Canonical Allele Identifier: CA375314551
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522166A>G , CM000671.2:g.131522166A>G GRCh38
NC_000009.11:g.134397553A>G , CM000671.1:g.134397553A>G GRCh37
NC_000009.10:g.133387374A>G NCBI36
NG_008896.1:g.24265A>G
NG_008896.2:g.24265A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1783A>G ENSP00000343034.7:p.Thr595Ala
ENST00000404875.7:n.2485A>G
ENST00000423007.6:c.2002A>G ENSP00000404119.2:p.Thr668Ala
ENST00000677295.2:c.*2289A>G ENSP00000504346.2:n.*2289A>G
ENST00000678264.2:c.*2128A>G ENSP00000503157.2:n.*2128A>G
ENST00000682070.1:n.2291-36A>G
ENST00000682813.1:n.2349A>G
ENST00000683392.1:n.4573-36A>G
ENST00000683712.1:n.2350A>G
ENST00000683900.1:n.3845A>G
ENST00000684062.1:n.2611A>G
ENST00000684579.1:n.3791A>G
ENST00000684679.1:n.1172A>G
ENST00000341012.12:c.1783A>G ENSP00000343034.7:p.Thr595Ala
ENST00000372220.5:c.814A>G ENSP00000361294.5:p.Thr272Ala
ENST00000372228.9:c.2011A>G ENSP00000361302.3:p.Thr671Ala
ENST00000402686.8:c.1945A>G MANE Select ENSP00000385797.4:p.Thr649Ala
ENST00000676640.1:c.1945A>G ENSP00000503281.1:p.Thr649Ala
ENST00000676803.1:c.1006A>G ENSP00000503093.1:p.Thr336Ala
ENST00000676835.1:c.*1160A>G ENSP00000502911.1:n.*1160A>G
ENST00000677029.1:c.1489A>G ENSP00000502936.1:p.Thr497Ala
ENST00000677099.1:c.*1655A>G ENSP00000504553.1:n.*1655A>G
ENST00000677216.1:c.1594A>G ENSP00000503772.1:p.Thr532Ala
ENST00000677221.1:n.970A>G
ENST00000677295.1:c.*1203-36A>G ENSP00000504346.1:n.*1203-36A>G
ENST00000677444.1:c.1890A>G
ENST00000677586.1:n.1312A>G
ENST00000677626.1:c.1594A>G ENSP00000503552.1:p.Thr532Ala
ENST00000677853.1:c.*953A>G ENSP00000503488.1:n.*953A>G
ENST00000678202.1:n.1104A>G
ENST00000678264.1:c.*1322A>G ENSP00000503157.1:n.*1322A>G
ENST00000678303.1:c.1855A>G ENSP00000503696.1:p.Thr619Ala
ENST00000678366.1:c.*2194A>G ENSP00000504353.1:n.*2194A>G
ENST00000678546.1:c.*1890A>G ENSP00000503062.1:n.*1890A>G
ENST00000678548.1:c.*2084A>G ENSP00000503934.1:n.*2084A>G
ENST00000678626.1:n.1781A>G
ENST00000678739.1:c.*2147-36A>G ENSP00000503806.1:n.*2147-36A>G
ENST00000678833.1:c.*1697A>G ENSP00000503893.1:n.*1697A>G
ENST00000679023.1:c.1783A>G ENSP00000503718.1:p.Thr595Ala
ENST00000679076.1:c.1564A>G
ENST00000679111.1:c.*701A>G ENSP00000504257.1:n.*701A>G
ENST00000679189.1:c.1594A>G ENSP00000503356.1:p.Thr532Ala
ENST00000341012.11:c.1783A>G ENSP00000343034.7:p.Thr595Ala
ENST00000372220.4:c.808A>G ENSP00000361294.4:p.Thr270Ala
ENST00000372228.7:c.2011A>G ENSP00000361302.3:p.Thr671Ala
ENST00000402686.7:c.1945A>G ENSP00000385797.3:p.Thr649Ala
ENST00000404875.6:c.1594A>G ENSP00000384531.2:p.Thr532Ala
ENST00000423007.5:c.1945A>G ENSP00000404119.1:p.Thr649Ala
ENST00000485278.5:n.2495A>G
ENST00000494883.1:n.488A>G
NM_001077365.1:c.1945A>G NP_001070833.1:p.Thr649Ala
NM_001077366.1:c.1783A>G NP_001070834.1:p.Thr595Ala
NM_001136113.1:c.1945A>G NP_001129585.1:p.Thr649Ala
NM_001136114.1:c.1594A>G NP_001129586.1:p.Thr532Ala
NM_007171.3:c.2011A>G NP_009102.3:p.Thr671Ala
XM_005272156.1:c.2011A>G XP_005272213.1:p.Thr671Ala
