Canonical Allele Identifier: CA2539651603
Gene: POMT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515930_131515946dup , CM000671.2:g.131515930_131515946dup GRCh38
NC_000009.11:g.134391317_134391333dup , CM000671.1:g.134391317_134391333dup GRCh37
NC_000009.10:g.133381138_133381154dup NCBI36
NG_008896.1:g.18029_18045dup
NG_008896.2:g.18029_18045dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+408_1110+424dup ENSP00000343034.7:n.1110+408_1110+424dup
ENST00000404875.7:n.1812+408_1812+424dup
ENST00000423007.6:c.1329+408_1329+424dup ENSP00000404119.2:n.1329+408_1329+424dup
ENST00000677295.2:c.*1616+408_*1616+424dup ENSP00000504346.2:n.*1616+408_*1616+424dup
ENST00000678264.2:c.*1455+408_*1455+424dup ENSP00000503157.2:n.*1455+408_*1455+424dup
ENST00000682070.1:n.1737+408_1737+424dup
ENST00000682539.1:c.97+408_97+424dup
ENST00000682813.1:n.1537+408_1537+424dup
ENST00000683392.1:n.4019+408_4019+424dup
ENST00000683712.1:n.1677+408_1677+424dup
ENST00000683900.1:n.3172+408_3172+424dup
ENST00000684062.1:n.1938+408_1938+424dup
ENST00000684579.1:n.3118+408_3118+424dup
ENST00000341012.12:c.1110+408_1110+424dup ENSP00000343034.7:n.1110+408_1110+424dup
ENST00000372220.5:c.141+408_141+424dup ENSP00000361294.5:n.141+408_141+424dup
ENST00000372228.9:c.1338+408_1338+424dup ENSP00000361302.3:n.1338+408_1338+424dup
ENST00000402686.8:c.1272+408_1272+424dup MANE Select ENSP00000385797.4:n.1272+408_1272+424dup
ENST00000676640.1:c.1272+408_1272+424dup ENSP00000503281.1:n.1272+408_1272+424dup
ENST00000676803.1:c.447+408_447+424dup ENSP00000503093.1:n.447+408_447+424dup
ENST00000676835.1:c.*487+408_*487+424dup ENSP00000502911.1:n.*487+408_*487+424dup
ENST00000677029.1:c.816+408_816+424dup ENSP00000502936.1:n.816+408_816+424dup
ENST00000677099.1:c.*982+408_*982+424dup ENSP00000504553.1:n.*982+408_*982+424dup
ENST00000677216.1:c.921+408_921+424dup ENSP00000503772.1:n.921+408_921+424dup
ENST00000677295.1:c.*649+408_*649+424dup ENSP00000504346.1:n.*649+408_*649+424dup
ENST00000677444.1:c.1078+408_1078+424dup
ENST00000677586.1:n.753+408_753+424dup
ENST00000677626.1:c.921+408_921+424dup ENSP00000503552.1:n.921+408_921+424dup
ENST00000677677.1:n.1232+408_1232+424dup
ENST00000677853.1:c.*280+408_*280+424dup ENSP00000503488.1:n.*280+408_*280+424dup
ENST00000677944.1:c.534+408_534+424dup
ENST00000678264.1:c.*649+408_*649+424dup ENSP00000503157.1:n.*649+408_*649+424dup
ENST00000678303.1:c.1182+408_1182+424dup ENSP00000503696.1:n.1182+408_1182+424dup
ENST00000678366.1:c.*1521+408_*1521+424dup ENSP00000504353.1:n.*1521+408_*1521+424dup
ENST00000678546.1:c.*1217+408_*1217+424dup ENSP00000503062.1:n.*1217+408_*1217+424dup
ENST00000678548.1:c.*1344+408_*1344+424dup ENSP00000503934.1:n.*1344+408_*1344+424dup
ENST00000678626.1:n.969+408_969+424dup
ENST00000678733.1:c.353+408_353+424dup
ENST00000678739.1:c.*1598+408_*1598+424dup ENSP00000503806.1:n.*1598+408_*1598+424dup
ENST00000678795.1:n.359+408_359+424dup
