Canonical Allele Identifier: CA2692219270
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521496_131521497dup , CM000671.2:g.131521496_131521497dup GRCh38
NC_000009.11:g.134396883_134396884dup , CM000671.1:g.134396883_134396884dup GRCh37
NC_000009.10:g.133386704_133386705dup NCBI36
NG_008896.1:g.23595_23596dup
NG_008896.2:g.23595_23596dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1663+24_1663+25dup ENSP00000343034.7:n.1663+24_1663+25dup
ENST00000404875.7:n.2365+24_2365+25dup
ENST00000423007.6:c.1882+24_1882+25dup ENSP00000404119.2:n.1882+24_1882+25dup
ENST00000677295.2:c.*2169+24_*2169+25dup ENSP00000504346.2:n.*2169+24_*2169+25dup
ENST00000678264.2:c.*2008+24_*2008+25dup ENSP00000503157.2:n.*2008+24_*2008+25dup
ENST00000682070.1:n.2290+24_2290+25dup
ENST00000682813.1:n.2229+24_2229+25dup
ENST00000683392.1:n.4572+24_4572+25dup
ENST00000683712.1:n.2230+24_2230+25dup
ENST00000683900.1:n.3725+24_3725+25dup
ENST00000684062.1:n.2491+24_2491+25dup
ENST00000684579.1:n.3671+24_3671+25dup
ENST00000684679.1:n.1052+24_1052+25dup
ENST00000341012.12:c.1663+24_1663+25dup ENSP00000343034.7:n.1663+24_1663+25dup
ENST00000372220.5:c.694+24_694+25dup ENSP00000361294.5:n.694+24_694+25dup
ENST00000372228.9:c.1891+24_1891+25dup ENSP00000361302.3:n.1891+24_1891+25dup
ENST00000402686.8:c.1825+24_1825+25dup MANE Select ENSP00000385797.4:n.1825+24_1825+25dup
ENST00000676640.1:c.1825+24_1825+25dup ENSP00000503281.1:n.1825+24_1825+25dup
ENST00000676803.1:c.886+24_886+25dup ENSP00000503093.1:n.886+24_886+25dup
ENST00000676835.1:c.*1040+24_*1040+25dup ENSP00000502911.1:n.*1040+24_*1040+25dup
ENST00000677029.1:c.1369+24_1369+25dup ENSP00000502936.1:n.1369+24_1369+25dup
ENST00000677099.1:c.*1535+24_*1535+25dup ENSP00000504553.1:n.*1535+24_*1535+25dup
ENST00000677216.1:c.1474+24_1474+25dup ENSP00000503772.1:n.1474+24_1474+25dup
ENST00000677221.1:n.850+24_850+25dup
ENST00000677295.1:c.*1202+24_*1202+25dup ENSP00000504346.1:n.*1202+24_*1202+25dup
ENST00000677444.1:c.1770+24_1770+25dup
ENST00000677586.1:n.1192+24_1192+25dup
ENST00000677626.1:c.1474+24_1474+25dup ENSP00000503552.1:n.1474+24_1474+25dup
ENST00000677853.1:c.*833+24_*833+25dup ENSP00000503488.1:n.*833+24_*833+25dup
ENST00000678202.1:n.984+24_984+25dup
ENST00000678264.1:c.*1202+24_*1202+25dup ENSP00000503157.1:n.*1202+24_*1202+25dup
ENST00000678303.1:c.1735+24_1735+25dup ENSP00000503696.1:n.1735+24_1735+25dup
ENST00000678366.1:c.*2074+24_*2074+25dup ENSP00000504353.1:n.*2074+24_*2074+25dup
ENST00000678546.1:c.*1770+24_*1770+25dup ENSP00000503062.1:n.*1770+24_*1770+25dup
ENST00000678548.1:c.*1897+24_*1897+25dup ENSP00000503934.1:n.*1897+24_*1897+25dup
ENST00000678626.1:n.1661+24_1661+25dup
ENST00000678739.1:c.*2146+24_*2146+25dup ENSP00000503806.1:n.*2146+24_*2146+25dup
