Canonical Allele Identifier: CA2579545647
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518795G>T , CM000671.2:g.131518795G>T GRCh38
NC_000009.11:g.134394182G>T , CM000671.1:g.134394182G>T GRCh37
NC_000009.10:g.133384003G>T NCBI36
NG_008896.1:g.20894G>T
NG_008896.2:g.20894G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1204-42G>T ENSP00000343034.7:n.1204-42G>T
ENST00000404875.7:n.1906-42G>T
ENST00000423007.6:c.1423-42G>T ENSP00000404119.2:n.1423-42G>T
ENST00000677295.2:c.*1710-42G>T ENSP00000504346.2:n.*1710-42G>T
ENST00000678264.2:c.*1549-42G>T ENSP00000503157.2:n.*1549-42G>T
ENST00000682070.1:n.1831-42G>T
ENST00000682539.1:c.304-42G>T
ENST00000682813.1:n.1728G>T
ENST00000683392.1:n.4113-42G>T
ENST00000683712.1:n.1771-42G>T
ENST00000683900.1:n.3266-42G>T
ENST00000684062.1:n.2032-42G>T
ENST00000684579.1:n.3212-42G>T
ENST00000684679.1:n.593-42G>T
ENST00000341012.12:c.1204-42G>T ENSP00000343034.7:n.1204-42G>T
ENST00000372220.5:c.235-42G>T ENSP00000361294.5:n.235-42G>T
ENST00000372228.9:c.1432-42G>T ENSP00000361302.3:n.1432-42G>T
ENST00000402686.8:c.1366-42G>T MANE Select ENSP00000385797.4:n.1366-42G>T
ENST00000676640.1:c.1366-42G>T ENSP00000503281.1:n.1366-42G>T
ENST00000676803.1:c.541-42G>T ENSP00000503093.1:n.541-42G>T
ENST00000676835.1:c.*581-42G>T ENSP00000502911.1:n.*581-42G>T
ENST00000677029.1:c.910-42G>T ENSP00000502936.1:n.910-42G>T
ENST00000677099.1:c.*1076-42G>T ENSP00000504553.1:n.*1076-42G>T
ENST00000677216.1:c.1015-42G>T ENSP00000503772.1:n.1015-42G>T
ENST00000677221.1:n.391-42G>T
ENST00000677295.1:c.*743-42G>T ENSP00000504346.1:n.*743-42G>T
ENST00000677444.1:c.1269G>T
ENST00000677586.1:n.847-42G>T
ENST00000677626.1:c.1015-42G>T ENSP00000503552.1:n.1015-42G>T
ENST00000677677.1:n.1326-42G>T
ENST00000677853.1:c.*374-42G>T ENSP00000503488.1:n.*374-42G>T
ENST00000677983.1:n.552G>T
ENST00000678202.1:n.483G>T
ENST00000678264.1:c.*743-42G>T ENSP00000503157.1:n.*743-42G>T
ENST00000678303.1:c.1276-42G>T ENSP00000503696.1:n.1276-42G>T
ENST00000678366.1:c.*1615-42G>T ENSP00000504353.1:n.*1615-42G>T
ENST00000678546.1:c.*1311-42G>T ENSP00000503062.1:n.*1311-42G>T
ENST00000678548.1:c.*1438-42G>T ENSP00000503934.1:n.*1438-42G>T
ENST00000678626.1:n.1160G>T
ENST00000678733.1:c.447-42G>T
ENST00000678739.1:c.*1692-42G>T ENSP00000503806.1:n.*1692-42G>T
ENST00000678795.1:n.550G>T
ENST00000678833.1:c.*813-42G>T ENSP00000503893.1:n.*813-42G>T
ENST00000679023.1:c.1204-42G>T ENSP00000503718.1:n.1204-42G>T
ENST00000679076.1:c.985-42G>T
ENST00000679111.1:c.*80G>T ENSP00000504257.1:n.*80G>T
ENST00000679189.1:c.1015-42G>T ENSP00000503356.1:n.1015-42G>T
ENST00000341012.11:c.1204-42G>T ENSP00000343034.7:n.1204-42G>T
ENST00000372220.4:c.229-42G>T ENSP00000361294.4:n.229-42G>T
ENST00000372228.7:c.1432-42G>T ENSP00000361302.3:n.1432-42G>T
ENST00000402686.7:c.1366-42G>T ENSP00000385797.3:n.1366-42G>T
ENST00000404875.6:c.1015-42G>T ENSP00000384531.2:n.1015-42G>T
ENST00000423007.5:c.1366-42G>T ENSP00000404119.1:n.1366-42G>T
ENST00000467848.1:n.28G>T
ENST00000485278.5:n.1921-42G>T
NM_001077365.1:c.1366-42G>T NP_001070833.1:n.1366-42G>T
NM_001077366.1:c.1204-42G>T NP_001070834.1:n.1204-42G>T
NM_001136113.1:c.1366-42G>T NP_001129585.1:n.1366-42G>T
NM_001136114.1:c.1015-42G>T NP_001129586.1:n.1015-42G>T
NM_007171.3:c.1432-42G>T NP_009102.3:n.1432-42G>T
XM_005272156.1:c.1432-42G>T XP_005272213.1:n.1432-42G>T
