Canonical Allele Identifier: CA375315151
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523000C>G , CM000671.2:g.131523000C>G GRCh38
NC_000009.11:g.134398387C>G , CM000671.1:g.134398387C>G GRCh37
NC_000009.10:g.133388208C>G NCBI36
NG_008896.1:g.25099C>G
NG_008896.2:g.25099C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1910C>G ENSP00000343034.7:p.Ser637Cys
ENST00000404875.7:n.2612C>G
ENST00000423007.6:c.2129C>G ENSP00000404119.2:p.Ser710Cys
ENST00000677295.2:c.*2416C>G ENSP00000504346.2:n.*2416C>G
ENST00000678264.2:c.*2255C>G ENSP00000503157.2:n.*2255C>G
ENST00000682070.1:n.2382C>G
ENST00000682639.1:c.69C>G
ENST00000682813.1:n.2469C>G
ENST00000683231.1:c.69C>G
ENST00000683392.1:n.4664C>G
ENST00000683712.1:n.2477C>G
ENST00000683900.1:n.3972C>G
ENST00000684062.1:n.2738C>G
ENST00000684399.1:c.69C>G
ENST00000684579.1:n.3918C>G
ENST00000341012.12:c.1910C>G ENSP00000343034.7:p.Ser637Cys
ENST00000372220.5:c.941C>G ENSP00000361294.5:p.Ser314Cys
ENST00000372228.9:c.2138C>G ENSP00000361302.3:p.Ser713Cys
ENST00000402686.8:c.2072C>G MANE Select ENSP00000385797.4:p.Ser691Cys
ENST00000676640.1:c.2072C>G ENSP00000503281.1:p.Ser691Cys
ENST00000676803.1:c.1133C>G ENSP00000503093.1:p.Ser378Cys
ENST00000676835.1:c.*1287C>G ENSP00000502911.1:n.*1287C>G
ENST00000677029.1:c.1616C>G ENSP00000502936.1:p.Ser539Cys
ENST00000677099.1:c.*1782C>G ENSP00000504553.1:n.*1782C>G
ENST00000677216.1:c.1721C>G ENSP00000503772.1:p.Ser574Cys
ENST00000677221.1:n.1097C>G
ENST00000677295.1:c.*1294C>G ENSP00000504346.1:n.*1294C>G
ENST00000677444.1:c.2017C>G
ENST00000677586.1:n.1439C>G
ENST00000677626.1:c.1721C>G ENSP00000503552.1:p.Ser574Cys
ENST00000677853.1:c.*1080C>G ENSP00000503488.1:n.*1080C>G
ENST00000678264.1:c.*1449C>G ENSP00000503157.1:n.*1449C>G
ENST00000678303.1:c.1982C>G ENSP00000503696.1:p.Ser661Cys
ENST00000678366.1:c.*2321C>G ENSP00000504353.1:n.*2321C>G
ENST00000678546.1:c.*2017C>G ENSP00000503062.1:n.*2017C>G
ENST00000678548.1:c.*2211C>G ENSP00000503934.1:n.*2211C>G
ENST00000678626.1:n.1908C>G
ENST00000678739.1:c.*2238C>G ENSP00000503806.1:n.*2238C>G
ENST00000678833.1:c.*1824C>G ENSP00000503893.1:n.*1824C>G
ENST00000679023.1:c.1910C>G ENSP00000503718.1:p.Ser637Cys
ENST00000679076.1:c.1691C>G
ENST00000679111.1:c.*828C>G ENSP00000504257.1:n.*828C>G
ENST00000679189.1:c.1721C>G ENSP00000503356.1:p.Ser574Cys
ENST00000341012.11:c.1910C>G ENSP00000343034.7:p.Ser637Cys
ENST00000372220.4:c.935C>G ENSP00000361294.4:p.Ser312Cys
ENST00000372228.7:c.2138C>G ENSP00000361302.3:p.Ser713Cys
ENST00000402686.7:c.2072C>G ENSP00000385797.3:p.Ser691Cys
ENST00000404875.6:c.1721C>G ENSP00000384531.2:p.Ser574Cys
ENST00000423007.5:c.2072C>G ENSP00000404119.1:p.Ser691Cys
ENST00000485278.5:n.2622C>G
NM_001077365.1:c.2072C>G NP_001070833.1:p.Ser691Cys
NM_001077366.1:c.1910C>G NP_001070834.1:p.Ser637Cys
NM_001136113.1:c.2072C>G NP_001129585.1:p.Ser691Cys
NM_001136114.1:c.1721C>G NP_001129586.1:p.Ser574Cys
NM_007171.3:c.2138C>G NP_009102.3:p.Ser713Cys
XM_005272156.1:c.2138C>G XP_005272213.1:p.Ser713Cys