XM_005272158.1:c.1849A>G XP_005272215.1:p.Thr617Ala
XM_005272159.1:c.1660A>G XP_005272216.1:p.Thr554Ala
XM_005272162.1:c.814A>G XP_005272219.1:p.Thr272Ala
XM_006716932.1:c.1660A>G XP_006716995.1:p.Thr554Ala
XM_011518140.1:c.1864A>G XP_011516442.1:p.Thr622Ala
XM_011518141.1:c.1798A>G XP_011516443.1:p.Thr600Ala
XM_011518142.1:c.1702A>G XP_011516444.1:p.Thr568Ala
XM_011518143.1:c.1696A>G XP_011516445.1:p.Thr566Ala
XM_011518145.1:c.1555A>G XP_011516447.1:p.Thr519Ala
XM_011518147.1:c.883A>G XP_011516449.1:p.Thr295Ala
XR_929703.1:n.2187A>G
NM_001353193.1:c.2011A>G NP_001340122.1:p.Thr671Ala
NM_001353194.1:c.1783A>G NP_001340123.1:p.Thr595Ala
NM_001353195.1:c.1594A>G NP_001340124.1:p.Thr532Ala
NM_001353196.1:c.1855A>G NP_001340125.1:p.Thr619Ala
NM_001353197.1:c.1849A>G NP_001340126.1:p.Thr617Ala
NM_001353198.1:c.1849A>G NP_001340127.1:p.Thr617Ala
NM_001353199.1:c.1660A>G NP_001340128.1:p.Thr554Ala
NM_001353200.1:c.1489A>G NP_001340129.1:p.Thr497Ala
NR_148391.1:n.1995A>G
NR_148392.1:n.2213A>G
NR_148393.1:n.2134A>G
NR_148394.1:n.1888A>G
NR_148395.1:n.2286A>G
NR_148396.1:n.1920A>G
NR_148397.1:n.2045A>G
NR_148398.1:n.2000A>G
NR_148399.1:n.2526A>G
NR_148400.1:n.2125A>G
XM_005272162.3:c.814A>G XP_005272219.1:p.Thr272Ala
XM_006716932.2:c.1660A>G XP_006716995.1:p.Thr554Ala
XM_011518140.2:c.1864A>G XP_011516442.1:p.Thr622Ala
XM_011518141.2:c.1798A>G XP_011516443.1:p.Thr600Ala
XM_011518142.2:c.1702A>G XP_011516444.1:p.Thr568Ala
XM_011518143.2:c.1696A>G XP_011516445.1:p.Thr566Ala
XM_011518145.2:c.1555A>G XP_011516447.1:p.Thr519Ala
XM_017014205.2:c.814A>G XP_016869694.1:p.Thr272Ala
XM_024447380.1:c.814A>G XP_024303148.1:p.Thr272Ala
XM_024447381.1:c.1120A>G XP_024303149.1:p.Thr374Ala
XM_024447382.1:c.814A>G XP_024303150.1:p.Thr272Ala
XR_001746160.2:n.2115A>G
XR_001746162.2:n.2320A>G
XR_001746164.1:n.2037A>G
XR_001746166.2:n.2332A>G
NM_001077365.2:c.1945A>G MANE Select NP_001070833.1:p.Thr649Ala
NM_001077366.2:c.1783A>G NP_001070834.1:p.Thr595Ala
NM_001136113.2:c.1945A>G NP_001129585.1:p.Thr649Ala
NM_001136114.2:c.1594A>G NP_001129586.1:p.Thr532Ala
NM_001353193.2:c.2011A>G NP_001340122.2:p.Thr671Ala
NM_001353194.2:c.1783A>G NP_001340123.1:p.Thr595Ala
NM_001353195.2:c.1594A>G NP_001340124.1:p.Thr532Ala
NM_001353196.2:c.1855A>G NP_001340125.1:p.Thr619Ala
NM_001353197.2:c.1849A>G NP_001340126.2:p.Thr617Ala
NM_001353198.2:c.1849A>G NP_001340127.2:p.Thr617Ala
NM_001353199.2:c.1660A>G NP_001340128.2:p.Thr554Ala
NM_001353200.2:c.1489A>G NP_001340129.1:p.Thr497Ala
NM_001374689.1:c.1933A>G NP_001361618.1:p.Thr645Ala
NM_001374690.1:c.1726A>G NP_001361619.1:p.Thr576Ala
NM_001374691.1:c.1594A>G NP_001361620.1:p.Thr532Ala
NM_001374692.1:c.1594A>G NP_001361621.1:p.Thr532Ala
NM_001374693.1:c.1594A>G NP_001361622.1:p.Thr532Ala
NM_001374695.1:c.1555A>G NP_001361624.1:p.Thr519Ala
NM_007171.4:c.2011A>G NP_009102.4:p.Thr671Ala
NR_148391.2:n.1979A>G
NR_148392.2:n.2197A>G
NR_148393.2:n.2118A>G
NR_148394.2:n.1872A>G
NR_148395.2:n.2270A>G
NR_148396.2:n.1904A>G
NR_148397.2:n.2029A>G
NR_148398.2:n.1984A>G
NR_148399.2:n.2510A>G
NR_148400.2:n.2109A>G