Canonical Allele Identifier: CA1129597041
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v3: 9-131515640-A-ATCACACGGAGCACTTCC
gnomAD v4: 9-131515640-A-ATCACACGGAGCACTTCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515643_131515659dup , CM000671.2:g.131515643_131515659dup GRCh38
NC_000009.11:g.134391030_134391046dup , CM000671.1:g.134391030_134391046dup GRCh37
NC_000009.10:g.133380851_133380867dup NCBI36
NG_008896.1:g.17742_17758dup
NG_008896.2:g.17742_17758dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+121_1110+137dup ENSP00000343034.7:n.1110+121_1110+137dup
ENST00000404875.7:n.1812+121_1812+137dup
ENST00000423007.6:c.1329+121_1329+137dup ENSP00000404119.2:n.1329+121_1329+137dup
ENST00000677295.2:c.*1616+121_*1616+137dup ENSP00000504346.2:n.*1616+121_*1616+137dup
ENST00000678264.2:c.*1455+121_*1455+137dup ENSP00000503157.2:n.*1455+121_*1455+137dup
ENST00000682070.1:n.1737+121_1737+137dup
ENST00000682539.1:c.97+121_97+137dup
ENST00000682813.1:n.1537+121_1537+137dup
ENST00000683392.1:n.4019+121_4019+137dup
ENST00000683712.1:n.1677+121_1677+137dup
ENST00000683900.1:n.3172+121_3172+137dup
ENST00000684062.1:n.1938+121_1938+137dup
ENST00000684579.1:n.3118+121_3118+137dup
ENST00000341012.12:c.1110+121_1110+137dup ENSP00000343034.7:n.1110+121_1110+137dup
ENST00000372220.5:c.141+121_141+137dup ENSP00000361294.5:n.141+121_141+137dup
ENST00000372228.9:c.1338+121_1338+137dup ENSP00000361302.3:n.1338+121_1338+137dup
ENST00000402686.8:c.1272+121_1272+137dup MANE Select ENSP00000385797.4:n.1272+121_1272+137dup
ENST00000676640.1:c.1272+121_1272+137dup ENSP00000503281.1:n.1272+121_1272+137dup
ENST00000676803.1:c.447+121_447+137dup ENSP00000503093.1:n.447+121_447+137dup
ENST00000676835.1:c.*487+121_*487+137dup ENSP00000502911.1:n.*487+121_*487+137dup
ENST00000677029.1:c.816+121_816+137dup ENSP00000502936.1:n.816+121_816+137dup
ENST00000677099.1:c.*982+121_*982+137dup ENSP00000504553.1:n.*982+121_*982+137dup
ENST00000677216.1:c.921+121_921+137dup ENSP00000503772.1:n.921+121_921+137dup
ENST00000677295.1:c.*649+121_*649+137dup ENSP00000504346.1:n.*649+121_*649+137dup
ENST00000677444.1:c.1078+121_1078+137dup
ENST00000677586.1:n.753+121_753+137dup
ENST00000677626.1:c.921+121_921+137dup ENSP00000503552.1:n.921+121_921+137dup
ENST00000677677.1:n.1232+121_1232+137dup
ENST00000677853.1:c.*280+121_*280+137dup ENSP00000503488.1:n.*280+121_*280+137dup
ENST00000677944.1:c.534+121_534+137dup
ENST00000678264.1:c.*649+121_*649+137dup ENSP00000503157.1:n.*649+121_*649+137dup
ENST00000678303.1:c.1182+121_1182+137dup ENSP00000503696.1:n.1182+121_1182+137dup
ENST00000678366.1:c.*1521+121_*1521+137dup ENSP00000504353.1:n.*1521+121_*1521+137dup
ENST00000678546.1:c.*1217+121_*1217+137dup ENSP00000503062.1:n.*1217+121_*1217+137dup
ENST00000678548.1:c.*1344+121_*1344+137dup ENSP00000503934.1:n.*1344+121_*1344+137dup
ENST00000678626.1:n.969+121_969+137dup
ENST00000678733.1:c.353+121_353+137dup
ENST00000678739.1:c.*1598+121_*1598+137dup ENSP00000503806.1:n.*1598+121_*1598+137dup
