Canonical Allele Identifier: CA295431
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162594
dbSNP Id: rs727502854

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518949dup , CM000671.2:g.131518949dup GRCh38
NC_000009.11:g.134394336dup , CM000671.1:g.134394336dup GRCh37
NC_000009.10:g.133384157dup NCBI36
NG_008896.1:g.21048dup
NG_008896.2:g.21048dup

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.1316dup ENSP00000343034.7:p.Tyr439Ter
ENST00000404875.7:n.2018dup
ENST00000423007.6:c.1535dup ENSP00000404119.2:p.Tyr512Ter
ENST00000677295.2:c.*1822dup ENSP00000504346.2:n.*1822dup
ENST00000678264.2:c.*1661dup ENSP00000503157.2:n.*1661dup
ENST00000682070.1:n.1943dup
ENST00000682539.1:c.416dup
ENST00000682813.1:n.1882dup
ENST00000683392.1:n.4225dup
ENST00000683712.1:n.1883dup
ENST00000683900.1:n.3378dup
ENST00000684062.1:n.2144dup
ENST00000684579.1:n.3324dup
ENST00000684679.1:n.705dup
ENST00000341012.12:c.1316dup ENSP00000343034.7:p.Tyr439Ter
ENST00000372220.5:c.347dup ENSP00000361294.5:p.Tyr116Ter
ENST00000372228.9:c.1544dup ENSP00000361302.3:p.Tyr515Ter
ENST00000402686.8:c.1478dup MANE Select ENSP00000385797.4:p.Tyr493Ter
ENST00000676640.1:c.1478dup ENSP00000503281.1:p.Tyr493Ter
ENST00000676803.1:c.653dup ENSP00000503093.1:p.Tyr218Ter
ENST00000676835.1:c.*693dup ENSP00000502911.1:n.*693dup
ENST00000677029.1:c.1022dup ENSP00000502936.1:p.Tyr341Ter
ENST00000677099.1:c.*1188dup ENSP00000504553.1:n.*1188dup
ENST00000677216.1:c.1127dup ENSP00000503772.1:p.Tyr376Ter
ENST00000677221.1:n.503dup
ENST00000677295.1:c.*855dup ENSP00000504346.1:n.*855dup
ENST00000677444.1:c.1423dup
ENST00000677586.1:n.959dup
ENST00000677626.1:c.1127dup ENSP00000503552.1:p.Tyr376Ter
ENST00000677677.1:n.1438dup
ENST00000677853.1:c.*486dup ENSP00000503488.1:n.*486dup
ENST00000678202.1:n.637dup
ENST00000678264.1:c.*855dup ENSP00000503157.1:n.*855dup
ENST00000678303.1:c.1388dup ENSP00000503696.1:p.Tyr463Ter
ENST00000678366.1:c.*1727dup ENSP00000504353.1:n.*1727dup
ENST00000678546.1:c.*1423dup ENSP00000503062.1:n.*1423dup
ENST00000678548.1:c.*1550dup ENSP00000503934.1:n.*1550dup
ENST00000678626.1:n.1314dup
ENST00000678733.1:c.559dup
ENST00000678739.1:c.*1804dup ENSP00000503806.1:n.*1804dup
ENST00000678833.1:c.*925dup ENSP00000503893.1:n.*925dup
ENST00000679023.1:c.1316dup ENSP00000503718.1:p.Tyr439Ter
ENST00000679076.1:c.1097dup
ENST00000679111.1:c.*234dup ENSP00000504257.1:n.*234dup
ENST00000679189.1:c.1127dup ENSP00000503356.1:p.Tyr376Ter
ENST00000341012.11:c.1316dup ENSP00000343034.7:p.Tyr439Ter
ENST00000372220.4:c.341dup ENSP00000361294.4:p.Tyr114Ter
ENST00000372228.7:c.1544dup ENSP00000361302.3:p.Tyr515Ter
ENST00000402686.7:c.1478dup ENSP00000385797.3:p.Tyr493Ter
ENST00000404875.6:c.1127dup ENSP00000384531.2:p.Tyr376Ter
ENST00000423007.5:c.1478dup ENSP00000404119.1:p.Tyr493Ter
ENST00000467848.1:n.182dup
ENST00000485278.5:n.2033dup
NM_001077365.1:c.1478dup NP_001070833.1:p.Tyr493Ter
NM_001077366.1:c.1316dup NP_001070834.1:p.Tyr439Ter
NM_001136113.1:c.1478dup NP_001129585.1:p.Tyr493Ter
NM_001136114.1:c.1127dup NP_001129586.1:p.Tyr376Ter
NM_007171.3:c.1544dup NP_009102.3:p.Tyr515Ter
