Canonical Allele Identifier: CA1881757338
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1948226013

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515736_131515737insC , CM000671.2:g.131515736_131515737insC GRCh38
NC_000009.11:g.134391123_134391124insC , CM000671.1:g.134391123_134391124insC GRCh37
NC_000009.10:g.133380944_133380945insC NCBI36
NG_008896.1:g.17835_17836insC
NG_008896.2:g.17835_17836insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+214_1110+215insC ENSP00000343034.7:n.1110+214_1110+215insC
ENST00000404875.7:n.1812+214_1812+215insC
ENST00000423007.6:c.1329+214_1329+215insC ENSP00000404119.2:n.1329+214_1329+215insC
ENST00000677295.2:c.*1616+214_*1616+215insC ENSP00000504346.2:n.*1616+214_*1616+215insC
ENST00000678264.2:c.*1455+214_*1455+215insC ENSP00000503157.2:n.*1455+214_*1455+215insC
ENST00000682070.1:n.1737+214_1737+215insC
ENST00000682539.1:c.97+214_97+215insC
ENST00000682813.1:n.1537+214_1537+215insC
ENST00000683392.1:n.4019+214_4019+215insC
ENST00000683712.1:n.1677+214_1677+215insC
ENST00000683900.1:n.3172+214_3172+215insC
ENST00000684062.1:n.1938+214_1938+215insC
ENST00000684579.1:n.3118+214_3118+215insC
ENST00000341012.12:c.1110+214_1110+215insC ENSP00000343034.7:n.1110+214_1110+215insC
ENST00000372220.5:c.141+214_141+215insC ENSP00000361294.5:n.141+214_141+215insC
ENST00000372228.9:c.1338+214_1338+215insC ENSP00000361302.3:n.1338+214_1338+215insC
ENST00000402686.8:c.1272+214_1272+215insC MANE Select ENSP00000385797.4:n.1272+214_1272+215insC
ENST00000676640.1:c.1272+214_1272+215insC ENSP00000503281.1:n.1272+214_1272+215insC
ENST00000676803.1:c.447+214_447+215insC ENSP00000503093.1:n.447+214_447+215insC
ENST00000676835.1:c.*487+214_*487+215insC ENSP00000502911.1:n.*487+214_*487+215insC
ENST00000677029.1:c.816+214_816+215insC ENSP00000502936.1:n.816+214_816+215insC
ENST00000677099.1:c.*982+214_*982+215insC ENSP00000504553.1:n.*982+214_*982+215insC
ENST00000677216.1:c.921+214_921+215insC ENSP00000503772.1:n.921+214_921+215insC
ENST00000677295.1:c.*649+214_*649+215insC ENSP00000504346.1:n.*649+214_*649+215insC
ENST00000677444.1:c.1078+214_1078+215insC
ENST00000677586.1:n.753+214_753+215insC
ENST00000677626.1:c.921+214_921+215insC ENSP00000503552.1:n.921+214_921+215insC
ENST00000677677.1:n.1232+214_1232+215insC
ENST00000677853.1:c.*280+214_*280+215insC ENSP00000503488.1:n.*280+214_*280+215insC
ENST00000677944.1:c.534+214_534+215insC
ENST00000678264.1:c.*649+214_*649+215insC ENSP00000503157.1:n.*649+214_*649+215insC
ENST00000678303.1:c.1182+214_1182+215insC ENSP00000503696.1:n.1182+214_1182+215insC
ENST00000678366.1:c.*1521+214_*1521+215insC ENSP00000504353.1:n.*1521+214_*1521+215insC
ENST00000678546.1:c.*1217+214_*1217+215insC ENSP00000503062.1:n.*1217+214_*1217+215insC
ENST00000678548.1:c.*1344+214_*1344+215insC ENSP00000503934.1:n.*1344+214_*1344+215insC
ENST00000678626.1:n.969+214_969+215insC
ENST00000678733.1:c.353+214_353+215insC
ENST00000678739.1:c.*1598+214_*1598+215insC ENSP00000503806.1:n.*1598+214_*1598+215insC
