Canonical Allele Identifier: CA2740092888
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2942394
ClinVar RCV Id: RCV003805608

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518825_131518826dup , CM000671.2:g.131518825_131518826dup GRCh38
NC_000009.11:g.134394212_134394213dup , CM000671.1:g.134394212_134394213dup GRCh37
NC_000009.10:g.133384033_133384034dup NCBI36
NG_008896.1:g.20924_20925dup
NG_008896.2:g.20924_20925dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1204-12_1204-11dup ENSP00000343034.7:n.1204-12_1204-11dup
ENST00000404875.7:n.1906-12_1906-11dup
ENST00000423007.6:c.1423-12_1423-11dup ENSP00000404119.2:n.1423-12_1423-11dup
ENST00000677295.2:c.*1710-12_*1710-11dup ENSP00000504346.2:n.*1710-12_*1710-11dup
ENST00000678264.2:c.*1549-12_*1549-11dup ENSP00000503157.2:n.*1549-12_*1549-11dup
ENST00000682070.1:n.1831-12_1831-11dup
ENST00000682539.1:c.304-12_304-11dup
ENST00000682813.1:n.1758_1759dup
ENST00000683392.1:n.4113-12_4113-11dup
ENST00000683712.1:n.1771-12_1771-11dup
ENST00000683900.1:n.3266-12_3266-11dup
ENST00000684062.1:n.2032-12_2032-11dup
ENST00000684579.1:n.3212-12_3212-11dup
ENST00000684679.1:n.593-12_593-11dup
ENST00000341012.12:c.1204-12_1204-11dup ENSP00000343034.7:n.1204-12_1204-11dup
ENST00000372220.5:c.235-12_235-11dup ENSP00000361294.5:n.235-12_235-11dup
ENST00000372228.9:c.1432-12_1432-11dup ENSP00000361302.3:n.1432-12_1432-11dup
ENST00000402686.8:c.1366-12_1366-11dup MANE Select ENSP00000385797.4:n.1366-12_1366-11dup
ENST00000676640.1:c.1366-12_1366-11dup ENSP00000503281.1:n.1366-12_1366-11dup
ENST00000676803.1:c.541-12_541-11dup ENSP00000503093.1:n.541-12_541-11dup
ENST00000676835.1:c.*581-12_*581-11dup ENSP00000502911.1:n.*581-12_*581-11dup
ENST00000677029.1:c.910-12_910-11dup ENSP00000502936.1:n.910-12_910-11dup
ENST00000677099.1:c.*1076-12_*1076-11dup ENSP00000504553.1:n.*1076-12_*1076-11dup
ENST00000677216.1:c.1015-12_1015-11dup ENSP00000503772.1:n.1015-12_1015-11dup
ENST00000677221.1:n.391-12_391-11dup
ENST00000677295.1:c.*743-12_*743-11dup ENSP00000504346.1:n.*743-12_*743-11dup
ENST00000677444.1:c.1299_1300dup
ENST00000677586.1:n.847-12_847-11dup
ENST00000677626.1:c.1015-12_1015-11dup ENSP00000503552.1:n.1015-12_1015-11dup
ENST00000677677.1:n.1326-12_1326-11dup
ENST00000677853.1:c.*374-12_*374-11dup ENSP00000503488.1:n.*374-12_*374-11dup
ENST00000678202.1:n.513_514dup
ENST00000678264.1:c.*743-12_*743-11dup ENSP00000503157.1:n.*743-12_*743-11dup
ENST00000678303.1:c.1276-12_1276-11dup ENSP00000503696.1:n.1276-12_1276-11dup
ENST00000678366.1:c.*1615-12_*1615-11dup ENSP00000504353.1:n.*1615-12_*1615-11dup
ENST00000678546.1:c.*1311-12_*1311-11dup ENSP00000503062.1:n.*1311-12_*1311-11dup
ENST00000678548.1:c.*1438-12_*1438-11dup ENSP00000503934.1:n.*1438-12_*1438-11dup
ENST00000678626.1:n.1190_1191dup
ENST00000678733.1:c.447-12_447-11dup
