Canonical Allele Identifier: CA918567151
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1554778444

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515772_131515789dup , CM000671.2:g.131515772_131515789dup GRCh38
NC_000009.11:g.134391159_134391176dup , CM000671.1:g.134391159_134391176dup GRCh37
NC_000009.10:g.133380980_133380997dup NCBI36
NG_008896.1:g.17871_17888dup
NG_008896.2:g.17871_17888dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+250_1110+267dup ENSP00000343034.7:n.1110+250_1110+267dup
ENST00000404875.7:n.1812+250_1812+267dup
ENST00000423007.6:c.1329+250_1329+267dup ENSP00000404119.2:n.1329+250_1329+267dup
ENST00000677295.2:c.*1616+250_*1616+267dup ENSP00000504346.2:n.*1616+250_*1616+267dup
ENST00000678264.2:c.*1455+250_*1455+267dup ENSP00000503157.2:n.*1455+250_*1455+267dup
ENST00000682070.1:n.1737+250_1737+267dup
ENST00000682539.1:c.97+250_97+267dup
ENST00000682813.1:n.1537+250_1537+267dup
ENST00000683392.1:n.4019+250_4019+267dup
ENST00000683712.1:n.1677+250_1677+267dup
ENST00000683900.1:n.3172+250_3172+267dup
ENST00000684062.1:n.1938+250_1938+267dup
ENST00000684579.1:n.3118+250_3118+267dup
ENST00000341012.12:c.1110+250_1110+267dup ENSP00000343034.7:n.1110+250_1110+267dup
ENST00000372220.5:c.141+250_141+267dup ENSP00000361294.5:n.141+250_141+267dup
ENST00000372228.9:c.1338+250_1338+267dup ENSP00000361302.3:n.1338+250_1338+267dup
ENST00000402686.8:c.1272+250_1272+267dup MANE Select ENSP00000385797.4:n.1272+250_1272+267dup
ENST00000676640.1:c.1272+250_1272+267dup ENSP00000503281.1:n.1272+250_1272+267dup
ENST00000676803.1:c.447+250_447+267dup ENSP00000503093.1:n.447+250_447+267dup
ENST00000676835.1:c.*487+250_*487+267dup ENSP00000502911.1:n.*487+250_*487+267dup
ENST00000677029.1:c.816+250_816+267dup ENSP00000502936.1:n.816+250_816+267dup
ENST00000677099.1:c.*982+250_*982+267dup ENSP00000504553.1:n.*982+250_*982+267dup
ENST00000677216.1:c.921+250_921+267dup ENSP00000503772.1:n.921+250_921+267dup
ENST00000677295.1:c.*649+250_*649+267dup ENSP00000504346.1:n.*649+250_*649+267dup
ENST00000677444.1:c.1078+250_1078+267dup
ENST00000677586.1:n.753+250_753+267dup
ENST00000677626.1:c.921+250_921+267dup ENSP00000503552.1:n.921+250_921+267dup
ENST00000677677.1:n.1232+250_1232+267dup
ENST00000677853.1:c.*280+250_*280+267dup ENSP00000503488.1:n.*280+250_*280+267dup
ENST00000677944.1:c.534+250_534+267dup
ENST00000678264.1:c.*649+250_*649+267dup ENSP00000503157.1:n.*649+250_*649+267dup
ENST00000678303.1:c.1182+250_1182+267dup ENSP00000503696.1:n.1182+250_1182+267dup
ENST00000678366.1:c.*1521+250_*1521+267dup ENSP00000504353.1:n.*1521+250_*1521+267dup
ENST00000678546.1:c.*1217+250_*1217+267dup ENSP00000503062.1:n.*1217+250_*1217+267dup
ENST00000678548.1:c.*1344+250_*1344+267dup ENSP00000503934.1:n.*1344+250_*1344+267dup
ENST00000678626.1:n.969+250_969+267dup
ENST00000678733.1:c.353+250_353+267dup
ENST00000678739.1:c.*1598+250_*1598+267dup ENSP00000503806.1:n.*1598+250_*1598+267dup
