Canonical Allele Identifier: CA658657915
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131512101T= , CM000671.2:g.131512101T= GRCh38
NC_000009.11:g.134387488T= , CM000671.1:g.134387488T= GRCh37
NC_000009.10:g.133377309T= NCBI36
NG_008896.2:g.14200T=

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.885T= ENSP00000343034.7:p.Asp295=
ENST00000404875.7:n.1587T=
ENST00000423007.6:c.1104T= ENSP00000404119.2:p.Asp368=
ENST00000677295.2:c.*1391T= ENSP00000504346.2:n.*1391T=
ENST00000678264.2:c.*1230T= ENSP00000503157.2:n.*1230T=
ENST00000678942.2:c.*600T= ENSP00000504690.2:n.*600T=
ENST00000682070.1:n.1512T=
ENST00000682813.1:n.1312T=
ENST00000683392.1:n.3794T=
ENST00000683712.1:n.1452T=
ENST00000683900.1:n.2947T=
ENST00000684062.1:n.1713T=
ENST00000684579.1:n.2893T=
ENST00000341012.12:c.885T= ENSP00000343034.7:p.Asp295=
ENST00000372220.5:c.-85T= ENSP00000361294.5:n.-85T=
ENST00000372228.9:c.1113T= ENSP00000361302.3:p.Asp371=
ENST00000402686.8:c.1047T= MANE Select ENSP00000385797.4:p.Asp349=
ENST00000415075.6:c.*505T= ENSP00000405149.2:n.*505T=
ENST00000676640.1:c.1047T= ENSP00000503281.1:p.Asp349=
ENST00000676803.1:c.222T= ENSP00000503093.1:p.Asp74=
ENST00000676835.1:c.*262T= ENSP00000502911.1:n.*262T=
ENST00000677029.1:c.591T= ENSP00000502936.1:p.Asp197=
ENST00000677099.1:c.*757T= ENSP00000504553.1:n.*757T=
ENST00000677216.1:c.696T= ENSP00000503772.1:p.Asp232=
ENST00000677293.1:c.222T= ENSP00000504278.1:p.Asp74=
ENST00000677295.1:c.*424T= ENSP00000504346.1:n.*424T=
ENST00000677444.1:c.853T=
ENST00000677586.1:n.528T=
ENST00000677626.1:c.824+634T= ENSP00000503552.1:n.824+634T=
ENST00000677677.1:n.1007T=
ENST00000677853.1:c.*55T= ENSP00000503488.1:n.*55T=
ENST00000677944.1:c.309T=
ENST00000678264.1:c.*424T= ENSP00000503157.1:n.*424T=
ENST00000678303.1:c.957T= ENSP00000503696.1:p.Asp319=
ENST00000678366.1:c.*1296T= ENSP00000504353.1:n.*1296T=
ENST00000678546.1:c.*992T= ENSP00000503062.1:n.*992T=
ENST00000678548.1:c.*1119T= ENSP00000503934.1:n.*1119T=
ENST00000678626.1:n.744T=
ENST00000678733.1:c.221T=
ENST00000678739.1:c.*1373T= ENSP00000503806.1:n.*1373T=
ENST00000678795.1:n.134T=
ENST00000678833.1:c.*494T= ENSP00000503893.1:n.*494T=
ENST00000678942.1:c.227T= ENSP00000504690.1:n.227T=
ENST00000679023.1:c.885T= ENSP00000503718.1:p.Asp295=
ENST00000679073.1:c.425T= ENSP00000504356.1:n.425T=
ENST00000679076.1:c.666T=
ENST00000679111.1:c.1047T= ENSP00000504257.1:p.Asp349=
ENST00000679189.1:c.696T= ENSP00000503356.1:p.Asp232=
ENST00000341012.11:c.885T= ENSP00000343034.7:p.Asp295=
ENST00000372228.7:c.1113T= ENSP00000361302.3:p.Asp371=
ENST00000402686.7:c.1047T= ENSP00000385797.3:p.Asp349=
