Canonical Allele Identifier: CA2692221018
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518780_131518788dup , CM000671.2:g.131518780_131518788dup GRCh38
NC_000009.11:g.134394167_134394175dup , CM000671.1:g.134394167_134394175dup GRCh37
NC_000009.10:g.133383988_133383996dup NCBI36
NG_008896.1:g.20879_20887dup
NG_008896.2:g.20879_20887dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1204-57_1204-49dup ENSP00000343034.7:n.1204-57_1204-49dup
ENST00000404875.7:n.1906-57_1906-49dup
ENST00000423007.6:c.1423-57_1423-49dup ENSP00000404119.2:n.1423-57_1423-49dup
ENST00000677295.2:c.*1710-57_*1710-49dup ENSP00000504346.2:n.*1710-57_*1710-49dup
ENST00000678264.2:c.*1549-57_*1549-49dup ENSP00000503157.2:n.*1549-57_*1549-49dup
ENST00000682070.1:n.1831-57_1831-49dup
ENST00000682539.1:c.304-57_304-49dup
ENST00000682813.1:n.1713_1721dup
ENST00000683392.1:n.4113-57_4113-49dup
ENST00000683712.1:n.1771-57_1771-49dup
ENST00000683900.1:n.3266-57_3266-49dup
ENST00000684062.1:n.2032-57_2032-49dup
ENST00000684579.1:n.3212-57_3212-49dup
ENST00000684679.1:n.593-57_593-49dup
ENST00000341012.12:c.1204-57_1204-49dup ENSP00000343034.7:n.1204-57_1204-49dup
ENST00000372220.5:c.235-57_235-49dup ENSP00000361294.5:n.235-57_235-49dup
ENST00000372228.9:c.1432-57_1432-49dup ENSP00000361302.3:n.1432-57_1432-49dup
ENST00000402686.8:c.1366-57_1366-49dup MANE Select ENSP00000385797.4:n.1366-57_1366-49dup
ENST00000676640.1:c.1366-57_1366-49dup ENSP00000503281.1:n.1366-57_1366-49dup
ENST00000676803.1:c.541-57_541-49dup ENSP00000503093.1:n.541-57_541-49dup
ENST00000676835.1:c.*581-57_*581-49dup ENSP00000502911.1:n.*581-57_*581-49dup
ENST00000677029.1:c.910-57_910-49dup ENSP00000502936.1:n.910-57_910-49dup
ENST00000677099.1:c.*1076-57_*1076-49dup ENSP00000504553.1:n.*1076-57_*1076-49dup
ENST00000677216.1:c.1015-57_1015-49dup ENSP00000503772.1:n.1015-57_1015-49dup
ENST00000677221.1:n.391-57_391-49dup
ENST00000677295.1:c.*743-57_*743-49dup ENSP00000504346.1:n.*743-57_*743-49dup
ENST00000677444.1:c.1254_1262dup
ENST00000677586.1:n.847-57_847-49dup
ENST00000677626.1:c.1015-57_1015-49dup ENSP00000503552.1:n.1015-57_1015-49dup
ENST00000677677.1:n.1326-57_1326-49dup
ENST00000677853.1:c.*374-57_*374-49dup ENSP00000503488.1:n.*374-57_*374-49dup
ENST00000677983.1:n.537_545dup
ENST00000678202.1:n.468_476dup
ENST00000678264.1:c.*743-57_*743-49dup ENSP00000503157.1:n.*743-57_*743-49dup
ENST00000678303.1:c.1276-57_1276-49dup ENSP00000503696.1:n.1276-57_1276-49dup
ENST00000678366.1:c.*1615-57_*1615-49dup ENSP00000504353.1:n.*1615-57_*1615-49dup
ENST00000678546.1:c.*1311-57_*1311-49dup ENSP00000503062.1:n.*1311-57_*1311-49dup
ENST00000678548.1:c.*1438-57_*1438-49dup ENSP00000503934.1:n.*1438-57_*1438-49dup
ENST00000678626.1:n.1145_1153dup
ENST00000678733.1:c.447-57_447-49dup
ENST00000678739.1:c.*1692-57_*1692-49dup ENSP00000503806.1:n.*1692-57_*1692-49dup