ENST00000678795.1:n.359+214_359+215insC
ENST00000678833.1:c.*719+214_*719+215insC ENSP00000503893.1:n.*719+214_*719+215insC
ENST00000678942.1:c.452+214_452+215insC ENSP00000504690.1:n.452+214_452+215insC
ENST00000679023.1:c.1110+214_1110+215insC ENSP00000503718.1:n.1110+214_1110+215insC
ENST00000679076.1:c.891+214_891+215insC
ENST00000679111.1:c.1272+214_1272+215insC ENSP00000504257.1:n.1272+214_1272+215insC
ENST00000679189.1:c.921+214_921+215insC ENSP00000503356.1:n.921+214_921+215insC
ENST00000341012.11:c.1110+214_1110+215insC ENSP00000343034.7:n.1110+214_1110+215insC
ENST00000372228.7:c.1338+214_1338+215insC ENSP00000361302.3:n.1338+214_1338+215insC
ENST00000402686.7:c.1272+214_1272+215insC ENSP00000385797.3:n.1272+214_1272+215insC
ENST00000404875.6:c.921+214_921+215insC ENSP00000384531.2:n.921+214_921+215insC
ENST00000423007.5:c.1272+214_1272+215insC ENSP00000404119.1:n.1272+214_1272+215insC
ENST00000485278.5:n.1827+214_1827+215insC
NM_001077365.1:c.1272+214_1272+215insC NP_001070833.1:n.1272+214_1272+215insC
NM_001077366.1:c.1110+214_1110+215insC NP_001070834.1:n.1110+214_1110+215insC
NM_001136113.1:c.1272+214_1272+215insC NP_001129585.1:n.1272+214_1272+215insC
NM_001136114.1:c.921+214_921+215insC NP_001129586.1:n.921+214_921+215insC
NM_007171.3:c.1338+214_1338+215insC NP_009102.3:n.1338+214_1338+215insC
XM_005272156.1:c.1338+214_1338+215insC XP_005272213.1:n.1338+214_1338+215insC
XM_005272158.1:c.1176+214_1176+215insC XP_005272215.1:n.1176+214_1176+215insC
XM_005272159.1:c.987+214_987+215insC XP_005272216.1:n.987+214_987+215insC
XM_005272162.1:c.141+214_141+215insC XP_005272219.1:n.141+214_141+215insC
XM_006716932.1:c.987+214_987+215insC XP_006716995.1:n.987+214_987+215insC
XM_011518140.1:c.1191+214_1191+215insC XP_011516442.1:n.1191+214_1191+215insC
XM_011518141.1:c.1125+214_1125+215insC XP_011516443.1:n.1125+214_1125+215insC
XM_011518142.1:c.1029+214_1029+215insC XP_011516444.1:n.1029+214_1029+215insC
XM_011518143.1:c.1023+214_1023+215insC XP_011516445.1:n.1023+214_1023+215insC
XM_011518144.1:c.1338+214_1338+215insC XP_011516446.1:n.1338+214_1338+215insC
XM_011518145.1:c.882+214_882+215insC XP_011516447.1:n.882+214_882+215insC
XM_011518146.1:c.1023+214_1023+215insC XP_011516448.1:n.1023+214_1023+215insC
XR_929703.1:n.1514+214_1514+215insC
NM_001353193.1:c.1338+214_1338+215insC NP_001340122.1:n.1338+214_1338+215insC
NM_001353194.1:c.1110+214_1110+215insC NP_001340123.1:n.1110+214_1110+215insC
NM_001353195.1:c.921+214_921+215insC NP_001340124.1:n.921+214_921+215insC
NM_001353196.1:c.1182+214_1182+215insC NP_001340125.1:n.1182+214_1182+215insC
NM_001353197.1:c.1176+214_1176+215insC NP_001340126.1:n.1176+214_1176+215insC
NM_001353198.1:c.1176+214_1176+215insC NP_001340127.1:n.1176+214_1176+215insC
NM_001353199.1:c.987+214_987+215insC NP_001340128.1:n.987+214_987+215insC
NM_001353200.1:c.816+214_816+215insC NP_001340129.1:n.816+214_816+215insC
NR_148391.1:n.1322+214_1322+215insC
NR_148392.1:n.1540+214_1540+215insC
NR_148393.1:n.1322+214_1322+215insC
NR_148394.1:n.1215+214_1215+215insC
