Canonical Allele Identifier: CA375311982
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518907G>T , CM000671.2:g.131518907G>T GRCh38
NC_000009.11:g.134394294G>T , CM000671.1:g.134394294G>T GRCh37
NC_000009.10:g.133384115G>T NCBI36
NG_008896.1:g.21006G>T
NG_008896.2:g.21006G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1274G>T ENSP00000343034.7:p.Gly425Val
ENST00000404875.7:n.1976G>T
ENST00000423007.6:c.1493G>T ENSP00000404119.2:p.Gly498Val
ENST00000677295.2:c.*1780G>T ENSP00000504346.2:n.*1780G>T
ENST00000678264.2:c.*1619G>T ENSP00000503157.2:n.*1619G>T
ENST00000682070.1:n.1901G>T
ENST00000682539.1:c.374G>T
ENST00000682813.1:n.1840G>T
ENST00000683392.1:n.4183G>T
ENST00000683712.1:n.1841G>T
ENST00000683900.1:n.3336G>T
ENST00000684062.1:n.2102G>T
ENST00000684579.1:n.3282G>T
ENST00000684679.1:n.663G>T
ENST00000341012.12:c.1274G>T ENSP00000343034.7:p.Gly425Val
ENST00000372220.5:c.305G>T ENSP00000361294.5:p.Gly102Val
ENST00000372228.9:c.1502G>T ENSP00000361302.3:p.Gly501Val
ENST00000402686.8:c.1436G>T MANE Select ENSP00000385797.4:p.Gly479Val
ENST00000676640.1:c.1436G>T ENSP00000503281.1:p.Gly479Val
ENST00000676803.1:c.611G>T ENSP00000503093.1:p.Gly204Val
ENST00000676835.1:c.*651G>T ENSP00000502911.1:n.*651G>T
ENST00000677029.1:c.980G>T ENSP00000502936.1:p.Gly327Val
ENST00000677099.1:c.*1146G>T ENSP00000504553.1:n.*1146G>T
ENST00000677216.1:c.1085G>T ENSP00000503772.1:p.Gly362Val
ENST00000677221.1:n.461G>T
ENST00000677295.1:c.*813G>T ENSP00000504346.1:n.*813G>T
ENST00000677444.1:c.1381G>T
ENST00000677586.1:n.917G>T
ENST00000677626.1:c.1085G>T ENSP00000503552.1:p.Gly362Val
ENST00000677677.1:n.1396G>T
ENST00000677853.1:c.*444G>T ENSP00000503488.1:n.*444G>T
ENST00000678202.1:n.595G>T
ENST00000678264.1:c.*813G>T ENSP00000503157.1:n.*813G>T
ENST00000678303.1:c.1346G>T ENSP00000503696.1:p.Gly449Val
ENST00000678366.1:c.*1685G>T ENSP00000504353.1:n.*1685G>T
ENST00000678546.1:c.*1381G>T ENSP00000503062.1:n.*1381G>T
ENST00000678548.1:c.*1508G>T ENSP00000503934.1:n.*1508G>T
ENST00000678626.1:n.1272G>T
ENST00000678733.1:c.517G>T
ENST00000678739.1:c.*1762G>T ENSP00000503806.1:n.*1762G>T
ENST00000678833.1:c.*883G>T ENSP00000503893.1:n.*883G>T
ENST00000679023.1:c.1274G>T ENSP00000503718.1:p.Gly425Val
ENST00000679076.1:c.1055G>T
ENST00000679111.1:c.*192G>T ENSP00000504257.1:n.*192G>T
ENST00000679189.1:c.1085G>T ENSP00000503356.1:p.Gly362Val
ENST00000341012.11:c.1274G>T ENSP00000343034.7:p.Gly425Val
ENST00000372220.4:c.299G>T ENSP00000361294.4:p.Gly100Val
ENST00000372228.7:c.1502G>T ENSP00000361302.3:p.Gly501Val
ENST00000402686.7:c.1436G>T ENSP00000385797.3:p.Gly479Val
ENST00000404875.6:c.1085G>T ENSP00000384531.2:p.Gly362Val
ENST00000423007.5:c.1436G>T ENSP00000404119.1:p.Gly479Val
ENST00000467848.1:n.140G>T
ENST00000485278.5:n.1991G>T
NM_001077365.1:c.1436G>T NP_001070833.1:p.Gly479Val
NM_001077366.1:c.1274G>T NP_001070834.1:p.Gly425Val
NM_001136113.1:c.1436G>T NP_001129585.1:p.Gly479Val
NM_001136114.1:c.1085G>T NP_001129586.1:p.Gly362Val
NM_007171.3:c.1502G>T NP_009102.3:p.Gly501Val
XM_005272156.1:c.1502G>T XP_005272213.1:p.Gly501Val