XM_005272158.1:c.1976C>G XP_005272215.1:p.Ser659Cys
XM_005272159.1:c.1787C>G XP_005272216.1:p.Ser596Cys
XM_005272162.1:c.941C>G XP_005272219.1:p.Ser314Cys
XM_006716932.1:c.1787C>G XP_006716995.1:p.Ser596Cys
XM_011518140.1:c.1991C>G XP_011516442.1:p.Ser664Cys
XM_011518141.1:c.1925C>G XP_011516443.1:p.Ser642Cys
XM_011518142.1:c.1829C>G XP_011516444.1:p.Ser610Cys
XM_011518143.1:c.1823C>G XP_011516445.1:p.Ser608Cys
XM_011518145.1:c.1682C>G XP_011516447.1:p.Ser561Cys
XM_011518147.1:c.1010C>G XP_011516449.1:p.Ser337Cys
XR_929703.1:n.2314C>G
NM_001353193.1:c.2138C>G NP_001340122.1:p.Ser713Cys
NM_001353194.1:c.1910C>G NP_001340123.1:p.Ser637Cys
NM_001353195.1:c.1721C>G NP_001340124.1:p.Ser574Cys
NM_001353196.1:c.1982C>G NP_001340125.1:p.Ser661Cys
NM_001353197.1:c.1976C>G NP_001340126.1:p.Ser659Cys
NM_001353198.1:c.1976C>G NP_001340127.1:p.Ser659Cys
NM_001353199.1:c.1787C>G NP_001340128.1:p.Ser596Cys
NM_001353200.1:c.1616C>G NP_001340129.1:p.Ser539Cys
NR_148391.1:n.2122C>G
NR_148392.1:n.2340C>G
NR_148393.1:n.2261C>G
NR_148394.1:n.2015C>G
NR_148395.1:n.2413C>G
NR_148396.1:n.2047C>G
NR_148397.1:n.2172C>G
NR_148398.1:n.2127C>G
NR_148399.1:n.2653C>G
NR_148400.1:n.2252C>G
XM_005272162.3:c.941C>G XP_005272219.1:p.Ser314Cys
XM_006716932.2:c.1787C>G XP_006716995.1:p.Ser596Cys
XM_011518140.2:c.1991C>G XP_011516442.1:p.Ser664Cys
XM_011518141.2:c.1925C>G XP_011516443.1:p.Ser642Cys
XM_011518142.2:c.1829C>G XP_011516444.1:p.Ser610Cys
XM_011518143.2:c.1823C>G XP_011516445.1:p.Ser608Cys
XM_011518145.2:c.1682C>G XP_011516447.1:p.Ser561Cys
XM_017014205.2:c.941C>G XP_016869694.1:p.Ser314Cys
XM_024447380.1:c.941C>G XP_024303148.1:p.Ser314Cys
XM_024447381.1:c.1247C>G XP_024303149.1:p.Ser416Cys
XM_024447382.1:c.941C>G XP_024303150.1:p.Ser314Cys
XR_001746160.2:n.2242C>G
XR_001746162.2:n.2447C>G
XR_001746164.1:n.2164C>G
XR_001746166.2:n.2459C>G
NM_001077365.2:c.2072C>G MANE Select NP_001070833.1:p.Ser691Cys
NM_001077366.2:c.1910C>G NP_001070834.1:p.Ser637Cys
NM_001136113.2:c.2072C>G NP_001129585.1:p.Ser691Cys
NM_001136114.2:c.1721C>G NP_001129586.1:p.Ser574Cys
NM_001353193.2:c.2138C>G NP_001340122.2:p.Ser713Cys
NM_001353194.2:c.1910C>G NP_001340123.1:p.Ser637Cys
NM_001353195.2:c.1721C>G NP_001340124.1:p.Ser574Cys
NM_001353196.2:c.1982C>G NP_001340125.1:p.Ser661Cys
NM_001353197.2:c.1976C>G NP_001340126.2:p.Ser659Cys
NM_001353198.2:c.1976C>G NP_001340127.2:p.Ser659Cys
NM_001353199.2:c.1787C>G NP_001340128.2:p.Ser596Cys
NM_001353200.2:c.1616C>G NP_001340129.1:p.Ser539Cys
NM_001374689.1:c.2060C>G NP_001361618.1:p.Ser687Cys
NM_001374690.1:c.1853C>G NP_001361619.1:p.Ser618Cys
NM_001374691.1:c.1721C>G NP_001361620.1:p.Ser574Cys
NM_001374692.1:c.1721C>G NP_001361621.1:p.Ser574Cys
NM_001374693.1:c.1721C>G NP_001361622.1:p.Ser574Cys
NM_001374695.1:c.1682C>G NP_001361624.1:p.Ser561Cys
NM_007171.4:c.2138C>G NP_009102.4:p.Ser713Cys
NR_148391.2:n.2106C>G
NR_148392.2:n.2324C>G
NR_148393.2:n.2245C>G
NR_148394.2:n.1999C>G
NR_148395.2:n.2397C>G
NR_148396.2:n.2031C>G
NR_148397.2:n.2156C>G
NR_148398.2:n.2111C>G
NR_148399.2:n.2637C>G
NR_148400.2:n.2236C>G