ENST00000678833.1:c.*719+408_*719+424dup ENSP00000503893.1:n.*719+408_*719+424dup
ENST00000678942.1:c.452+408_452+424dup ENSP00000504690.1:n.452+408_452+424dup
ENST00000679023.1:c.1110+408_1110+424dup ENSP00000503718.1:n.1110+408_1110+424dup
ENST00000679076.1:c.891+408_891+424dup
ENST00000679111.1:c.1272+408_1272+424dup ENSP00000504257.1:n.1272+408_1272+424dup
ENST00000679189.1:c.921+408_921+424dup ENSP00000503356.1:n.921+408_921+424dup
ENST00000341012.11:c.1110+408_1110+424dup ENSP00000343034.7:n.1110+408_1110+424dup
ENST00000372228.7:c.1338+408_1338+424dup ENSP00000361302.3:n.1338+408_1338+424dup
ENST00000402686.7:c.1272+408_1272+424dup ENSP00000385797.3:n.1272+408_1272+424dup
ENST00000404875.6:c.921+408_921+424dup ENSP00000384531.2:n.921+408_921+424dup
ENST00000423007.5:c.1272+408_1272+424dup ENSP00000404119.1:n.1272+408_1272+424dup
ENST00000485278.5:n.1827+408_1827+424dup
NM_001077365.1:c.1272+408_1272+424dup NP_001070833.1:n.1272+408_1272+424dup
NM_001077366.1:c.1110+408_1110+424dup NP_001070834.1:n.1110+408_1110+424dup
NM_001136113.1:c.1272+408_1272+424dup NP_001129585.1:n.1272+408_1272+424dup
NM_001136114.1:c.921+408_921+424dup NP_001129586.1:n.921+408_921+424dup
NM_007171.3:c.1338+408_1338+424dup NP_009102.3:n.1338+408_1338+424dup
XM_005272156.1:c.1338+408_1338+424dup XP_005272213.1:n.1338+408_1338+424dup
XM_005272158.1:c.1176+408_1176+424dup XP_005272215.1:n.1176+408_1176+424dup
XM_005272159.1:c.987+408_987+424dup XP_005272216.1:n.987+408_987+424dup
XM_005272162.1:c.141+408_141+424dup XP_005272219.1:n.141+408_141+424dup
XM_006716932.1:c.987+408_987+424dup XP_006716995.1:n.987+408_987+424dup
XM_011518140.1:c.1191+408_1191+424dup XP_011516442.1:n.1191+408_1191+424dup
XM_011518141.1:c.1125+408_1125+424dup XP_011516443.1:n.1125+408_1125+424dup
XM_011518142.1:c.1029+408_1029+424dup XP_011516444.1:n.1029+408_1029+424dup
XM_011518143.1:c.1023+408_1023+424dup XP_011516445.1:n.1023+408_1023+424dup
XM_011518144.1:c.1338+408_1338+424dup XP_011516446.1:n.1338+408_1338+424dup
XM_011518145.1:c.882+408_882+424dup XP_011516447.1:n.882+408_882+424dup
XM_011518146.1:c.1023+408_1023+424dup XP_011516448.1:n.1023+408_1023+424dup
XR_929703.1:n.1514+408_1514+424dup
NM_001353193.1:c.1338+408_1338+424dup NP_001340122.1:n.1338+408_1338+424dup
NM_001353194.1:c.1110+408_1110+424dup NP_001340123.1:n.1110+408_1110+424dup
NM_001353195.1:c.921+408_921+424dup NP_001340124.1:n.921+408_921+424dup
NM_001353196.1:c.1182+408_1182+424dup NP_001340125.1:n.1182+408_1182+424dup
NM_001353197.1:c.1176+408_1176+424dup NP_001340126.1:n.1176+408_1176+424dup
NM_001353198.1:c.1176+408_1176+424dup NP_001340127.1:n.1176+408_1176+424dup
NM_001353199.1:c.987+408_987+424dup NP_001340128.1:n.987+408_987+424dup
NM_001353200.1:c.816+408_816+424dup NP_001340129.1:n.816+408_816+424dup
NR_148391.1:n.1322+408_1322+424dup
NR_148392.1:n.1540+408_1540+424dup
NR_148393.1:n.1322+408_1322+424dup
NR_148394.1:n.1215+408_1215+424dup
NR_148395.1:n.1474+408_1474+424dup
