Canonical Allele Identifier: CA375311158
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518463T>G , CM000671.2:g.131518463T>G GRCh38
NC_000009.11:g.134393850T>G , CM000671.1:g.134393850T>G GRCh37
NC_000009.10:g.133383671T>G NCBI36
NG_008896.1:g.20562T>G
NG_008896.2:g.20562T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1129T>G ENSP00000343034.7:p.Ser377Ala
ENST00000404875.7:n.1831T>G
ENST00000423007.6:c.1348T>G ENSP00000404119.2:p.Ser450Ala
ENST00000677295.2:c.*1635T>G ENSP00000504346.2:n.*1635T>G
ENST00000678264.2:c.*1474T>G ENSP00000503157.2:n.*1474T>G
ENST00000682070.1:n.1756T>G
ENST00000682535.1:n.63T>G
ENST00000682539.1:c.229T>G
ENST00000682813.1:n.1556T>G
ENST00000683110.1:n.19T>G
ENST00000683392.1:n.4038T>G
ENST00000683712.1:n.1696T>G
ENST00000683900.1:n.3191T>G
ENST00000684062.1:n.1957T>G
ENST00000684579.1:n.3137T>G
ENST00000684679.1:n.518T>G
ENST00000341012.12:c.1129T>G ENSP00000343034.7:p.Ser377Ala
ENST00000372220.5:c.160T>G ENSP00000361294.5:p.Ser54Ala
ENST00000372228.9:c.1357T>G ENSP00000361302.3:p.Ser453Ala
ENST00000402686.8:c.1291T>G MANE Select ENSP00000385797.4:p.Ser431Ala
ENST00000676640.1:c.1291T>G ENSP00000503281.1:p.Ser431Ala
ENST00000676803.1:c.466T>G ENSP00000503093.1:p.Ser156Ala
ENST00000676835.1:c.*506T>G ENSP00000502911.1:n.*506T>G
ENST00000677029.1:c.835T>G ENSP00000502936.1:p.Ser279Ala
ENST00000677099.1:c.*1001T>G ENSP00000504553.1:n.*1001T>G
ENST00000677216.1:c.940T>G ENSP00000503772.1:p.Ser314Ala
ENST00000677221.1:n.316T>G
ENST00000677295.1:c.*668T>G ENSP00000504346.1:n.*668T>G
ENST00000677444.1:c.1097T>G
ENST00000677586.1:n.772T>G
ENST00000677626.1:c.940T>G ENSP00000503552.1:p.Ser314Ala
ENST00000677677.1:n.1251T>G
ENST00000677853.1:c.*299T>G ENSP00000503488.1:n.*299T>G
ENST00000677983.1:n.380T>G
ENST00000678202.1:n.311T>G
ENST00000678264.1:c.*668T>G ENSP00000503157.1:n.*668T>G
ENST00000678303.1:c.1201T>G ENSP00000503696.1:p.Ser401Ala
ENST00000678366.1:c.*1540T>G ENSP00000504353.1:n.*1540T>G
ENST00000678546.1:c.*1236T>G ENSP00000503062.1:n.*1236T>G
ENST00000678548.1:c.*1363T>G ENSP00000503934.1:n.*1363T>G
ENST00000678626.1:n.988T>G
ENST00000678733.1:c.372T>G
ENST00000678739.1:c.*1617T>G ENSP00000503806.1:n.*1617T>G
ENST00000678795.1:n.378T>G
ENST00000678833.1:c.*738T>G ENSP00000503893.1:n.*738T>G
ENST00000678942.1:c.471T>G ENSP00000504690.1:n.471T>G
ENST00000679023.1:c.1129T>G ENSP00000503718.1:p.Ser377Ala
ENST00000679076.1:c.910T>G
ENST00000679111.1:c.1291T>G ENSP00000504257.1:p.Ser431Ala
ENST00000679189.1:c.940T>G ENSP00000503356.1:p.Ser314Ala
ENST00000341012.11:c.1129T>G ENSP00000343034.7:p.Ser377Ala
ENST00000372220.4:c.154T>G ENSP00000361294.4:p.Ser52Ala
ENST00000372228.7:c.1357T>G ENSP00000361302.3:p.Ser453Ala
ENST00000402686.7:c.1291T>G ENSP00000385797.3:p.Ser431Ala
ENST00000404875.6:c.940T>G ENSP00000384531.2:p.Ser314Ala
ENST00000423007.5:c.1291T>G ENSP00000404119.1:p.Ser431Ala
ENST00000485278.5:n.1846T>G
NM_001077365.1:c.1291T>G NP_001070833.1:p.Ser431Ala
NM_001077366.1:c.1129T>G NP_001070834.1:p.Ser377Ala
NM_001136113.1:c.1291T>G NP_001129585.1:p.Ser431Ala
NM_001136114.1:c.940T>G NP_001129586.1:p.Ser314Ala
NM_007171.3:c.1357T>G NP_009102.3:p.Ser453Ala