ENST00000678833.1:c.*1577+24_*1577+25dup ENSP00000503893.1:n.*1577+24_*1577+25dup
ENST00000679023.1:c.1663+24_1663+25dup ENSP00000503718.1:n.1663+24_1663+25dup
ENST00000679076.1:c.1444+24_1444+25dup
ENST00000679111.1:c.*581+24_*581+25dup ENSP00000504257.1:n.*581+24_*581+25dup
ENST00000679189.1:c.1474+24_1474+25dup ENSP00000503356.1:n.1474+24_1474+25dup
ENST00000341012.11:c.1663+24_1663+25dup ENSP00000343034.7:n.1663+24_1663+25dup
ENST00000372220.4:c.688+24_688+25dup ENSP00000361294.4:n.688+24_688+25dup
ENST00000372228.7:c.1891+24_1891+25dup ENSP00000361302.3:n.1891+24_1891+25dup
ENST00000402686.7:c.1825+24_1825+25dup ENSP00000385797.3:n.1825+24_1825+25dup
ENST00000404875.6:c.1474+24_1474+25dup ENSP00000384531.2:n.1474+24_1474+25dup
ENST00000423007.5:c.1825+24_1825+25dup ENSP00000404119.1:n.1825+24_1825+25dup
ENST00000485278.5:n.2375+24_2375+25dup
ENST00000494883.1:n.368+24_368+25dup
NM_001077365.1:c.1825+24_1825+25dup NP_001070833.1:n.1825+24_1825+25dup
NM_001077366.1:c.1663+24_1663+25dup NP_001070834.1:n.1663+24_1663+25dup
NM_001136113.1:c.1825+24_1825+25dup NP_001129585.1:n.1825+24_1825+25dup
NM_001136114.1:c.1474+24_1474+25dup NP_001129586.1:n.1474+24_1474+25dup
NM_007171.3:c.1891+24_1891+25dup NP_009102.3:n.1891+24_1891+25dup
XM_005272156.1:c.1891+24_1891+25dup XP_005272213.1:n.1891+24_1891+25dup
XM_005272158.1:c.1729+24_1729+25dup XP_005272215.1:n.1729+24_1729+25dup
XM_005272159.1:c.1540+24_1540+25dup XP_005272216.1:n.1540+24_1540+25dup
XM_005272162.1:c.694+24_694+25dup XP_005272219.1:n.694+24_694+25dup
XM_006716932.1:c.1540+24_1540+25dup XP_006716995.1:n.1540+24_1540+25dup
XM_011518140.1:c.1744+24_1744+25dup XP_011516442.1:n.1744+24_1744+25dup
XM_011518141.1:c.1678+24_1678+25dup XP_011516443.1:n.1678+24_1678+25dup
XM_011518142.1:c.1582+24_1582+25dup XP_011516444.1:n.1582+24_1582+25dup
XM_011518143.1:c.1576+24_1576+25dup XP_011516445.1:n.1576+24_1576+25dup
XM_011518145.1:c.1435+24_1435+25dup XP_011516447.1:n.1435+24_1435+25dup
XM_011518147.1:c.763+24_763+25dup XP_011516449.1:n.763+24_763+25dup
XR_929703.1:n.2067+24_2067+25dup
NM_001353193.1:c.1891+24_1891+25dup NP_001340122.1:n.1891+24_1891+25dup
NM_001353194.1:c.1663+24_1663+25dup NP_001340123.1:n.1663+24_1663+25dup
NM_001353195.1:c.1474+24_1474+25dup NP_001340124.1:n.1474+24_1474+25dup
NM_001353196.1:c.1735+24_1735+25dup NP_001340125.1:n.1735+24_1735+25dup
NM_001353197.1:c.1729+24_1729+25dup NP_001340126.1:n.1729+24_1729+25dup
NM_001353198.1:c.1729+24_1729+25dup NP_001340127.1:n.1729+24_1729+25dup
NM_001353199.1:c.1540+24_1540+25dup NP_001340128.1:n.1540+24_1540+25dup
NM_001353200.1:c.1369+24_1369+25dup NP_001340129.1:n.1369+24_1369+25dup
NR_148391.1:n.1875+24_1875+25dup
NR_148392.1:n.2093+24_2093+25dup
NR_148393.1:n.2014+24_2014+25dup
NR_148394.1:n.1768+24_1768+25dup
NR_148395.1:n.2166+24_2166+25dup
