Canonical Allele Identifier: CA375313642
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521365G>T , CM000671.2:g.131521365G>T GRCh38
NC_000009.11:g.134396752G>T , CM000671.1:g.134396752G>T GRCh37
NC_000009.10:g.133386573G>T NCBI36
NG_008896.1:g.23464G>T
NG_008896.2:g.23464G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1556G>T ENSP00000343034.7:p.Gly519Val
ENST00000404875.7:n.2258G>T
ENST00000423007.6:c.1775G>T ENSP00000404119.2:p.Gly592Val
ENST00000677295.2:c.*2062G>T ENSP00000504346.2:n.*2062G>T
ENST00000678264.2:c.*1901G>T ENSP00000503157.2:n.*1901G>T
ENST00000682070.1:n.2183G>T
ENST00000682813.1:n.2122G>T
ENST00000683392.1:n.4465G>T
ENST00000683712.1:n.2123G>T
ENST00000683900.1:n.3618G>T
ENST00000684062.1:n.2384G>T
ENST00000684579.1:n.3564G>T
ENST00000684679.1:n.945G>T
ENST00000341012.12:c.1556G>T ENSP00000343034.7:p.Gly519Val
ENST00000372220.5:c.587G>T ENSP00000361294.5:p.Gly196Val
ENST00000372228.9:c.1784G>T ENSP00000361302.3:p.Gly595Val
ENST00000402686.8:c.1718G>T MANE Select ENSP00000385797.4:p.Gly573Val
ENST00000676640.1:c.1718G>T ENSP00000503281.1:p.Gly573Val
ENST00000676803.1:c.779G>T ENSP00000503093.1:p.Gly260Val
ENST00000676835.1:c.*933G>T ENSP00000502911.1:n.*933G>T
ENST00000677029.1:c.1262G>T ENSP00000502936.1:p.Gly421Val
ENST00000677099.1:c.*1428G>T ENSP00000504553.1:n.*1428G>T
ENST00000677216.1:c.1367G>T ENSP00000503772.1:p.Gly456Val
ENST00000677221.1:n.743G>T
ENST00000677295.1:c.*1095G>T ENSP00000504346.1:n.*1095G>T
ENST00000677444.1:c.1663G>T
ENST00000677586.1:n.1085G>T
ENST00000677626.1:c.1367G>T ENSP00000503552.1:p.Gly456Val
ENST00000677853.1:c.*726G>T ENSP00000503488.1:n.*726G>T
ENST00000678202.1:n.877G>T
ENST00000678264.1:c.*1095G>T ENSP00000503157.1:n.*1095G>T
ENST00000678303.1:c.1628G>T ENSP00000503696.1:p.Gly543Val
ENST00000678366.1:c.*1967G>T ENSP00000504353.1:n.*1967G>T
ENST00000678546.1:c.*1663G>T ENSP00000503062.1:n.*1663G>T
ENST00000678548.1:c.*1790G>T ENSP00000503934.1:n.*1790G>T
ENST00000678626.1:n.1554G>T
ENST00000678739.1:c.*2039G>T ENSP00000503806.1:n.*2039G>T
ENST00000678833.1:c.*1470G>T ENSP00000503893.1:n.*1470G>T
ENST00000679023.1:c.1556G>T ENSP00000503718.1:p.Gly519Val
ENST00000679076.1:c.1337G>T
ENST00000679111.1:c.*474G>T ENSP00000504257.1:n.*474G>T
ENST00000679189.1:c.1367G>T ENSP00000503356.1:p.Gly456Val
ENST00000341012.11:c.1556G>T ENSP00000343034.7:p.Gly519Val
ENST00000372220.4:c.581G>T ENSP00000361294.4:p.Gly194Val
ENST00000372228.7:c.1784G>T ENSP00000361302.3:p.Gly595Val
ENST00000402686.7:c.1718G>T ENSP00000385797.3:p.Gly573Val
ENST00000404875.6:c.1367G>T ENSP00000384531.2:p.Gly456Val
ENST00000423007.5:c.1718G>T ENSP00000404119.1:p.Gly573Val
ENST00000467848.1:n.422G>T
ENST00000485278.5:n.2268G>T
ENST00000494883.1:n.261G>T
NM_001077365.1:c.1718G>T NP_001070833.1:p.Gly573Val
NM_001077366.1:c.1556G>T NP_001070834.1:p.Gly519Val
NM_001136113.1:c.1718G>T NP_001129585.1:p.Gly573Val
NM_001136114.1:c.1367G>T NP_001129586.1:p.Gly456Val
NM_007171.3:c.1784G>T NP_009102.3:p.Gly595Val
XM_005272156.1:c.1784G>T XP_005272213.1:p.Gly595Val