ENST00000678795.1:n.535_543dup
ENST00000678833.1:c.*813-57_*813-49dup ENSP00000503893.1:n.*813-57_*813-49dup
ENST00000679023.1:c.1204-57_1204-49dup ENSP00000503718.1:n.1204-57_1204-49dup
ENST00000679076.1:c.985-57_985-49dup
ENST00000679111.1:c.*65_*73dup ENSP00000504257.1:n.*65_*73dup
ENST00000679189.1:c.1015-57_1015-49dup ENSP00000503356.1:n.1015-57_1015-49dup
ENST00000341012.11:c.1204-57_1204-49dup ENSP00000343034.7:n.1204-57_1204-49dup
ENST00000372220.4:c.229-57_229-49dup ENSP00000361294.4:n.229-57_229-49dup
ENST00000372228.7:c.1432-57_1432-49dup ENSP00000361302.3:n.1432-57_1432-49dup
ENST00000402686.7:c.1366-57_1366-49dup ENSP00000385797.3:n.1366-57_1366-49dup
ENST00000404875.6:c.1015-57_1015-49dup ENSP00000384531.2:n.1015-57_1015-49dup
ENST00000423007.5:c.1366-57_1366-49dup ENSP00000404119.1:n.1366-57_1366-49dup
ENST00000467848.1:n.13_21dup
ENST00000485278.5:n.1921-57_1921-49dup
NM_001077365.1:c.1366-57_1366-49dup NP_001070833.1:n.1366-57_1366-49dup
NM_001077366.1:c.1204-57_1204-49dup NP_001070834.1:n.1204-57_1204-49dup
NM_001136113.1:c.1366-57_1366-49dup NP_001129585.1:n.1366-57_1366-49dup
NM_001136114.1:c.1015-57_1015-49dup NP_001129586.1:n.1015-57_1015-49dup
NM_007171.3:c.1432-57_1432-49dup NP_009102.3:n.1432-57_1432-49dup
XM_005272156.1:c.1432-57_1432-49dup XP_005272213.1:n.1432-57_1432-49dup
XM_005272158.1:c.1270-57_1270-49dup XP_005272215.1:n.1270-57_1270-49dup
XM_005272159.1:c.1081-57_1081-49dup XP_005272216.1:n.1081-57_1081-49dup
XM_005272162.1:c.235-57_235-49dup XP_005272219.1:n.235-57_235-49dup
XM_006716932.1:c.1081-57_1081-49dup XP_006716995.1:n.1081-57_1081-49dup
XM_011518140.1:c.1285-57_1285-49dup XP_011516442.1:n.1285-57_1285-49dup
XM_011518141.1:c.1219-57_1219-49dup XP_011516443.1:n.1219-57_1219-49dup
XM_011518142.1:c.1123-57_1123-49dup XP_011516444.1:n.1123-57_1123-49dup
XM_011518143.1:c.1117-57_1117-49dup XP_011516445.1:n.1117-57_1117-49dup
XM_011518144.1:c.*65_*73dup XP_011516446.1:n.*65_*73dup
XM_011518145.1:c.976-57_976-49dup XP_011516447.1:n.976-57_976-49dup
XM_011518146.1:c.*65_*73dup XP_011516448.1:n.*65_*73dup
XM_011518147.1:c.304-57_304-49dup XP_011516449.1:n.304-57_304-49dup
XR_929703.1:n.1608-57_1608-49dup
NM_001353193.1:c.1432-57_1432-49dup NP_001340122.1:n.1432-57_1432-49dup
NM_001353194.1:c.1204-57_1204-49dup NP_001340123.1:n.1204-57_1204-49dup
NM_001353195.1:c.1015-57_1015-49dup NP_001340124.1:n.1015-57_1015-49dup
NM_001353196.1:c.1276-57_1276-49dup NP_001340125.1:n.1276-57_1276-49dup
NM_001353197.1:c.1270-57_1270-49dup NP_001340126.1:n.1270-57_1270-49dup
NM_001353198.1:c.1270-57_1270-49dup NP_001340127.1:n.1270-57_1270-49dup
NM_001353199.1:c.1081-57_1081-49dup NP_001340128.1:n.1081-57_1081-49dup
NM_001353200.1:c.910-57_910-49dup NP_001340129.1:n.910-57_910-49dup
NR_148391.1:n.1416-57_1416-49dup
