Canonical Allele Identifier: CA1129597819
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1564366882

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515785_131515856dup , CM000671.2:g.131515785_131515856dup GRCh38
NC_000009.11:g.134391172_134391243dup , CM000671.1:g.134391172_134391243dup GRCh37
NC_000009.10:g.133380993_133381064dup NCBI36
NG_008896.1:g.17884_17955dup
NG_008896.2:g.17884_17955dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+263_1110+334dup ENSP00000343034.7:n.1110+263_1110+334dup
ENST00000404875.7:n.1812+263_1812+334dup
ENST00000423007.6:c.1329+263_1329+334dup ENSP00000404119.2:n.1329+263_1329+334dup
ENST00000677295.2:c.*1616+263_*1616+334dup ENSP00000504346.2:n.*1616+263_*1616+334dup
ENST00000678264.2:c.*1455+263_*1455+334dup ENSP00000503157.2:n.*1455+263_*1455+334dup
ENST00000682070.1:n.1737+263_1737+334dup
ENST00000682539.1:c.97+263_97+334dup
ENST00000682813.1:n.1537+263_1537+334dup
ENST00000683392.1:n.4019+263_4019+334dup
ENST00000683712.1:n.1677+263_1677+334dup
ENST00000683900.1:n.3172+263_3172+334dup
ENST00000684062.1:n.1938+263_1938+334dup
ENST00000684579.1:n.3118+263_3118+334dup
ENST00000341012.12:c.1110+263_1110+334dup ENSP00000343034.7:n.1110+263_1110+334dup
ENST00000372220.5:c.141+263_141+334dup ENSP00000361294.5:n.141+263_141+334dup
ENST00000372228.9:c.1338+263_1338+334dup ENSP00000361302.3:n.1338+263_1338+334dup
ENST00000402686.8:c.1272+263_1272+334dup MANE Select ENSP00000385797.4:n.1272+263_1272+334dup
ENST00000676640.1:c.1272+263_1272+334dup ENSP00000503281.1:n.1272+263_1272+334dup
ENST00000676803.1:c.447+263_447+334dup ENSP00000503093.1:n.447+263_447+334dup
ENST00000676835.1:c.*487+263_*487+334dup ENSP00000502911.1:n.*487+263_*487+334dup
ENST00000677029.1:c.816+263_816+334dup ENSP00000502936.1:n.816+263_816+334dup
ENST00000677099.1:c.*982+263_*982+334dup ENSP00000504553.1:n.*982+263_*982+334dup
ENST00000677216.1:c.921+263_921+334dup ENSP00000503772.1:n.921+263_921+334dup
ENST00000677295.1:c.*649+263_*649+334dup ENSP00000504346.1:n.*649+263_*649+334dup
ENST00000677444.1:c.1078+263_1078+334dup
ENST00000677586.1:n.753+263_753+334dup
ENST00000677626.1:c.921+263_921+334dup ENSP00000503552.1:n.921+263_921+334dup
ENST00000677677.1:n.1232+263_1232+334dup
ENST00000677853.1:c.*280+263_*280+334dup ENSP00000503488.1:n.*280+263_*280+334dup
ENST00000677944.1:c.534+263_534+334dup
ENST00000678264.1:c.*649+263_*649+334dup ENSP00000503157.1:n.*649+263_*649+334dup
ENST00000678303.1:c.1182+263_1182+334dup ENSP00000503696.1:n.1182+263_1182+334dup
ENST00000678366.1:c.*1521+263_*1521+334dup ENSP00000504353.1:n.*1521+263_*1521+334dup
ENST00000678546.1:c.*1217+263_*1217+334dup ENSP00000503062.1:n.*1217+263_*1217+334dup
ENST00000678548.1:c.*1344+263_*1344+334dup ENSP00000503934.1:n.*1344+263_*1344+334dup
ENST00000678626.1:n.969+263_969+334dup
ENST00000678733.1:c.353+263_353+334dup
ENST00000678739.1:c.*1598+263_*1598+334dup ENSP00000503806.1:n.*1598+263_*1598+334dup