ENST00000404875.6:c.696T= ENSP00000384531.2:p.Asp232=
ENST00000415075.5:c.444T= ENSP00000405149.1:p.Asp148=
ENST00000423007.5:c.1047T= ENSP00000404119.1:p.Asp349=
ENST00000441334.5:c.762T= ENSP00000395060.1:p.Asp254=
ENST00000462375.5:n.873T=
ENST00000485278.5:n.1602T=
XM_005272156.1:c.1113T= XP_005272213.1:p.Asp371=
XM_005272158.1:c.951T= XP_005272215.1:p.Asp317=
XM_005272159.1:c.762T= XP_005272216.1:p.Asp254=
XM_005272162.1:c.-85T= XP_005272219.1:n.-85T=
XM_006716932.1:c.762T= XP_006716995.1:p.Asp254=
XM_011518140.1:c.966T= XP_011516442.1:p.Asp322=
XM_011518141.1:c.900T= XP_011516443.1:p.Asp300=
XM_011518142.1:c.804T= XP_011516444.1:p.Asp268=
XM_011518143.1:c.798T= XP_011516445.1:p.Asp266=
XM_011518144.1:c.1113T= XP_011516446.1:p.Asp371=
XM_011518145.1:c.657T= XP_011516447.1:p.Asp219=
XM_011518146.1:c.798T= XP_011516448.1:p.Asp266=
XR_929703.1:n.1289T=
XM_005272162.3:c.-85T= XP_005272219.1:n.-85T=
XM_006716932.2:c.762T= XP_006716995.1:p.Asp254=
XM_011518140.2:c.966T= XP_011516442.1:p.Asp322=
XM_011518141.2:c.900T= XP_011516443.1:p.Asp300=
XM_011518142.2:c.804T= XP_011516444.1:p.Asp268=
XM_011518143.2:c.798T= XP_011516445.1:p.Asp266=
XM_011518145.2:c.657T= XP_011516447.1:p.Asp219=
XM_017014205.2:c.-85T= XP_016869694.1:n.-85T=
XM_024447380.1:c.-85T= XP_024303148.1:n.-85T=
XM_024447381.1:c.222T= XP_024303149.1:p.Asp74=
XM_024447382.1:c.-85T= XP_024303150.1:n.-85T=
XR_001746160.2:n.1217T=
XR_001746162.2:n.1283T=
XR_001746164.1:n.1000T=
XR_001746166.2:n.1434T=
NM_001077365.2:c.1047T= MANE Select NP_001070833.1:p.Asp349=
NM_001077366.2:c.885T= NP_001070834.1:p.Asp295=
NM_001136113.2:c.1047T= NP_001129585.1:p.Asp349=
NM_001136114.2:c.696T= NP_001129586.1:p.Asp232=
NM_001353193.2:c.1113T= NP_001340122.2:p.Asp371=
NM_001353194.2:c.885T= NP_001340123.1:p.Asp295=
NM_001353195.2:c.696T= NP_001340124.1:p.Asp232=
NM_001353196.2:c.957T= NP_001340125.1:p.Asp319=
NM_001353197.2:c.951T= NP_001340126.2:p.Asp317=
NM_001353198.2:c.951T= NP_001340127.2:p.Asp317=
NM_001353199.2:c.762T= NP_001340128.2:p.Asp254=
NM_001353200.2:c.591T= NP_001340129.1:p.Asp197=
NM_001374689.1:c.1035T= NP_001361618.1:p.Asp345=
NM_001374690.1:c.1047T= NP_001361619.1:p.Asp349=
NM_001374691.1:c.696T= NP_001361620.1:p.Asp232=
NM_001374692.1:c.696T= NP_001361621.1:p.Asp232=
NM_001374693.1:c.824+634T= NP_001361622.1:n.824+634T=
NM_001374695.1:c.657T= NP_001361624.1:p.Asp219=
NM_007171.4:c.1113T= NP_009102.4:p.Asp371=
NR_148391.2:n.1081T=
NR_148392.2:n.1299T=
NR_148393.2:n.1081T=
NR_148394.2:n.974T=
NR_148395.2:n.1233T=
NR_148396.2:n.867T=
NR_148397.2:n.1131T=
NR_148398.2:n.1086T=
NR_148399.2:n.1473T=
NR_148400.2:n.1072T=