Canonical Allele Identifier: CA5293828
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs771777458

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521445_131521446insTGACAGTCATAGATTCATCCTGTTTGTTGA , CM000671.2:g.131521445_131521446insTGACAGTCATAGATTCATCCTGTTTGTTGA GRCh38
NC_000009.11:g.134396832_134396833insTGACAGTCATAGATTCATCCTGTTTGTTGA , CM000671.1:g.134396832_134396833insTGACAGTCATAGATTCATCCTGTTTGTTGA GRCh37
NC_000009.10:g.133386653_133386654insTGACAGTCATAGATTCATCCTGTTTGTTGA NCBI36
NG_008896.1:g.23544_23545insTGACAGTCATAGATTCATCCTGTTTGTTGA
NG_008896.2:g.23544_23545insTGACAGTCATAGATTCATCCTGTTTGTTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000343034.7:p.Arg545_Arg546insLeuThrValIleAspSerSerCysL...
ENST00000404875.7:n.2338_2339insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000423007.6:c.1855_1856insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000404119.2:p.Arg618_Arg619insLeuThrValIleAspSerSerCysL...
ENST00000677295.2:c.*2142_*2143insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000504346.2:n.*2142_*2143insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000678264.2:c.*1981_*1982insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503157.2:n.*1981_*1982insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000682070.1:n.2263_2264insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000682813.1:n.2202_2203insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000683392.1:n.4545_4546insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000683712.1:n.2203_2204insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000683900.1:n.3698_3699insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000684062.1:n.2464_2465insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000684579.1:n.3644_3645insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000684679.1:n.1025_1026insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000341012.12:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000343034.7:p.Arg545_Arg546insLeuThrValIleAspSerSerCysL...
ENST00000372220.5:c.667_668insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000361294.5:p.Arg222_Arg223insLeuThrValIleAspSerSerCysL...
ENST00000372228.9:c.1864_1865insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000361302.3:p.Arg621_Arg622insLeuThrValIleAspSerSerCysL...
ENST00000402686.8:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA MANE Select ENSP00000385797.4:p.Arg599_Arg600insLeuThrValIleAspSerSerCysL...
ENST00000676640.1:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503281.1:p.Arg599_Arg600insLeuThrValIleAspSerSerCysL...
ENST00000676803.1:c.859_860insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503093.1:p.Arg286_Arg287insLeuThrValIleAspSerSerCysL...
ENST00000676835.1:c.*1013_*1014insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000502911.1:n.*1013_*1014insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000677029.1:c.1342_1343insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000502936.1:p.Arg447_Arg448insLeuThrValIleAspSerSerCysL...
ENST00000677099.1:c.*1508_*1509insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000504553.1:n.*1508_*1509insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000677216.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503772.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysL...
ENST00000677221.1:n.823_824insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000677295.1:c.*1175_*1176insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000504346.1:n.*1175_*1176insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000677444.1:c.1743_1744insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000677586.1:n.1165_1166insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000677626.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503552.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysL...
ENST00000677853.1:c.*806_*807insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503488.1:n.*806_*807insTGACAGTCATAGATTCATCCTGTTTGTTG...
ENST00000678202.1:n.957_958insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000678264.1:c.*1175_*1176insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503157.1:n.*1175_*1176insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000678303.1:c.1708_1709insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503696.1:p.Arg569_Arg570insLeuThrValIleAspSerSerCysL...
ENST00000678366.1:c.*2047_*2048insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000504353.1:n.*2047_*2048insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000678546.1:c.*1743_*1744insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503062.1:n.*1743_*1744insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000678548.1:c.*1870_*1871insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503934.1:n.*1870_*1871insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000678626.1:n.1634_1635insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000678739.1:c.*2119_*2120insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503806.1:n.*2119_*2120insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000678833.1:c.*1550_*1551insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503893.1:n.*1550_*1551insTGACAGTCATAGATTCATCCTGTTTGT...
ENST00000679023.1:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503718.1:p.Arg545_Arg546insLeuThrValIleAspSerSerCysL...
ENST00000679076.1:c.1417_1418insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000679111.1:c.*554_*555insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000504257.1:n.*554_*555insTGACAGTCATAGATTCATCCTGTTTGTTG...
ENST00000679189.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000503356.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysL...
ENST00000341012.11:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000343034.7:p.Arg545_Arg546insLeuThrValIleAspSerSerCysL...
ENST00000372220.4:c.661_662insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000361294.4:p.Arg220_Arg221insLeuThrValIleAspSerSerCysL...
ENST00000372228.7:c.1864_1865insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000361302.3:p.Arg621_Arg622insLeuThrValIleAspSerSerCysL...