NR_148396.1:n.1108+408_1108+424dup
NR_148397.1:n.1372+408_1372+424dup
NR_148398.1:n.1327+408_1327+424dup
NR_148399.1:n.1714+408_1714+424dup
NR_148400.1:n.1313+408_1313+424dup
XM_005272162.3:c.141+408_141+424dup XP_005272219.1:n.141+408_141+424dup
XM_006716932.2:c.987+408_987+424dup XP_006716995.1:n.987+408_987+424dup
XM_011518140.2:c.1191+408_1191+424dup XP_011516442.1:n.1191+408_1191+424dup
XM_011518141.2:c.1125+408_1125+424dup XP_011516443.1:n.1125+408_1125+424dup
XM_011518142.2:c.1029+408_1029+424dup XP_011516444.1:n.1029+408_1029+424dup
XM_011518143.2:c.1023+408_1023+424dup XP_011516445.1:n.1023+408_1023+424dup
XM_011518145.2:c.882+408_882+424dup XP_011516447.1:n.882+408_882+424dup
XM_017014205.2:c.141+408_141+424dup XP_016869694.1:n.141+408_141+424dup
XM_024447380.1:c.141+408_141+424dup XP_024303148.1:n.141+408_141+424dup
XM_024447381.1:c.447+408_447+424dup XP_024303149.1:n.447+408_447+424dup
XM_024447382.1:c.141+408_141+424dup XP_024303150.1:n.141+408_141+424dup
XR_001746160.2:n.1442+408_1442+424dup
XR_001746162.2:n.1508+408_1508+424dup
XR_001746164.1:n.1225+408_1225+424dup
XR_001746166.2:n.1659+408_1659+424dup
NM_001077365.2:c.1272+408_1272+424dup MANE Select NP_001070833.1:n.1272+408_1272+424dup
NM_001077366.2:c.1110+408_1110+424dup NP_001070834.1:n.1110+408_1110+424dup
NM_001136113.2:c.1272+408_1272+424dup NP_001129585.1:n.1272+408_1272+424dup
NM_001136114.2:c.921+408_921+424dup NP_001129586.1:n.921+408_921+424dup
NM_001353193.2:c.1338+408_1338+424dup NP_001340122.2:n.1338+408_1338+424dup
NM_001353194.2:c.1110+408_1110+424dup NP_001340123.1:n.1110+408_1110+424dup
NM_001353195.2:c.921+408_921+424dup NP_001340124.1:n.921+408_921+424dup
NM_001353196.2:c.1182+408_1182+424dup NP_001340125.1:n.1182+408_1182+424dup
NM_001353197.2:c.1176+408_1176+424dup NP_001340126.2:n.1176+408_1176+424dup
NM_001353198.2:c.1176+408_1176+424dup NP_001340127.2:n.1176+408_1176+424dup
NM_001353199.2:c.987+408_987+424dup NP_001340128.2:n.987+408_987+424dup
NM_001353200.2:c.816+408_816+424dup NP_001340129.1:n.816+408_816+424dup
NM_001374689.1:c.1260+408_1260+424dup NP_001361618.1:n.1260+408_1260+424dup
NM_001374690.1:c.1272+408_1272+424dup NP_001361619.1:n.1272+408_1272+424dup
NM_001374691.1:c.921+408_921+424dup NP_001361620.1:n.921+408_921+424dup
NM_001374692.1:c.921+408_921+424dup NP_001361621.1:n.921+408_921+424dup
NM_001374693.1:c.921+408_921+424dup NP_001361622.1:n.921+408_921+424dup
NM_001374695.1:c.882+408_882+424dup NP_001361624.1:n.882+408_882+424dup
NM_007171.4:c.1338+408_1338+424dup NP_009102.4:n.1338+408_1338+424dup
NR_148391.2:n.1306+408_1306+424dup
NR_148392.2:n.1524+408_1524+424dup
NR_148393.2:n.1306+408_1306+424dup
NR_148394.2:n.1199+408_1199+424dup
NR_148395.2:n.1458+408_1458+424dup
NR_148396.2:n.1092+408_1092+424dup
NR_148397.2:n.1356+408_1356+424dup
NR_148398.2:n.1311+408_1311+424dup
NR_148399.2:n.1698+408_1698+424dup
NR_148400.2:n.1297+408_1297+424dup
Search 100 bp 5'
Search 100 bp 3'