1:p.Asp324GlyfsTer8
XM_006716932.2:c.1816dup XP_006716995.1:p.Asp606GlyfsTer8
XM_011518140.2:c.2020dup XP_011516442.1:p.Asp674GlyfsTer8
XM_011518141.2:c.1954dup XP_011516443.1:p.Asp652GlyfsTer8
XM_011518142.2:c.1858dup XP_011516444.1:p.Asp620GlyfsTer8
XM_011518143.2:c.1852dup XP_011516445.1:p.Asp618GlyfsTer8
XM_011518145.2:c.1711dup XP_011516447.1:p.Asp571GlyfsTer8
XM_017014205.2:c.970dup XP_016869694.1:p.Asp324GlyfsTer8
XM_024447380.1:c.970dup XP_024303148.1:p.Asp324GlyfsTer8
XM_024447381.1:c.1276dup XP_024303149.1:p.Asp426GlyfsTer8
XM_024447382.1:c.970dup XP_024303150.1:p.Asp324GlyfsTer8
XR_001746160.2:n.2271dup
XR_001746162.2:n.2476dup
XR_001746164.1:n.2193dup
XR_001746166.2:n.2488dup
NM_001077365.2:c.2101dup MANE Select NP_001070833.1:p.Asp701GlyfsTer8
NM_001077366.2:c.1939dup NP_001070834.1:p.Asp647GlyfsTer8
NM_001136113.2:c.2101dup NP_001129585.1:p.Asp701GlyfsTer8
NM_001136114.2:c.1750dup NP_001129586.1:p.Asp584GlyfsTer8
NM_001353193.2:c.2167dup NP_001340122.2:p.Asp723GlyfsTer8
NM_001353194.2:c.1939dup NP_001340123.1:p.Asp647GlyfsTer8
NM_001353195.2:c.1750dup NP_001340124.1:p.Asp584GlyfsTer8
NM_001353196.2:c.2011dup NP_001340125.1:p.Asp671GlyfsTer8
NM_001353197.2:c.2005dup NP_001340126.2:p.Asp669GlyfsTer8
NM_001353198.2:c.2005dup NP_001340127.2:p.Asp669GlyfsTer8
NM_001353199.2:c.1816dup NP_001340128.2:p.Asp606GlyfsTer8
NM_001353200.2:c.1645dup NP_001340129.1:p.Asp549GlyfsTer8
NM_001374689.1:c.2089dup NP_001361618.1:p.Asp697GlyfsTer8
NM_001374690.1:c.1882dup NP_001361619.1:p.Asp628GlyfsTer8
NM_001374691.1:c.1750dup NP_001361620.1:p.Asp584GlyfsTer8
NM_001374692.1:c.1750dup NP_001361621.1:p.Asp584GlyfsTer8
NM_001374693.1:c.1750dup NP_001361622.1:p.Asp584GlyfsTer8
NM_001374695.1:c.1711dup NP_001361624.1:p.Asp571GlyfsTer8
NM_007171.4:c.2167dup NP_009102.4:p.Asp723GlyfsTer8
NR_148391.2:n.2135dup
NR_148392.2:n.2353dup
NR_148393.2:n.2274dup
NR_148394.2:n.2028dup
NR_148395.2:n.2426dup
NR_148396.2:n.2060dup
NR_148397.2:n.2185dup
NR_148398.2:n.2140dup
NR_148399.2:n.2666dup
NR_148400.2:n.2265dup