ENST00000678739.1:c.*1692-12_*1692-11dup ENSP00000503806.1:n.*1692-12_*1692-11dup
ENST00000678833.1:c.*813-12_*813-11dup ENSP00000503893.1:n.*813-12_*813-11dup
ENST00000679023.1:c.1204-12_1204-11dup ENSP00000503718.1:n.1204-12_1204-11dup
ENST00000679076.1:c.985-12_985-11dup
ENST00000679111.1:c.*110_*111dup ENSP00000504257.1:n.*110_*111dup
ENST00000679189.1:c.1015-12_1015-11dup ENSP00000503356.1:n.1015-12_1015-11dup
ENST00000341012.11:c.1204-12_1204-11dup ENSP00000343034.7:n.1204-12_1204-11dup
ENST00000372220.4:c.229-12_229-11dup ENSP00000361294.4:n.229-12_229-11dup
ENST00000372228.7:c.1432-12_1432-11dup ENSP00000361302.3:n.1432-12_1432-11dup
ENST00000402686.7:c.1366-12_1366-11dup ENSP00000385797.3:n.1366-12_1366-11dup
ENST00000404875.6:c.1015-12_1015-11dup ENSP00000384531.2:n.1015-12_1015-11dup
ENST00000423007.5:c.1366-12_1366-11dup ENSP00000404119.1:n.1366-12_1366-11dup
ENST00000467848.1:n.58_59dup
ENST00000485278.5:n.1921-12_1921-11dup
NM_001077365.1:c.1366-12_1366-11dup NP_001070833.1:n.1366-12_1366-11dup
NM_001077366.1:c.1204-12_1204-11dup NP_001070834.1:n.1204-12_1204-11dup
NM_001136113.1:c.1366-12_1366-11dup NP_001129585.1:n.1366-12_1366-11dup
NM_001136114.1:c.1015-12_1015-11dup NP_001129586.1:n.1015-12_1015-11dup
NM_007171.3:c.1432-12_1432-11dup NP_009102.3:n.1432-12_1432-11dup
XM_005272156.1:c.1432-12_1432-11dup XP_005272213.1:n.1432-12_1432-11dup
XM_005272158.1:c.1270-12_1270-11dup XP_005272215.1:n.1270-12_1270-11dup
XM_005272159.1:c.1081-12_1081-11dup XP_005272216.1:n.1081-12_1081-11dup
XM_005272162.1:c.235-12_235-11dup XP_005272219.1:n.235-12_235-11dup
XM_006716932.1:c.1081-12_1081-11dup XP_006716995.1:n.1081-12_1081-11dup
XM_011518140.1:c.1285-12_1285-11dup XP_011516442.1:n.1285-12_1285-11dup
XM_011518141.1:c.1219-12_1219-11dup XP_011516443.1:n.1219-12_1219-11dup
XM_011518142.1:c.1123-12_1123-11dup XP_011516444.1:n.1123-12_1123-11dup
XM_011518143.1:c.1117-12_1117-11dup XP_011516445.1:n.1117-12_1117-11dup
XM_011518144.1:c.*110_*111dup XP_011516446.1:n.*110_*111dup
XM_011518145.1:c.976-12_976-11dup XP_011516447.1:n.976-12_976-11dup
XM_011518146.1:c.*110_*111dup XP_011516448.1:n.*110_*111dup
XM_011518147.1:c.304-12_304-11dup XP_011516449.1:n.304-12_304-11dup
XR_929703.1:n.1608-12_1608-11dup
NM_001353193.1:c.1432-12_1432-11dup NP_001340122.1:n.1432-12_1432-11dup
NM_001353194.1:c.1204-12_1204-11dup NP_001340123.1:n.1204-12_1204-11dup
NM_001353195.1:c.1015-12_1015-11dup NP_001340124.1:n.1015-12_1015-11dup
NM_001353196.1:c.1276-12_1276-11dup NP_001340125.1:n.1276-12_1276-11dup
NM_001353197.1:c.1270-12_1270-11dup NP_001340126.1:n.1270-12_1270-11dup
NM_001353198.1:c.1270-12_1270-11dup NP_001340127.1:n.1270-12_1270-11dup
NM_001353199.1:c.1081-12_1081-11dup NP_001340128.1:n.1081-12_1081-11dup
NM_001353200.1:c.910-12_910-11dup NP_001340129.1:n.910-12_910-11dup
NR_148391.1:n.1416-12_1416-11dup