NR_148395.1:n.1474+214_1474+215insC
NR_148396.1:n.1108+214_1108+215insC
NR_148397.1:n.1372+214_1372+215insC
NR_148398.1:n.1327+214_1327+215insC
NR_148399.1:n.1714+214_1714+215insC
NR_148400.1:n.1313+214_1313+215insC
XM_005272162.3:c.141+214_141+215insC XP_005272219.1:n.141+214_141+215insC
XM_006716932.2:c.987+214_987+215insC XP_006716995.1:n.987+214_987+215insC
XM_011518140.2:c.1191+214_1191+215insC XP_011516442.1:n.1191+214_1191+215insC
XM_011518141.2:c.1125+214_1125+215insC XP_011516443.1:n.1125+214_1125+215insC
XM_011518142.2:c.1029+214_1029+215insC XP_011516444.1:n.1029+214_1029+215insC
XM_011518143.2:c.1023+214_1023+215insC XP_011516445.1:n.1023+214_1023+215insC
XM_011518145.2:c.882+214_882+215insC XP_011516447.1:n.882+214_882+215insC
XM_017014205.2:c.141+214_141+215insC XP_016869694.1:n.141+214_141+215insC
XM_024447380.1:c.141+214_141+215insC XP_024303148.1:n.141+214_141+215insC
XM_024447381.1:c.447+214_447+215insC XP_024303149.1:n.447+214_447+215insC
XM_024447382.1:c.141+214_141+215insC XP_024303150.1:n.141+214_141+215insC
XR_001746160.2:n.1442+214_1442+215insC
XR_001746162.2:n.1508+214_1508+215insC
XR_001746164.1:n.1225+214_1225+215insC
XR_001746166.2:n.1659+214_1659+215insC
NM_001077365.2:c.1272+214_1272+215insC MANE Select NP_001070833.1:n.1272+214_1272+215insC
NM_001077366.2:c.1110+214_1110+215insC NP_001070834.1:n.1110+214_1110+215insC
NM_001136113.2:c.1272+214_1272+215insC NP_001129585.1:n.1272+214_1272+215insC
NM_001136114.2:c.921+214_921+215insC NP_001129586.1:n.921+214_921+215insC
NM_001353193.2:c.1338+214_1338+215insC NP_001340122.2:n.1338+214_1338+215insC
NM_001353194.2:c.1110+214_1110+215insC NP_001340123.1:n.1110+214_1110+215insC
NM_001353195.2:c.921+214_921+215insC NP_001340124.1:n.921+214_921+215insC
NM_001353196.2:c.1182+214_1182+215insC NP_001340125.1:n.1182+214_1182+215insC
NM_001353197.2:c.1176+214_1176+215insC NP_001340126.2:n.1176+214_1176+215insC
NM_001353198.2:c.1176+214_1176+215insC NP_001340127.2:n.1176+214_1176+215insC
NM_001353199.2:c.987+214_987+215insC NP_001340128.2:n.987+214_987+215insC
NM_001353200.2:c.816+214_816+215insC NP_001340129.1:n.816+214_816+215insC
NM_001374689.1:c.1260+214_1260+215insC NP_001361618.1:n.1260+214_1260+215insC
NM_001374690.1:c.1272+214_1272+215insC NP_001361619.1:n.1272+214_1272+215insC
NM_001374691.1:c.921+214_921+215insC NP_001361620.1:n.921+214_921+215insC
NM_001374692.1:c.921+214_921+215insC NP_001361621.1:n.921+214_921+215insC
NM_001374693.1:c.921+214_921+215insC NP_001361622.1:n.921+214_921+215insC
NM_001374695.1:c.882+214_882+215insC NP_001361624.1:n.882+214_882+215insC
NM_007171.4:c.1338+214_1338+215insC NP_009102.4:n.1338+214_1338+215insC
NR_148391.2:n.1306+214_1306+215insC
NR_148392.2:n.1524+214_1524+215insC
NR_148393.2:n.1306+214_1306+215insC
NR_148394.2:n.1199+214_1199+215insC
NR_148395.2:n.1458+214_1458+215insC
NR_148396.2:n.1092+214_1092+215insC
NR_148397.2:n.1356+214_1356+215insC
NR_148398.2:n.1311+214_1311+215insC
NR_148399.2:n.1698+214_1698+215insC
NR_148400.2:n.1297+214_1297+215insC