XM_005272158.1:c.1622G>T XP_005272215.1:p.Gly541Val
XM_005272159.1:c.1433G>T XP_005272216.1:p.Gly478Val
XM_005272162.1:c.587G>T XP_005272219.1:p.Gly196Val
XM_006716932.1:c.1433G>T XP_006716995.1:p.Gly478Val
XM_011518140.1:c.1637G>T XP_011516442.1:p.Gly546Val
XM_011518141.1:c.1571G>T XP_011516443.1:p.Gly524Val
XM_011518142.1:c.1475G>T XP_011516444.1:p.Gly492Val
XM_011518143.1:c.1469G>T XP_011516445.1:p.Gly490Val
XM_011518145.1:c.1328G>T XP_011516447.1:p.Gly443Val
XM_011518147.1:c.656G>T XP_011516449.1:p.Gly219Val
XR_929703.1:n.1960G>T
NM_001353193.1:c.1784G>T NP_001340122.1:p.Gly595Val
NM_001353194.1:c.1556G>T NP_001340123.1:p.Gly519Val
NM_001353195.1:c.1367G>T NP_001340124.1:p.Gly456Val
NM_001353196.1:c.1628G>T NP_001340125.1:p.Gly543Val
NM_001353197.1:c.1622G>T NP_001340126.1:p.Gly541Val
NM_001353198.1:c.1622G>T NP_001340127.1:p.Gly541Val
NM_001353199.1:c.1433G>T NP_001340128.1:p.Gly478Val
NM_001353200.1:c.1262G>T NP_001340129.1:p.Gly421Val
NR_148391.1:n.1768G>T
NR_148392.1:n.1986G>T
NR_148393.1:n.1907G>T
NR_148394.1:n.1661G>T
NR_148395.1:n.2059G>T
NR_148396.1:n.1693G>T
NR_148397.1:n.1818G>T
NR_148398.1:n.1773G>T
NR_148399.1:n.2299G>T
NR_148400.1:n.1898G>T
XM_005272162.3:c.587G>T XP_005272219.1:p.Gly196Val
XM_006716932.2:c.1433G>T XP_006716995.1:p.Gly478Val
XM_011518140.2:c.1637G>T XP_011516442.1:p.Gly546Val
XM_011518141.2:c.1571G>T XP_011516443.1:p.Gly524Val
XM_011518142.2:c.1475G>T XP_011516444.1:p.Gly492Val
XM_011518143.2:c.1469G>T XP_011516445.1:p.Gly490Val
XM_011518145.2:c.1328G>T XP_011516447.1:p.Gly443Val
XM_017014205.2:c.587G>T XP_016869694.1:p.Gly196Val
XM_024447380.1:c.587G>T XP_024303148.1:p.Gly196Val
XM_024447381.1:c.893G>T XP_024303149.1:p.Gly298Val
XM_024447382.1:c.587G>T XP_024303150.1:p.Gly196Val
XR_001746160.2:n.1888G>T
XR_001746162.2:n.2093G>T
XR_001746164.1:n.1810G>T
XR_001746166.2:n.2105G>T
NM_001077365.2:c.1718G>T MANE Select NP_001070833.1:p.Gly573Val
NM_001077366.2:c.1556G>T NP_001070834.1:p.Gly519Val
NM_001136113.2:c.1718G>T NP_001129585.1:p.Gly573Val
NM_001136114.2:c.1367G>T NP_001129586.1:p.Gly456Val
NM_001353193.2:c.1784G>T NP_001340122.2:p.Gly595Val
NM_001353194.2:c.1556G>T NP_001340123.1:p.Gly519Val
NM_001353195.2:c.1367G>T NP_001340124.1:p.Gly456Val
NM_001353196.2:c.1628G>T NP_001340125.1:p.Gly543Val
NM_001353197.2:c.1622G>T NP_001340126.2:p.Gly541Val
NM_001353198.2:c.1622G>T NP_001340127.2:p.Gly541Val
NM_001353199.2:c.1433G>T NP_001340128.2:p.Gly478Val
NM_001353200.2:c.1262G>T NP_001340129.1:p.Gly421Val
NM_001374689.1:c.1706G>T NP_001361618.1:p.Gly569Val
NM_001374690.1:c.1499G>T NP_001361619.1:p.Gly500Val
NM_001374691.1:c.1367G>T NP_001361620.1:p.Gly456Val
NM_001374692.1:c.1367G>T NP_001361621.1:p.Gly456Val
NM_001374693.1:c.1367G>T NP_001361622.1:p.Gly456Val
NM_001374695.1:c.1328G>T NP_001361624.1:p.Gly443Val
NM_007171.4:c.1784G>T NP_009102.4:p.Gly595Val
NR_148391.2:n.1752G>T
NR_148392.2:n.1970G>T
NR_148393.2:n.1891G>T
NR_148394.2:n.1645G>T
NR_148395.2:n.2043G>T
NR_148396.2:n.1677G>T
NR_148397.2:n.1802G>T
NR_148398.2:n.1757G>T
NR_148399.2:n.2283G>T
NR_148400.2:n.1882G>T