NR_148392.1:n.1634-12_1634-11dup
NR_148393.1:n.1543_1544dup
NR_148394.1:n.1309-12_1309-11dup
NR_148395.1:n.1695_1696dup
NR_148396.1:n.1329_1330dup
NR_148397.1:n.1466-12_1466-11dup
NR_148398.1:n.1421-12_1421-11dup
NR_148399.1:n.1935_1936dup
NR_148400.1:n.1534_1535dup
XM_005272162.3:c.235-12_235-11dup XP_005272219.1:n.235-12_235-11dup
XM_006716932.2:c.1081-12_1081-11dup XP_006716995.1:n.1081-12_1081-11dup
XM_011518140.2:c.1285-12_1285-11dup XP_011516442.1:n.1285-12_1285-11dup
XM_011518141.2:c.1219-12_1219-11dup XP_011516443.1:n.1219-12_1219-11dup
XM_011518142.2:c.1123-12_1123-11dup XP_011516444.1:n.1123-12_1123-11dup
XM_011518143.2:c.1117-12_1117-11dup XP_011516445.1:n.1117-12_1117-11dup
XM_011518145.2:c.976-12_976-11dup XP_011516447.1:n.976-12_976-11dup
XM_017014205.2:c.235-12_235-11dup XP_016869694.1:n.235-12_235-11dup
XM_024447380.1:c.235-12_235-11dup XP_024303148.1:n.235-12_235-11dup
XM_024447381.1:c.541-12_541-11dup XP_024303149.1:n.541-12_541-11dup
XM_024447382.1:c.235-12_235-11dup XP_024303150.1:n.235-12_235-11dup
XR_001746160.2:n.1536-12_1536-11dup
XR_001746162.2:n.1729_1730dup
XR_001746164.1:n.1446_1447dup
XR_001746166.2:n.1753-12_1753-11dup
NM_001077365.2:c.1366-12_1366-11dup MANE Select NP_001070833.1:n.1366-12_1366-11dup
NM_001077366.2:c.1204-12_1204-11dup NP_001070834.1:n.1204-12_1204-11dup
NM_001136113.2:c.1366-12_1366-11dup NP_001129585.1:n.1366-12_1366-11dup
NM_001136114.2:c.1015-12_1015-11dup NP_001129586.1:n.1015-12_1015-11dup
NM_001353193.2:c.1432-12_1432-11dup NP_001340122.2:n.1432-12_1432-11dup
NM_001353194.2:c.1204-12_1204-11dup NP_001340123.1:n.1204-12_1204-11dup
NM_001353195.2:c.1015-12_1015-11dup NP_001340124.1:n.1015-12_1015-11dup
NM_001353196.2:c.1276-12_1276-11dup NP_001340125.1:n.1276-12_1276-11dup
NM_001353197.2:c.1270-12_1270-11dup NP_001340126.2:n.1270-12_1270-11dup
NM_001353198.2:c.1270-12_1270-11dup NP_001340127.2:n.1270-12_1270-11dup
NM_001353199.2:c.1081-12_1081-11dup NP_001340128.2:n.1081-12_1081-11dup
NM_001353200.2:c.910-12_910-11dup NP_001340129.1:n.910-12_910-11dup
NM_001374689.1:c.1354-12_1354-11dup NP_001361618.1:n.1354-12_1354-11dup
NM_001374690.1:c.1365+288_1365+289dup NP_001361619.1:n.1365+288_1365+289dup
NM_001374691.1:c.1015-12_1015-11dup NP_001361620.1:n.1015-12_1015-11dup
NM_001374692.1:c.1015-12_1015-11dup NP_001361621.1:n.1015-12_1015-11dup
NM_001374693.1:c.1015-12_1015-11dup NP_001361622.1:n.1015-12_1015-11dup
NM_001374695.1:c.976-12_976-11dup NP_001361624.1:n.976-12_976-11dup
NM_007171.4:c.1432-12_1432-11dup NP_009102.4:n.1432-12_1432-11dup
NR_148391.2:n.1400-12_1400-11dup
NR_148392.2:n.1618-12_1618-11dup
NR_148393.2:n.1527_1528dup
NR_148394.2:n.1293-12_1293-11dup
NR_148395.2:n.1679_1680dup
NR_148396.2:n.1313_1314dup
NR_148397.2:n.1450-12_1450-11dup
NR_148398.2:n.1405-12_1405-11dup
NR_148399.2:n.1919_1920dup
NR_148400.2:n.1518_1519dup