XM_005272158.1:c.1340G>T XP_005272215.1:p.Gly447Val
XM_005272159.1:c.1151G>T XP_005272216.1:p.Gly384Val
XM_005272162.1:c.305G>T XP_005272219.1:p.Gly102Val
XM_006716932.1:c.1151G>T XP_006716995.1:p.Gly384Val
XM_011518140.1:c.1355G>T XP_011516442.1:p.Gly452Val
XM_011518141.1:c.1289G>T XP_011516443.1:p.Gly430Val
XM_011518142.1:c.1193G>T XP_011516444.1:p.Gly398Val
XM_011518143.1:c.1187G>T XP_011516445.1:p.Gly396Val
XM_011518145.1:c.1046G>T XP_011516447.1:p.Gly349Val
XM_011518147.1:c.374G>T XP_011516449.1:p.Gly125Val
XR_929703.1:n.1678G>T
NM_001353193.1:c.1502G>T NP_001340122.1:p.Gly501Val
NM_001353194.1:c.1274G>T NP_001340123.1:p.Gly425Val
NM_001353195.1:c.1085G>T NP_001340124.1:p.Gly362Val
NM_001353196.1:c.1346G>T NP_001340125.1:p.Gly449Val
NM_001353197.1:c.1340G>T NP_001340126.1:p.Gly447Val
NM_001353198.1:c.1340G>T NP_001340127.1:p.Gly447Val
NM_001353199.1:c.1151G>T NP_001340128.1:p.Gly384Val
NM_001353200.1:c.980G>T NP_001340129.1:p.Gly327Val
NR_148391.1:n.1486G>T
NR_148392.1:n.1704G>T
NR_148393.1:n.1625G>T
NR_148394.1:n.1379G>T
NR_148395.1:n.1777G>T
NR_148396.1:n.1411G>T
NR_148397.1:n.1536G>T
NR_148398.1:n.1491G>T
NR_148399.1:n.2017G>T
NR_148400.1:n.1616G>T
XM_005272162.3:c.305G>T XP_005272219.1:p.Gly102Val
XM_006716932.2:c.1151G>T XP_006716995.1:p.Gly384Val
XM_011518140.2:c.1355G>T XP_011516442.1:p.Gly452Val
XM_011518141.2:c.1289G>T XP_011516443.1:p.Gly430Val
XM_011518142.2:c.1193G>T XP_011516444.1:p.Gly398Val
XM_011518143.2:c.1187G>T XP_011516445.1:p.Gly396Val
XM_011518145.2:c.1046G>T XP_011516447.1:p.Gly349Val
XM_017014205.2:c.305G>T XP_016869694.1:p.Gly102Val
XM_024447380.1:c.305G>T XP_024303148.1:p.Gly102Val
XM_024447381.1:c.611G>T XP_024303149.1:p.Gly204Val
XM_024447382.1:c.305G>T XP_024303150.1:p.Gly102Val
XR_001746160.2:n.1606G>T
XR_001746162.2:n.1811G>T
XR_001746164.1:n.1528G>T
XR_001746166.2:n.1823G>T
NM_001077365.2:c.1436G>T MANE Select NP_001070833.1:p.Gly479Val
NM_001077366.2:c.1274G>T NP_001070834.1:p.Gly425Val
NM_001136113.2:c.1436G>T NP_001129585.1:p.Gly479Val
NM_001136114.2:c.1085G>T NP_001129586.1:p.Gly362Val
NM_001353193.2:c.1502G>T NP_001340122.2:p.Gly501Val
NM_001353194.2:c.1274G>T NP_001340123.1:p.Gly425Val
NM_001353195.2:c.1085G>T NP_001340124.1:p.Gly362Val
NM_001353196.2:c.1346G>T NP_001340125.1:p.Gly449Val
NM_001353197.2:c.1340G>T NP_001340126.2:p.Gly447Val
NM_001353198.2:c.1340G>T NP_001340127.2:p.Gly447Val
NM_001353199.2:c.1151G>T NP_001340128.2:p.Gly384Val
NM_001353200.2:c.980G>T NP_001340129.1:p.Gly327Val
NM_001374689.1:c.1424G>T NP_001361618.1:p.Gly475Val
NM_001374690.1:c.1365+370G>T NP_001361619.1:n.1365+370G>T
NM_001374691.1:c.1085G>T NP_001361620.1:p.Gly362Val
NM_001374692.1:c.1085G>T NP_001361621.1:p.Gly362Val
NM_001374693.1:c.1085G>T NP_001361622.1:p.Gly362Val
NM_001374695.1:c.1046G>T NP_001361624.1:p.Gly349Val
NM_007171.4:c.1502G>T NP_009102.4:p.Gly501Val
NR_148391.2:n.1470G>T
NR_148392.2:n.1688G>T
NR_148393.2:n.1609G>T
NR_148394.2:n.1363G>T
NR_148395.2:n.1761G>T
NR_148396.2:n.1395G>T
NR_148397.2:n.1520G>T
NR_148398.2:n.1475G>T
NR_148399.2:n.2001G>T
NR_148400.2:n.1600G>T