ENST00000402686.7:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000385797.3:p.Arg599_Arg600insLeuThrValIleAspSerSerCysL...
ENST00000404875.6:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000384531.2:p.Arg482_Arg483insLeuThrValIleAspSerSerCysL...
ENST00000423007.5:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA ENSP00000404119.1:p.Arg599_Arg600insLeuThrValIleAspSerSerCysL...
ENST00000485278.5:n.2348_2349insTGACAGTCATAGATTCATCCTGTTTGTTGA
ENST00000494883.1:n.341_342insTGACAGTCATAGATTCATCCTGTTTGTTGA
NM_001077365.1:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001070833.1:p.Arg599_Arg600insLeuThrValIleAspSerSerCysLeuL...
NM_001077366.1:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001070834.1:p.Arg545_Arg546insLeuThrValIleAspSerSerCysLeuL...
NM_001136113.1:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001129585.1:p.Arg599_Arg600insLeuThrValIleAspSerSerCysLeuL...
NM_001136114.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001129586.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysLeuL...
NM_007171.3:c.1864_1865insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_009102.3:p.Arg621_Arg622insLeuThrValIleAspSerSerCysLeuLeu
XM_005272156.1:c.1864_1865insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_005272213.1:p.Arg621_Arg622insLeuThrValIleAspSerSerCysLeuL...
XM_005272158.1:c.1702_1703insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_005272215.1:p.Arg567_Arg568insLeuThrValIleAspSerSerCysLeuL...
XM_005272159.1:c.1513_1514insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_005272216.1:p.Arg504_Arg505insLeuThrValIleAspSerSerCysLeuL...
XM_005272162.1:c.667_668insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_005272219.1:p.Arg222_Arg223insLeuThrValIleAspSerSerCysLeuL...
XM_006716932.1:c.1513_1514insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_006716995.1:p.Arg504_Arg505insLeuThrValIleAspSerSerCysLeuL...
XM_011518140.1:c.1717_1718insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516442.1:p.Arg572_Arg573insLeuThrValIleAspSerSerCysLeuL...
XM_011518141.1:c.1651_1652insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516443.1:p.Arg550_Arg551insLeuThrValIleAspSerSerCysLeuL...
XM_011518142.1:c.1555_1556insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516444.1:p.Arg518_Arg519insLeuThrValIleAspSerSerCysLeuL...
XM_011518143.1:c.1549_1550insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516445.1:p.Arg516_Arg517insLeuThrValIleAspSerSerCysLeuL...
XM_011518145.1:c.1408_1409insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516447.1:p.Arg469_Arg470insLeuThrValIleAspSerSerCysLeuL...
XM_011518147.1:c.736_737insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516449.1:p.Arg245_Arg246insLeuThrValIleAspSerSerCysLeuL...
XR_929703.1:n.2040_2041insTGACAGTCATAGATTCATCCTGTTTGTTGA
NM_001353193.1:c.1864_1865insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340122.1:p.Arg621_Arg622insLeuThrValIleAspSerSerCysLeuL...
NM_001353194.1:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340123.1:p.Arg545_Arg546insLeuThrValIleAspSerSerCysLeuL...
NM_001353195.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340124.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysLeuL...
NM_001353196.1:c.1708_1709insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340125.1:p.Arg569_Arg570insLeuThrValIleAspSerSerCysLeuL...
NM_001353197.1:c.1702_1703insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340126.1:p.Arg567_Arg568insLeuThrValIleAspSerSerCysLeuL...
NM_001353198.1:c.1702_1703insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340127.1:p.Arg567_Arg568insLeuThrValIleAspSerSerCysLeuL...
NM_001353199.1:c.1513_1514insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340128.1:p.Arg504_Arg505insLeuThrValIleAspSerSerCysLeuL...
NM_001353200.1:c.1342_1343insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340129.1:p.Arg447_Arg448insLeuThrValIleAspSerSerCysLeuL...
NR_148391.1:n.1848_1849insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148392.1:n.2066_2067insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148393.1:n.1987_1988insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148394.1:n.1741_1742insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148395.1:n.2139_2140insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148396.1:n.1773_1774insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148397.1:n.1898_1899insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148398.1:n.1853_1854insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148399.1:n.2379_2380insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148400.1:n.1978_1979insTGACAGTCATAGATTCATCCTGTTTGTTGA
XM_005272162.3:c.667_668insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_005272219.1:p.Arg222_Arg223insLeuThrValIleAspSerSerCysLeuL...
XM_006716932.2:c.1513_1514insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_006716995.1:p.Arg504_Arg505insLeuThrValIleAspSerSerCysLeuL...