XM_005272158.1:c.1270-42G>T XP_005272215.1:n.1270-42G>T
XM_005272159.1:c.1081-42G>T XP_005272216.1:n.1081-42G>T
XM_005272162.1:c.235-42G>T XP_005272219.1:n.235-42G>T
XM_006716932.1:c.1081-42G>T XP_006716995.1:n.1081-42G>T
XM_011518140.1:c.1285-42G>T XP_011516442.1:n.1285-42G>T
XM_011518141.1:c.1219-42G>T XP_011516443.1:n.1219-42G>T
XM_011518142.1:c.1123-42G>T XP_011516444.1:n.1123-42G>T
XM_011518143.1:c.1117-42G>T XP_011516445.1:n.1117-42G>T
XM_011518144.1:c.*80G>T XP_011516446.1:n.*80G>T
XM_011518145.1:c.976-42G>T XP_011516447.1:n.976-42G>T
XM_011518146.1:c.*80G>T XP_011516448.1:n.*80G>T
XM_011518147.1:c.304-42G>T XP_011516449.1:n.304-42G>T
XR_929703.1:n.1608-42G>T
NM_001353193.1:c.1432-42G>T NP_001340122.1:n.1432-42G>T
NM_001353194.1:c.1204-42G>T NP_001340123.1:n.1204-42G>T
NM_001353195.1:c.1015-42G>T NP_001340124.1:n.1015-42G>T
NM_001353196.1:c.1276-42G>T NP_001340125.1:n.1276-42G>T
NM_001353197.1:c.1270-42G>T NP_001340126.1:n.1270-42G>T
NM_001353198.1:c.1270-42G>T NP_001340127.1:n.1270-42G>T
NM_001353199.1:c.1081-42G>T NP_001340128.1:n.1081-42G>T
NM_001353200.1:c.910-42G>T NP_001340129.1:n.910-42G>T
NR_148391.1:n.1416-42G>T
NR_148392.1:n.1634-42G>T
NR_148393.1:n.1513G>T
NR_148394.1:n.1309-42G>T
NR_148395.1:n.1665G>T
NR_148396.1:n.1299G>T
NR_148397.1:n.1466-42G>T
NR_148398.1:n.1421-42G>T
NR_148399.1:n.1905G>T
NR_148400.1:n.1504G>T
XM_005272162.3:c.235-42G>T XP_005272219.1:n.235-42G>T
XM_006716932.2:c.1081-42G>T XP_006716995.1:n.1081-42G>T
XM_011518140.2:c.1285-42G>T XP_011516442.1:n.1285-42G>T
XM_011518141.2:c.1219-42G>T XP_011516443.1:n.1219-42G>T
XM_011518142.2:c.1123-42G>T XP_011516444.1:n.1123-42G>T
XM_011518143.2:c.1117-42G>T XP_011516445.1:n.1117-42G>T
XM_011518145.2:c.976-42G>T XP_011516447.1:n.976-42G>T
XM_017014205.2:c.235-42G>T XP_016869694.1:n.235-42G>T
XM_024447380.1:c.235-42G>T XP_024303148.1:n.235-42G>T
XM_024447381.1:c.541-42G>T XP_024303149.1:n.541-42G>T
XM_024447382.1:c.235-42G>T XP_024303150.1:n.235-42G>T
XR_001746160.2:n.1536-42G>T
XR_001746162.2:n.1699G>T
XR_001746164.1:n.1416G>T
XR_001746166.2:n.1753-42G>T
NM_001077365.2:c.1366-42G>T MANE Select NP_001070833.1:n.1366-42G>T
NM_001077366.2:c.1204-42G>T NP_001070834.1:n.1204-42G>T
NM_001136113.2:c.1366-42G>T NP_001129585.1:n.1366-42G>T
NM_001136114.2:c.1015-42G>T NP_001129586.1:n.1015-42G>T
NM_001353193.2:c.1432-42G>T NP_001340122.2:n.1432-42G>T
NM_001353194.2:c.1204-42G>T NP_001340123.1:n.1204-42G>T
NM_001353195.2:c.1015-42G>T NP_001340124.1:n.1015-42G>T
NM_001353196.2:c.1276-42G>T NP_001340125.1:n.1276-42G>T
NM_001353197.2:c.1270-42G>T NP_001340126.2:n.1270-42G>T
NM_001353198.2:c.1270-42G>T NP_001340127.2:n.1270-42G>T
NM_001353199.2:c.1081-42G>T NP_001340128.2:n.1081-42G>T
NM_001353200.2:c.910-42G>T NP_001340129.1:n.910-42G>T
NM_001374689.1:c.1354-42G>T NP_001361618.1:n.1354-42G>T
NM_001374690.1:c.1365+258G>T NP_001361619.1:n.1365+258G>T
NM_001374691.1:c.1015-42G>T NP_001361620.1:n.1015-42G>T
NM_001374692.1:c.1015-42G>T NP_001361621.1:n.1015-42G>T
NM_001374693.1:c.1015-42G>T NP_001361622.1:n.1015-42G>T
NM_001374695.1:c.976-42G>T NP_001361624.1:n.976-42G>T
NM_007171.4:c.1432-42G>T NP_009102.4:n.1432-42G>T
NR_148391.2:n.1400-42G>T
NR_148392.2:n.1618-42G>T
NR_148393.2:n.1497G>T
NR_148394.2:n.1293-42G>T
NR_148395.2:n.1649G>T
NR_148396.2:n.1283G>T
NR_148397.2:n.1450-42G>T
NR_148398.2:n.1405-42G>T
NR_148399.2:n.1889G>T
NR_148400.2:n.1488G>T