XM_005272156.1:c.1357T>G XP_005272213.1:p.Ser453Ala
XM_005272158.1:c.1195T>G XP_005272215.1:p.Ser399Ala
XM_005272159.1:c.1006T>G XP_005272216.1:p.Ser336Ala
XM_005272162.1:c.160T>G XP_005272219.1:p.Ser54Ala
XM_006716932.1:c.1006T>G XP_006716995.1:p.Ser336Ala
XM_011518140.1:c.1210T>G XP_011516442.1:p.Ser404Ala
XM_011518141.1:c.1144T>G XP_011516443.1:p.Ser382Ala
XM_011518142.1:c.1048T>G XP_011516444.1:p.Ser350Ala
XM_011518143.1:c.1042T>G XP_011516445.1:p.Ser348Ala
XM_011518144.1:c.1357T>G XP_011516446.1:p.Ser453Ala
XM_011518145.1:c.901T>G XP_011516447.1:p.Ser301Ala
XM_011518146.1:c.1042T>G XP_011516448.1:p.Ser348Ala
XM_011518147.1:c.229T>G XP_011516449.1:p.Ser77Ala
XR_929703.1:n.1533T>G
NM_001353193.1:c.1357T>G NP_001340122.1:p.Ser453Ala
NM_001353194.1:c.1129T>G NP_001340123.1:p.Ser377Ala
NM_001353195.1:c.940T>G NP_001340124.1:p.Ser314Ala
NM_001353196.1:c.1201T>G NP_001340125.1:p.Ser401Ala
NM_001353197.1:c.1195T>G NP_001340126.1:p.Ser399Ala
NM_001353198.1:c.1195T>G NP_001340127.1:p.Ser399Ala
NM_001353199.1:c.1006T>G NP_001340128.1:p.Ser336Ala
NM_001353200.1:c.835T>G NP_001340129.1:p.Ser279Ala
NR_148391.1:n.1341T>G
NR_148392.1:n.1559T>G
NR_148393.1:n.1341T>G
NR_148394.1:n.1234T>G
NR_148395.1:n.1493T>G
NR_148396.1:n.1127T>G
NR_148397.1:n.1391T>G
NR_148398.1:n.1346T>G
NR_148399.1:n.1733T>G
NR_148400.1:n.1332T>G
XM_005272162.3:c.160T>G XP_005272219.1:p.Ser54Ala
XM_006716932.2:c.1006T>G XP_006716995.1:p.Ser336Ala
XM_011518140.2:c.1210T>G XP_011516442.1:p.Ser404Ala
XM_011518141.2:c.1144T>G XP_011516443.1:p.Ser382Ala
XM_011518142.2:c.1048T>G XP_011516444.1:p.Ser350Ala
XM_011518143.2:c.1042T>G XP_011516445.1:p.Ser348Ala
XM_011518145.2:c.901T>G XP_011516447.1:p.Ser301Ala
XM_017014205.2:c.160T>G XP_016869694.1:p.Ser54Ala
XM_024447380.1:c.160T>G XP_024303148.1:p.Ser54Ala
XM_024447381.1:c.466T>G XP_024303149.1:p.Ser156Ala
XM_024447382.1:c.160T>G XP_024303150.1:p.Ser54Ala
XR_001746160.2:n.1461T>G
XR_001746162.2:n.1527T>G
XR_001746164.1:n.1244T>G
XR_001746166.2:n.1678T>G
NM_001077365.2:c.1291T>G MANE Select NP_001070833.1:p.Ser431Ala
NM_001077366.2:c.1129T>G NP_001070834.1:p.Ser377Ala
NM_001136113.2:c.1291T>G NP_001129585.1:p.Ser431Ala
NM_001136114.2:c.940T>G NP_001129586.1:p.Ser314Ala
NM_001353193.2:c.1357T>G NP_001340122.2:p.Ser453Ala
NM_001353194.2:c.1129T>G NP_001340123.1:p.Ser377Ala
NM_001353195.2:c.940T>G NP_001340124.1:p.Ser314Ala
NM_001353196.2:c.1201T>G NP_001340125.1:p.Ser401Ala
NM_001353197.2:c.1195T>G NP_001340126.2:p.Ser399Ala
NM_001353198.2:c.1195T>G NP_001340127.2:p.Ser399Ala
NM_001353199.2:c.1006T>G NP_001340128.2:p.Ser336Ala
NM_001353200.2:c.835T>G NP_001340129.1:p.Ser279Ala
NM_001374689.1:c.1279T>G NP_001361618.1:p.Ser427Ala
NM_001374690.1:c.1291T>G NP_001361619.1:p.Ser431Ala
NM_001374691.1:c.940T>G NP_001361620.1:p.Ser314Ala
NM_001374692.1:c.940T>G NP_001361621.1:p.Ser314Ala
NM_001374693.1:c.940T>G NP_001361622.1:p.Ser314Ala
NM_001374695.1:c.901T>G NP_001361624.1:p.Ser301Ala
NM_007171.4:c.1357T>G NP_009102.4:p.Ser453Ala
NR_148391.2:n.1325T>G
NR_148392.2:n.1543T>G
NR_148393.2:n.1325T>G
NR_148394.2:n.1218T>G
NR_148395.2:n.1477T>G
NR_148396.2:n.1111T>G
NR_148397.2:n.1375T>G
NR_148398.2:n.1330T>G
NR_148399.2:n.1717T>G
NR_148400.2:n.1316T>G