ENST00000678795.1:n.359+263_359+334dup
ENST00000678833.1:c.*719+263_*719+334dup ENSP00000503893.1:n.*719+263_*719+334dup
ENST00000678942.1:c.452+263_452+334dup ENSP00000504690.1:n.452+263_452+334dup
ENST00000679023.1:c.1110+263_1110+334dup ENSP00000503718.1:n.1110+263_1110+334dup
ENST00000679076.1:c.891+263_891+334dup
ENST00000679111.1:c.1272+263_1272+334dup ENSP00000504257.1:n.1272+263_1272+334dup
ENST00000679189.1:c.921+263_921+334dup ENSP00000503356.1:n.921+263_921+334dup
ENST00000341012.11:c.1110+263_1110+334dup ENSP00000343034.7:n.1110+263_1110+334dup
ENST00000372228.7:c.1338+263_1338+334dup ENSP00000361302.3:n.1338+263_1338+334dup
ENST00000402686.7:c.1272+263_1272+334dup ENSP00000385797.3:n.1272+263_1272+334dup
ENST00000404875.6:c.921+263_921+334dup ENSP00000384531.2:n.921+263_921+334dup
ENST00000423007.5:c.1272+263_1272+334dup ENSP00000404119.1:n.1272+263_1272+334dup
ENST00000485278.5:n.1827+263_1827+334dup
NM_001077365.1:c.1272+263_1272+334dup NP_001070833.1:n.1272+263_1272+334dup
NM_001077366.1:c.1110+263_1110+334dup NP_001070834.1:n.1110+263_1110+334dup
NM_001136113.1:c.1272+263_1272+334dup NP_001129585.1:n.1272+263_1272+334dup
NM_001136114.1:c.921+263_921+334dup NP_001129586.1:n.921+263_921+334dup
NM_007171.3:c.1338+263_1338+334dup NP_009102.3:n.1338+263_1338+334dup
XM_005272156.1:c.1338+263_1338+334dup XP_005272213.1:n.1338+263_1338+334dup
XM_005272158.1:c.1176+263_1176+334dup XP_005272215.1:n.1176+263_1176+334dup
XM_005272159.1:c.987+263_987+334dup XP_005272216.1:n.987+263_987+334dup
XM_005272162.1:c.141+263_141+334dup XP_005272219.1:n.141+263_141+334dup
XM_006716932.1:c.987+263_987+334dup XP_006716995.1:n.987+263_987+334dup
XM_011518140.1:c.1191+263_1191+334dup XP_011516442.1:n.1191+263_1191+334dup
XM_011518141.1:c.1125+263_1125+334dup XP_011516443.1:n.1125+263_1125+334dup
XM_011518142.1:c.1029+263_1029+334dup XP_011516444.1:n.1029+263_1029+334dup
XM_011518143.1:c.1023+263_1023+334dup XP_011516445.1:n.1023+263_1023+334dup
XM_011518144.1:c.1338+263_1338+334dup XP_011516446.1:n.1338+263_1338+334dup
XM_011518145.1:c.882+263_882+334dup XP_011516447.1:n.882+263_882+334dup
XM_011518146.1:c.1023+263_1023+334dup XP_011516448.1:n.1023+263_1023+334dup
XR_929703.1:n.1514+263_1514+334dup
NM_001353193.1:c.1338+263_1338+334dup NP_001340122.1:n.1338+263_1338+334dup
NM_001353194.1:c.1110+263_1110+334dup NP_001340123.1:n.1110+263_1110+334dup
NM_001353195.1:c.921+263_921+334dup NP_001340124.1:n.921+263_921+334dup
NM_001353196.1:c.1182+263_1182+334dup NP_001340125.1:n.1182+263_1182+334dup
NM_001353197.1:c.1176+263_1176+334dup NP_001340126.1:n.1176+263_1176+334dup
NM_001353198.1:c.1176+263_1176+334dup NP_001340127.1:n.1176+263_1176+334dup
NM_001353199.1:c.987+263_987+334dup NP_001340128.1:n.987+263_987+334dup
NM_001353200.1:c.816+263_816+334dup NP_001340129.1:n.816+263_816+334dup
NR_148391.1:n.1322+263_1322+334dup
NR_148392.1:n.1540+263_1540+334dup
NR_148393.1:n.1322+263_1322+334dup
NR_148394.1:n.1215+263_1215+334dup