ENST00000678795.1:n.359+250_359+267dup
ENST00000678833.1:c.*719+250_*719+267dup ENSP00000503893.1:n.*719+250_*719+267dup
ENST00000678942.1:c.452+250_452+267dup ENSP00000504690.1:n.452+250_452+267dup
ENST00000679023.1:c.1110+250_1110+267dup ENSP00000503718.1:n.1110+250_1110+267dup
ENST00000679076.1:c.891+250_891+267dup
ENST00000679111.1:c.1272+250_1272+267dup ENSP00000504257.1:n.1272+250_1272+267dup
ENST00000679189.1:c.921+250_921+267dup ENSP00000503356.1:n.921+250_921+267dup
ENST00000341012.11:c.1110+250_1110+267dup ENSP00000343034.7:n.1110+250_1110+267dup
ENST00000372228.7:c.1338+250_1338+267dup ENSP00000361302.3:n.1338+250_1338+267dup
ENST00000402686.7:c.1272+250_1272+267dup ENSP00000385797.3:n.1272+250_1272+267dup
ENST00000404875.6:c.921+250_921+267dup ENSP00000384531.2:n.921+250_921+267dup
ENST00000423007.5:c.1272+250_1272+267dup ENSP00000404119.1:n.1272+250_1272+267dup
ENST00000485278.5:n.1827+250_1827+267dup
NM_001077365.1:c.1272+250_1272+267dup NP_001070833.1:n.1272+250_1272+267dup
NM_001077366.1:c.1110+250_1110+267dup NP_001070834.1:n.1110+250_1110+267dup
NM_001136113.1:c.1272+250_1272+267dup NP_001129585.1:n.1272+250_1272+267dup
NM_001136114.1:c.921+250_921+267dup NP_001129586.1:n.921+250_921+267dup
NM_007171.3:c.1338+250_1338+267dup NP_009102.3:n.1338+250_1338+267dup
XM_005272156.1:c.1338+250_1338+267dup XP_005272213.1:n.1338+250_1338+267dup
XM_005272158.1:c.1176+250_1176+267dup XP_005272215.1:n.1176+250_1176+267dup
XM_005272159.1:c.987+250_987+267dup XP_005272216.1:n.987+250_987+267dup
XM_005272162.1:c.141+250_141+267dup XP_005272219.1:n.141+250_141+267dup
XM_006716932.1:c.987+250_987+267dup XP_006716995.1:n.987+250_987+267dup
XM_011518140.1:c.1191+250_1191+267dup XP_011516442.1:n.1191+250_1191+267dup
XM_011518141.1:c.1125+250_1125+267dup XP_011516443.1:n.1125+250_1125+267dup
XM_011518142.1:c.1029+250_1029+267dup XP_011516444.1:n.1029+250_1029+267dup
XM_011518143.1:c.1023+250_1023+267dup XP_011516445.1:n.1023+250_1023+267dup
XM_011518144.1:c.1338+250_1338+267dup XP_011516446.1:n.1338+250_1338+267dup
XM_011518145.1:c.882+250_882+267dup XP_011516447.1:n.882+250_882+267dup
XM_011518146.1:c.1023+250_1023+267dup XP_011516448.1:n.1023+250_1023+267dup
XR_929703.1:n.1514+250_1514+267dup
NM_001353193.1:c.1338+250_1338+267dup NP_001340122.1:n.1338+250_1338+267dup
NM_001353194.1:c.1110+250_1110+267dup NP_001340123.1:n.1110+250_1110+267dup
NM_001353195.1:c.921+250_921+267dup NP_001340124.1:n.921+250_921+267dup
NM_001353196.1:c.1182+250_1182+267dup NP_001340125.1:n.1182+250_1182+267dup
NM_001353197.1:c.1176+250_1176+267dup NP_001340126.1:n.1176+250_1176+267dup
NM_001353198.1:c.1176+250_1176+267dup NP_001340127.1:n.1176+250_1176+267dup
NM_001353199.1:c.987+250_987+267dup NP_001340128.1:n.987+250_987+267dup
NM_001353200.1:c.816+250_816+267dup NP_001340129.1:n.816+250_816+267dup
NR_148391.1:n.1322+250_1322+267dup
NR_148392.1:n.1540+250_1540+267dup
NR_148393.1:n.1322+250_1322+267dup
NR_148394.1:n.1215+250_1215+267dup