XM_005272156.1:c.1544dup XP_005272213.1:p.Tyr515Ter
XM_005272158.1:c.1382dup XP_005272215.1:p.Tyr461Ter
XM_005272159.1:c.1193dup XP_005272216.1:p.Tyr398Ter
XM_005272162.1:c.347dup XP_005272219.1:p.Tyr116Ter
XM_006716932.1:c.1193dup XP_006716995.1:p.Tyr398Ter
XM_011518140.1:c.1397dup XP_011516442.1:p.Tyr466Ter
XM_011518141.1:c.1331dup XP_011516443.1:p.Tyr444Ter
XM_011518142.1:c.1235dup XP_011516444.1:p.Tyr412Ter
XM_011518143.1:c.1229dup XP_011516445.1:p.Tyr410Ter
XM_011518145.1:c.1088dup XP_011516447.1:p.Tyr363Ter
XM_011518147.1:c.416dup XP_011516449.1:p.Tyr139Ter
XR_929703.1:n.1720dup
NM_001353193.1:c.1544dup NP_001340122.1:p.Tyr515Ter
NM_001353194.1:c.1316dup NP_001340123.1:p.Tyr439Ter
NM_001353195.1:c.1127dup NP_001340124.1:p.Tyr376Ter
NM_001353196.1:c.1388dup NP_001340125.1:p.Tyr463Ter
NM_001353197.1:c.1382dup NP_001340126.1:p.Tyr461Ter
NM_001353198.1:c.1382dup NP_001340127.1:p.Tyr461Ter
NM_001353199.1:c.1193dup NP_001340128.1:p.Tyr398Ter
NM_001353200.1:c.1022dup NP_001340129.1:p.Tyr341Ter
NR_148391.1:n.1528dup
NR_148392.1:n.1746dup
NR_148393.1:n.1667dup
NR_148394.1:n.1421dup
NR_148395.1:n.1819dup
NR_148396.1:n.1453dup
NR_148397.1:n.1578dup
NR_148398.1:n.1533dup
NR_148399.1:n.2059dup
NR_148400.1:n.1658dup
XM_005272162.3:c.347dup XP_005272219.1:p.Tyr116Ter
XM_006716932.2:c.1193dup XP_006716995.1:p.Tyr398Ter
XM_011518140.2:c.1397dup XP_011516442.1:p.Tyr466Ter
XM_011518141.2:c.1331dup XP_011516443.1:p.Tyr444Ter
XM_011518142.2:c.1235dup XP_011516444.1:p.Tyr412Ter
XM_011518143.2:c.1229dup XP_011516445.1:p.Tyr410Ter
XM_011518145.2:c.1088dup XP_011516447.1:p.Tyr363Ter
XM_017014205.2:c.347dup XP_016869694.1:p.Tyr116Ter
XM_024447380.1:c.347dup XP_024303148.1:p.Tyr116Ter
XM_024447381.1:c.653dup XP_024303149.1:p.Tyr218Ter
XM_024447382.1:c.347dup XP_024303150.1:p.Tyr116Ter
XR_001746160.2:n.1648dup
XR_001746162.2:n.1853dup
XR_001746164.1:n.1570dup
XR_001746166.2:n.1865dup
NM_001077365.2:c.1478dup MANE Select NP_001070833.1:p.Tyr493Ter
NM_001077366.2:c.1316dup NP_001070834.1:p.Tyr439Ter
NM_001136113.2:c.1478dup NP_001129585.1:p.Tyr493Ter
NM_001136114.2:c.1127dup NP_001129586.1:p.Tyr376Ter
NM_001353193.2:c.1544dup NP_001340122.2:p.Tyr515Ter
NM_001353194.2:c.1316dup NP_001340123.1:p.Tyr439Ter
NM_001353195.2:c.1127dup NP_001340124.1:p.Tyr376Ter
NM_001353196.2:c.1388dup NP_001340125.1:p.Tyr463Ter
NM_001353197.2:c.1382dup NP_001340126.2:p.Tyr461Ter
NM_001353198.2:c.1382dup NP_001340127.2:p.Tyr461Ter
NM_001353199.2:c.1193dup NP_001340128.2:p.Tyr398Ter
NM_001353200.2:c.1022dup NP_001340129.1:p.Tyr341Ter
NM_001374689.1:c.1466dup NP_001361618.1:p.Tyr489Ter
NM_001374690.1:c.1365+412dup NP_001361619.1:n.1365+412dup
NM_001374691.1:c.1127dup NP_001361620.1:p.Tyr376Ter
NM_001374692.1:c.1127dup NP_001361621.1:p.Tyr376Ter
NM_001374693.1:c.1127dup NP_001361622.1:p.Tyr376Ter
NM_001374695.1:c.1088dup NP_001361624.1:p.Tyr363Ter
NM_007171.4:c.1544dup NP_009102.4:p.Tyr515Ter
NR_148391.2:n.1512dup
NR_148392.2:n.1730dup
NR_148393.2:n.1651dup
NR_148394.2:n.1405dup
NR_148395.2:n.1803dup
NR_148396.2:n.1437dup
NR_148397.2:n.1562dup
NR_148398.2:n.1517dup
NR_148399.2:n.2043dup
NR_148400.2:n.1642dup