ENST00000678795.1:n.359+121_359+137dup
ENST00000678833.1:c.*719+121_*719+137dup ENSP00000503893.1:n.*719+121_*719+137dup
ENST00000678942.1:c.452+121_452+137dup ENSP00000504690.1:n.452+121_452+137dup
ENST00000679023.1:c.1110+121_1110+137dup ENSP00000503718.1:n.1110+121_1110+137dup
ENST00000679076.1:c.891+121_891+137dup
ENST00000679111.1:c.1272+121_1272+137dup ENSP00000504257.1:n.1272+121_1272+137dup
ENST00000679189.1:c.921+121_921+137dup ENSP00000503356.1:n.921+121_921+137dup
ENST00000341012.11:c.1110+121_1110+137dup ENSP00000343034.7:n.1110+121_1110+137dup
ENST00000372228.7:c.1338+121_1338+137dup ENSP00000361302.3:n.1338+121_1338+137dup
ENST00000402686.7:c.1272+121_1272+137dup ENSP00000385797.3:n.1272+121_1272+137dup
ENST00000404875.6:c.921+121_921+137dup ENSP00000384531.2:n.921+121_921+137dup
ENST00000423007.5:c.1272+121_1272+137dup ENSP00000404119.1:n.1272+121_1272+137dup
ENST00000485278.5:n.1827+121_1827+137dup
NM_001077365.1:c.1272+121_1272+137dup NP_001070833.1:n.1272+121_1272+137dup
NM_001077366.1:c.1110+121_1110+137dup NP_001070834.1:n.1110+121_1110+137dup
NM_001136113.1:c.1272+121_1272+137dup NP_001129585.1:n.1272+121_1272+137dup
NM_001136114.1:c.921+121_921+137dup NP_001129586.1:n.921+121_921+137dup
NM_007171.3:c.1338+121_1338+137dup NP_009102.3:n.1338+121_1338+137dup
XM_005272156.1:c.1338+121_1338+137dup XP_005272213.1:n.1338+121_1338+137dup
XM_005272158.1:c.1176+121_1176+137dup XP_005272215.1:n.1176+121_1176+137dup
XM_005272159.1:c.987+121_987+137dup XP_005272216.1:n.987+121_987+137dup
XM_005272162.1:c.141+121_141+137dup XP_005272219.1:n.141+121_141+137dup
XM_006716932.1:c.987+121_987+137dup XP_006716995.1:n.987+121_987+137dup
XM_011518140.1:c.1191+121_1191+137dup XP_011516442.1:n.1191+121_1191+137dup
XM_011518141.1:c.1125+121_1125+137dup XP_011516443.1:n.1125+121_1125+137dup
XM_011518142.1:c.1029+121_1029+137dup XP_011516444.1:n.1029+121_1029+137dup
XM_011518143.1:c.1023+121_1023+137dup XP_011516445.1:n.1023+121_1023+137dup
XM_011518144.1:c.1338+121_1338+137dup XP_011516446.1:n.1338+121_1338+137dup
XM_011518145.1:c.882+121_882+137dup XP_011516447.1:n.882+121_882+137dup
XM_011518146.1:c.1023+121_1023+137dup XP_011516448.1:n.1023+121_1023+137dup
XR_929703.1:n.1514+121_1514+137dup
NM_001353193.1:c.1338+121_1338+137dup NP_001340122.1:n.1338+121_1338+137dup
NM_001353194.1:c.1110+121_1110+137dup NP_001340123.1:n.1110+121_1110+137dup
NM_001353195.1:c.921+121_921+137dup NP_001340124.1:n.921+121_921+137dup
NM_001353196.1:c.1182+121_1182+137dup NP_001340125.1:n.1182+121_1182+137dup
NM_001353197.1:c.1176+121_1176+137dup NP_001340126.1:n.1176+121_1176+137dup
NM_001353198.1:c.1176+121_1176+137dup NP_001340127.1:n.1176+121_1176+137dup
NM_001353199.1:c.987+121_987+137dup NP_001340128.1:n.987+121_987+137dup
NM_001353200.1:c.816+121_816+137dup NP_001340129.1:n.816+121_816+137dup
NR_148391.1:n.1322+121_1322+137dup
NR_148392.1:n.1540+121_1540+137dup
NR_148393.1:n.1322+121_1322+137dup
NR_148394.1:n.1215+121_1215+137dup