NR_148395.1:n.1474+250_1474+267dup
NR_148396.1:n.1108+250_1108+267dup
NR_148397.1:n.1372+250_1372+267dup
NR_148398.1:n.1327+250_1327+267dup
NR_148399.1:n.1714+250_1714+267dup
NR_148400.1:n.1313+250_1313+267dup
XM_005272162.3:c.141+250_141+267dup XP_005272219.1:n.141+250_141+267dup
XM_006716932.2:c.987+250_987+267dup XP_006716995.1:n.987+250_987+267dup
XM_011518140.2:c.1191+250_1191+267dup XP_011516442.1:n.1191+250_1191+267dup
XM_011518141.2:c.1125+250_1125+267dup XP_011516443.1:n.1125+250_1125+267dup
XM_011518142.2:c.1029+250_1029+267dup XP_011516444.1:n.1029+250_1029+267dup
XM_011518143.2:c.1023+250_1023+267dup XP_011516445.1:n.1023+250_1023+267dup
XM_011518145.2:c.882+250_882+267dup XP_011516447.1:n.882+250_882+267dup
XM_017014205.2:c.141+250_141+267dup XP_016869694.1:n.141+250_141+267dup
XM_024447380.1:c.141+250_141+267dup XP_024303148.1:n.141+250_141+267dup
XM_024447381.1:c.447+250_447+267dup XP_024303149.1:n.447+250_447+267dup
XM_024447382.1:c.141+250_141+267dup XP_024303150.1:n.141+250_141+267dup
XR_001746160.2:n.1442+250_1442+267dup
XR_001746162.2:n.1508+250_1508+267dup
XR_001746164.1:n.1225+250_1225+267dup
XR_001746166.2:n.1659+250_1659+267dup
NM_001077365.2:c.1272+250_1272+267dup MANE Select NP_001070833.1:n.1272+250_1272+267dup
NM_001077366.2:c.1110+250_1110+267dup NP_001070834.1:n.1110+250_1110+267dup
NM_001136113.2:c.1272+250_1272+267dup NP_001129585.1:n.1272+250_1272+267dup
NM_001136114.2:c.921+250_921+267dup NP_001129586.1:n.921+250_921+267dup
NM_001353193.2:c.1338+250_1338+267dup NP_001340122.2:n.1338+250_1338+267dup
NM_001353194.2:c.1110+250_1110+267dup NP_001340123.1:n.1110+250_1110+267dup
NM_001353195.2:c.921+250_921+267dup NP_001340124.1:n.921+250_921+267dup
NM_001353196.2:c.1182+250_1182+267dup NP_001340125.1:n.1182+250_1182+267dup
NM_001353197.2:c.1176+250_1176+267dup NP_001340126.2:n.1176+250_1176+267dup
NM_001353198.2:c.1176+250_1176+267dup NP_001340127.2:n.1176+250_1176+267dup
NM_001353199.2:c.987+250_987+267dup NP_001340128.2:n.987+250_987+267dup
NM_001353200.2:c.816+250_816+267dup NP_001340129.1:n.816+250_816+267dup
NM_001374689.1:c.1260+250_1260+267dup NP_001361618.1:n.1260+250_1260+267dup
NM_001374690.1:c.1272+250_1272+267dup NP_001361619.1:n.1272+250_1272+267dup
NM_001374691.1:c.921+250_921+267dup NP_001361620.1:n.921+250_921+267dup
NM_001374692.1:c.921+250_921+267dup NP_001361621.1:n.921+250_921+267dup
NM_001374693.1:c.921+250_921+267dup NP_001361622.1:n.921+250_921+267dup
NM_001374695.1:c.882+250_882+267dup NP_001361624.1:n.882+250_882+267dup
NM_007171.4:c.1338+250_1338+267dup NP_009102.4:n.1338+250_1338+267dup
NR_148391.2:n.1306+250_1306+267dup
NR_148392.2:n.1524+250_1524+267dup
NR_148393.2:n.1306+250_1306+267dup
NR_148394.2:n.1199+250_1199+267dup
NR_148395.2:n.1458+250_1458+267dup
NR_148396.2:n.1092+250_1092+267dup
NR_148397.2:n.1356+250_1356+267dup
NR_148398.2:n.1311+250_1311+267dup
NR_148399.2:n.1698+250_1698+267dup
NR_148400.2:n.1297+250_1297+267dup