NR_148396.1:n.1800+24_1800+25dup
NR_148397.1:n.1925+24_1925+25dup
NR_148398.1:n.1880+24_1880+25dup
NR_148399.1:n.2406+24_2406+25dup
NR_148400.1:n.2005+24_2005+25dup
XM_005272162.3:c.694+24_694+25dup XP_005272219.1:n.694+24_694+25dup
XM_006716932.2:c.1540+24_1540+25dup XP_006716995.1:n.1540+24_1540+25dup
XM_011518140.2:c.1744+24_1744+25dup XP_011516442.1:n.1744+24_1744+25dup
XM_011518141.2:c.1678+24_1678+25dup XP_011516443.1:n.1678+24_1678+25dup
XM_011518142.2:c.1582+24_1582+25dup XP_011516444.1:n.1582+24_1582+25dup
XM_011518143.2:c.1576+24_1576+25dup XP_011516445.1:n.1576+24_1576+25dup
XM_011518145.2:c.1435+24_1435+25dup XP_011516447.1:n.1435+24_1435+25dup
XM_017014205.2:c.694+24_694+25dup XP_016869694.1:n.694+24_694+25dup
XM_024447380.1:c.694+24_694+25dup XP_024303148.1:n.694+24_694+25dup
XM_024447381.1:c.1000+24_1000+25dup XP_024303149.1:n.1000+24_1000+25dup
XM_024447382.1:c.694+24_694+25dup XP_024303150.1:n.694+24_694+25dup
XR_001746160.2:n.1995+24_1995+25dup
XR_001746162.2:n.2200+24_2200+25dup
XR_001746164.1:n.1917+24_1917+25dup
XR_001746166.2:n.2212+24_2212+25dup
NM_001077365.2:c.1825+24_1825+25dup MANE Select NP_001070833.1:n.1825+24_1825+25dup
NM_001077366.2:c.1663+24_1663+25dup NP_001070834.1:n.1663+24_1663+25dup
NM_001136113.2:c.1825+24_1825+25dup NP_001129585.1:n.1825+24_1825+25dup
NM_001136114.2:c.1474+24_1474+25dup NP_001129586.1:n.1474+24_1474+25dup
NM_001353193.2:c.1891+24_1891+25dup NP_001340122.2:n.1891+24_1891+25dup
NM_001353194.2:c.1663+24_1663+25dup NP_001340123.1:n.1663+24_1663+25dup
NM_001353195.2:c.1474+24_1474+25dup NP_001340124.1:n.1474+24_1474+25dup
NM_001353196.2:c.1735+24_1735+25dup NP_001340125.1:n.1735+24_1735+25dup
NM_001353197.2:c.1729+24_1729+25dup NP_001340126.2:n.1729+24_1729+25dup
NM_001353198.2:c.1729+24_1729+25dup NP_001340127.2:n.1729+24_1729+25dup
NM_001353199.2:c.1540+24_1540+25dup NP_001340128.2:n.1540+24_1540+25dup
NM_001353200.2:c.1369+24_1369+25dup NP_001340129.1:n.1369+24_1369+25dup
NM_001374689.1:c.1813+24_1813+25dup NP_001361618.1:n.1813+24_1813+25dup
NM_001374690.1:c.1606+24_1606+25dup NP_001361619.1:n.1606+24_1606+25dup
NM_001374691.1:c.1474+24_1474+25dup NP_001361620.1:n.1474+24_1474+25dup
NM_001374692.1:c.1474+24_1474+25dup NP_001361621.1:n.1474+24_1474+25dup
NM_001374693.1:c.1474+24_1474+25dup NP_001361622.1:n.1474+24_1474+25dup
NM_001374695.1:c.1435+24_1435+25dup NP_001361624.1:n.1435+24_1435+25dup
NM_007171.4:c.1891+24_1891+25dup NP_009102.4:n.1891+24_1891+25dup
NR_148391.2:n.1859+24_1859+25dup
NR_148392.2:n.2077+24_2077+25dup
NR_148393.2:n.1998+24_1998+25dup
NR_148394.2:n.1752+24_1752+25dup
NR_148395.2:n.2150+24_2150+25dup
NR_148396.2:n.1784+24_1784+25dup
NR_148397.2:n.1909+24_1909+25dup
NR_148398.2:n.1864+24_1864+25dup
NR_148399.2:n.2390+24_2390+25dup
NR_148400.2:n.1989+24_1989+25dup