NR_148395.1:n.1474+121_1474+137dup
NR_148396.1:n.1108+121_1108+137dup
NR_148397.1:n.1372+121_1372+137dup
NR_148398.1:n.1327+121_1327+137dup
NR_148399.1:n.1714+121_1714+137dup
NR_148400.1:n.1313+121_1313+137dup
XM_005272162.3:c.141+121_141+137dup XP_005272219.1:n.141+121_141+137dup
XM_006716932.2:c.987+121_987+137dup XP_006716995.1:n.987+121_987+137dup
XM_011518140.2:c.1191+121_1191+137dup XP_011516442.1:n.1191+121_1191+137dup
XM_011518141.2:c.1125+121_1125+137dup XP_011516443.1:n.1125+121_1125+137dup
XM_011518142.2:c.1029+121_1029+137dup XP_011516444.1:n.1029+121_1029+137dup
XM_011518143.2:c.1023+121_1023+137dup XP_011516445.1:n.1023+121_1023+137dup
XM_011518145.2:c.882+121_882+137dup XP_011516447.1:n.882+121_882+137dup
XM_017014205.2:c.141+121_141+137dup XP_016869694.1:n.141+121_141+137dup
XM_024447380.1:c.141+121_141+137dup XP_024303148.1:n.141+121_141+137dup
XM_024447381.1:c.447+121_447+137dup XP_024303149.1:n.447+121_447+137dup
XM_024447382.1:c.141+121_141+137dup XP_024303150.1:n.141+121_141+137dup
XR_001746160.2:n.1442+121_1442+137dup
XR_001746162.2:n.1508+121_1508+137dup
XR_001746164.1:n.1225+121_1225+137dup
XR_001746166.2:n.1659+121_1659+137dup
NM_001077365.2:c.1272+121_1272+137dup MANE Select NP_001070833.1:n.1272+121_1272+137dup
NM_001077366.2:c.1110+121_1110+137dup NP_001070834.1:n.1110+121_1110+137dup
NM_001136113.2:c.1272+121_1272+137dup NP_001129585.1:n.1272+121_1272+137dup
NM_001136114.2:c.921+121_921+137dup NP_001129586.1:n.921+121_921+137dup
NM_001353193.2:c.1338+121_1338+137dup NP_001340122.2:n.1338+121_1338+137dup
NM_001353194.2:c.1110+121_1110+137dup NP_001340123.1:n.1110+121_1110+137dup
NM_001353195.2:c.921+121_921+137dup NP_001340124.1:n.921+121_921+137dup
NM_001353196.2:c.1182+121_1182+137dup NP_001340125.1:n.1182+121_1182+137dup
NM_001353197.2:c.1176+121_1176+137dup NP_001340126.2:n.1176+121_1176+137dup
NM_001353198.2:c.1176+121_1176+137dup NP_001340127.2:n.1176+121_1176+137dup
NM_001353199.2:c.987+121_987+137dup NP_001340128.2:n.987+121_987+137dup
NM_001353200.2:c.816+121_816+137dup NP_001340129.1:n.816+121_816+137dup
NM_001374689.1:c.1260+121_1260+137dup NP_001361618.1:n.1260+121_1260+137dup
NM_001374690.1:c.1272+121_1272+137dup NP_001361619.1:n.1272+121_1272+137dup
NM_001374691.1:c.921+121_921+137dup NP_001361620.1:n.921+121_921+137dup
NM_001374692.1:c.921+121_921+137dup NP_001361621.1:n.921+121_921+137dup
NM_001374693.1:c.921+121_921+137dup NP_001361622.1:n.921+121_921+137dup
NM_001374695.1:c.882+121_882+137dup NP_001361624.1:n.882+121_882+137dup
NM_007171.4:c.1338+121_1338+137dup NP_009102.4:n.1338+121_1338+137dup
NR_148391.2:n.1306+121_1306+137dup
NR_148392.2:n.1524+121_1524+137dup
NR_148393.2:n.1306+121_1306+137dup
NR_148394.2:n.1199+121_1199+137dup
NR_148395.2:n.1458+121_1458+137dup
NR_148396.2:n.1092+121_1092+137dup
NR_148397.2:n.1356+121_1356+137dup
NR_148398.2:n.1311+121_1311+137dup
NR_148399.2:n.1698+121_1698+137dup
NR_148400.2:n.1297+121_1297+137dup
Search 100 bp 5'
Search 100 bp 3'