NR_148392.1:n.1634-57_1634-49dup
NR_148393.1:n.1498_1506dup
NR_148394.1:n.1309-57_1309-49dup
NR_148395.1:n.1650_1658dup
NR_148396.1:n.1284_1292dup
NR_148397.1:n.1466-57_1466-49dup
NR_148398.1:n.1421-57_1421-49dup
NR_148399.1:n.1890_1898dup
NR_148400.1:n.1489_1497dup
XM_005272162.3:c.235-57_235-49dup XP_005272219.1:n.235-57_235-49dup
XM_006716932.2:c.1081-57_1081-49dup XP_006716995.1:n.1081-57_1081-49dup
XM_011518140.2:c.1285-57_1285-49dup XP_011516442.1:n.1285-57_1285-49dup
XM_011518141.2:c.1219-57_1219-49dup XP_011516443.1:n.1219-57_1219-49dup
XM_011518142.2:c.1123-57_1123-49dup XP_011516444.1:n.1123-57_1123-49dup
XM_011518143.2:c.1117-57_1117-49dup XP_011516445.1:n.1117-57_1117-49dup
XM_011518145.2:c.976-57_976-49dup XP_011516447.1:n.976-57_976-49dup
XM_017014205.2:c.235-57_235-49dup XP_016869694.1:n.235-57_235-49dup
XM_024447380.1:c.235-57_235-49dup XP_024303148.1:n.235-57_235-49dup
XM_024447381.1:c.541-57_541-49dup XP_024303149.1:n.541-57_541-49dup
XM_024447382.1:c.235-57_235-49dup XP_024303150.1:n.235-57_235-49dup
XR_001746160.2:n.1536-57_1536-49dup
XR_001746162.2:n.1684_1692dup
XR_001746164.1:n.1401_1409dup
XR_001746166.2:n.1753-57_1753-49dup
NM_001077365.2:c.1366-57_1366-49dup MANE Select NP_001070833.1:n.1366-57_1366-49dup
NM_001077366.2:c.1204-57_1204-49dup NP_001070834.1:n.1204-57_1204-49dup
NM_001136113.2:c.1366-57_1366-49dup NP_001129585.1:n.1366-57_1366-49dup
NM_001136114.2:c.1015-57_1015-49dup NP_001129586.1:n.1015-57_1015-49dup
NM_001353193.2:c.1432-57_1432-49dup NP_001340122.2:n.1432-57_1432-49dup
NM_001353194.2:c.1204-57_1204-49dup NP_001340123.1:n.1204-57_1204-49dup
NM_001353195.2:c.1015-57_1015-49dup NP_001340124.1:n.1015-57_1015-49dup
NM_001353196.2:c.1276-57_1276-49dup NP_001340125.1:n.1276-57_1276-49dup
NM_001353197.2:c.1270-57_1270-49dup NP_001340126.2:n.1270-57_1270-49dup
NM_001353198.2:c.1270-57_1270-49dup NP_001340127.2:n.1270-57_1270-49dup
NM_001353199.2:c.1081-57_1081-49dup NP_001340128.2:n.1081-57_1081-49dup
NM_001353200.2:c.910-57_910-49dup NP_001340129.1:n.910-57_910-49dup
NM_001374689.1:c.1354-57_1354-49dup NP_001361618.1:n.1354-57_1354-49dup
NM_001374690.1:c.1365+243_1365+251dup NP_001361619.1:n.1365+243_1365+251dup
NM_001374691.1:c.1015-57_1015-49dup NP_001361620.1:n.1015-57_1015-49dup
NM_001374692.1:c.1015-57_1015-49dup NP_001361621.1:n.1015-57_1015-49dup
NM_001374693.1:c.1015-57_1015-49dup NP_001361622.1:n.1015-57_1015-49dup
NM_001374695.1:c.976-57_976-49dup NP_001361624.1:n.976-57_976-49dup
NM_007171.4:c.1432-57_1432-49dup NP_009102.4:n.1432-57_1432-49dup
NR_148391.2:n.1400-57_1400-49dup
NR_148392.2:n.1618-57_1618-49dup
NR_148393.2:n.1482_1490dup
NR_148394.2:n.1293-57_1293-49dup
NR_148395.2:n.1634_1642dup
NR_148396.2:n.1268_1276dup
NR_148397.2:n.1450-57_1450-49dup
NR_148398.2:n.1405-57_1405-49dup
NR_148399.2:n.1874_1882dup
NR_148400.2:n.1473_1481dup