NR_148395.1:n.1474+263_1474+334dup
NR_148396.1:n.1108+263_1108+334dup
NR_148397.1:n.1372+263_1372+334dup
NR_148398.1:n.1327+263_1327+334dup
NR_148399.1:n.1714+263_1714+334dup
NR_148400.1:n.1313+263_1313+334dup
XM_005272162.3:c.141+263_141+334dup XP_005272219.1:n.141+263_141+334dup
XM_006716932.2:c.987+263_987+334dup XP_006716995.1:n.987+263_987+334dup
XM_011518140.2:c.1191+263_1191+334dup XP_011516442.1:n.1191+263_1191+334dup
XM_011518141.2:c.1125+263_1125+334dup XP_011516443.1:n.1125+263_1125+334dup
XM_011518142.2:c.1029+263_1029+334dup XP_011516444.1:n.1029+263_1029+334dup
XM_011518143.2:c.1023+263_1023+334dup XP_011516445.1:n.1023+263_1023+334dup
XM_011518145.2:c.882+263_882+334dup XP_011516447.1:n.882+263_882+334dup
XM_017014205.2:c.141+263_141+334dup XP_016869694.1:n.141+263_141+334dup
XM_024447380.1:c.141+263_141+334dup XP_024303148.1:n.141+263_141+334dup
XM_024447381.1:c.447+263_447+334dup XP_024303149.1:n.447+263_447+334dup
XM_024447382.1:c.141+263_141+334dup XP_024303150.1:n.141+263_141+334dup
XR_001746160.2:n.1442+263_1442+334dup
XR_001746162.2:n.1508+263_1508+334dup
XR_001746164.1:n.1225+263_1225+334dup
XR_001746166.2:n.1659+263_1659+334dup
NM_001077365.2:c.1272+263_1272+334dup MANE Select NP_001070833.1:n.1272+263_1272+334dup
NM_001077366.2:c.1110+263_1110+334dup NP_001070834.1:n.1110+263_1110+334dup
NM_001136113.2:c.1272+263_1272+334dup NP_001129585.1:n.1272+263_1272+334dup
NM_001136114.2:c.921+263_921+334dup NP_001129586.1:n.921+263_921+334dup
NM_001353193.2:c.1338+263_1338+334dup NP_001340122.2:n.1338+263_1338+334dup
NM_001353194.2:c.1110+263_1110+334dup NP_001340123.1:n.1110+263_1110+334dup
NM_001353195.2:c.921+263_921+334dup NP_001340124.1:n.921+263_921+334dup
NM_001353196.2:c.1182+263_1182+334dup NP_001340125.1:n.1182+263_1182+334dup
NM_001353197.2:c.1176+263_1176+334dup NP_001340126.2:n.1176+263_1176+334dup
NM_001353198.2:c.1176+263_1176+334dup NP_001340127.2:n.1176+263_1176+334dup
NM_001353199.2:c.987+263_987+334dup NP_001340128.2:n.987+263_987+334dup
NM_001353200.2:c.816+263_816+334dup NP_001340129.1:n.816+263_816+334dup
NM_001374689.1:c.1260+263_1260+334dup NP_001361618.1:n.1260+263_1260+334dup
NM_001374690.1:c.1272+263_1272+334dup NP_001361619.1:n.1272+263_1272+334dup
NM_001374691.1:c.921+263_921+334dup NP_001361620.1:n.921+263_921+334dup
NM_001374692.1:c.921+263_921+334dup NP_001361621.1:n.921+263_921+334dup
NM_001374693.1:c.921+263_921+334dup NP_001361622.1:n.921+263_921+334dup
NM_001374695.1:c.882+263_882+334dup NP_001361624.1:n.882+263_882+334dup
NM_007171.4:c.1338+263_1338+334dup NP_009102.4:n.1338+263_1338+334dup
NR_148391.2:n.1306+263_1306+334dup
NR_148392.2:n.1524+263_1524+334dup
NR_148393.2:n.1306+263_1306+334dup
NR_148394.2:n.1199+263_1199+334dup
NR_148395.2:n.1458+263_1458+334dup
NR_148396.2:n.1092+263_1092+334dup
NR_148397.2:n.1356+263_1356+334dup
NR_148398.2:n.1311+263_1311+334dup
NR_148399.2:n.1698+263_1698+334dup
NR_148400.2:n.1297+263_1297+334dup