XM_011518140.2:c.1717_1718insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516442.1:p.Arg572_Arg573insLeuThrValIleAspSerSerCysLeuL...
XM_011518141.2:c.1651_1652insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516443.1:p.Arg550_Arg551insLeuThrValIleAspSerSerCysLeuL...
XM_011518142.2:c.1555_1556insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516444.1:p.Arg518_Arg519insLeuThrValIleAspSerSerCysLeuL...
XM_011518143.2:c.1549_1550insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516445.1:p.Arg516_Arg517insLeuThrValIleAspSerSerCysLeuL...
XM_011518145.2:c.1408_1409insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_011516447.1:p.Arg469_Arg470insLeuThrValIleAspSerSerCysLeuL...
XM_017014205.2:c.667_668insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_016869694.1:p.Arg222_Arg223insLeuThrValIleAspSerSerCysLeuL...
XM_024447380.1:c.667_668insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_024303148.1:p.Arg222_Arg223insLeuThrValIleAspSerSerCysLeuL...
XM_024447381.1:c.973_974insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_024303149.1:p.Arg324_Arg325insLeuThrValIleAspSerSerCysLeuL...
XM_024447382.1:c.667_668insTGACAGTCATAGATTCATCCTGTTTGTTGA XP_024303150.1:p.Arg222_Arg223insLeuThrValIleAspSerSerCysLeuL...
XR_001746160.2:n.1968_1969insTGACAGTCATAGATTCATCCTGTTTGTTGA
XR_001746162.2:n.2173_2174insTGACAGTCATAGATTCATCCTGTTTGTTGA
XR_001746164.1:n.1890_1891insTGACAGTCATAGATTCATCCTGTTTGTTGA
XR_001746166.2:n.2185_2186insTGACAGTCATAGATTCATCCTGTTTGTTGA
NM_001077365.2:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA MANE Select NP_001070833.1:p.Arg599_Arg600insLeuThrValIleAspSerSerCysLeuL...
NM_001077366.2:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001070834.1:p.Arg545_Arg546insLeuThrValIleAspSerSerCysLeuL...
NM_001136113.2:c.1798_1799insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001129585.1:p.Arg599_Arg600insLeuThrValIleAspSerSerCysLeuL...
NM_001136114.2:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001129586.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysLeuL...
NM_001353193.2:c.1864_1865insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340122.2:p.Arg621_Arg622insLeuThrValIleAspSerSerCysLeuL...
NM_001353194.2:c.1636_1637insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340123.1:p.Arg545_Arg546insLeuThrValIleAspSerSerCysLeuL...
NM_001353195.2:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340124.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysLeuL...
NM_001353196.2:c.1708_1709insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340125.1:p.Arg569_Arg570insLeuThrValIleAspSerSerCysLeuL...
NM_001353197.2:c.1702_1703insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340126.2:p.Arg567_Arg568insLeuThrValIleAspSerSerCysLeuL...
NM_001353198.2:c.1702_1703insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340127.2:p.Arg567_Arg568insLeuThrValIleAspSerSerCysLeuL...
NM_001353199.2:c.1513_1514insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340128.2:p.Arg504_Arg505insLeuThrValIleAspSerSerCysLeuL...
NM_001353200.2:c.1342_1343insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001340129.1:p.Arg447_Arg448insLeuThrValIleAspSerSerCysLeuL...
NM_001374689.1:c.1786_1787insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001361618.1:p.Arg595_Arg596insLeuThrValIleAspSerSerCysLeuL...
NM_001374690.1:c.1579_1580insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001361619.1:p.Arg526_Arg527insLeuThrValIleAspSerSerCysLeuL...
NM_001374691.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001361620.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysLeuL...
NM_001374692.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001361621.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysLeuL...
NM_001374693.1:c.1447_1448insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001361622.1:p.Arg482_Arg483insLeuThrValIleAspSerSerCysLeuL...
NM_001374695.1:c.1408_1409insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_001361624.1:p.Arg469_Arg470insLeuThrValIleAspSerSerCysLeuL...
NM_007171.4:c.1864_1865insTGACAGTCATAGATTCATCCTGTTTGTTGA NP_009102.4:p.Arg621_Arg622insLeuThrValIleAspSerSerCysLeuLeu
NR_148391.2:n.1832_1833insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148392.2:n.2050_2051insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148393.2:n.1971_1972insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148394.2:n.1725_1726insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148395.2:n.2123_2124insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148396.2:n.1757_1758insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148397.2:n.1882_1883insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148398.2:n.1837_1838insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148399.2:n.2363_2364insTGACAGTCATAGATTCATCCTGTTTGTTGA
NR_148400.2:n.1962_1963insTGACAGTCATAGATTCATCCTGTTTGTTGA