Canonical Allele Identifier: CA375315474
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523088C>G , CM000671.2:g.131523088C>G GRCh38
NC_000009.11:g.134398475C>G , CM000671.1:g.134398475C>G GRCh37
NC_000009.10:g.133388296C>G NCBI36
NG_008896.1:g.25187C>G
NG_008896.2:g.25187C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1998C>G ENSP00000343034.7:p.Ile666Met
ENST00000404875.7:n.2700C>G
ENST00000423007.6:c.2217C>G ENSP00000404119.2:p.Ile739Met
ENST00000677295.2:c.*2504C>G ENSP00000504346.2:n.*2504C>G
ENST00000678264.2:c.*2343C>G ENSP00000503157.2:n.*2343C>G
ENST00000682070.1:n.2470C>G
ENST00000682639.1:c.157C>G
ENST00000682813.1:n.2557C>G
ENST00000683231.1:c.157C>G
ENST00000683392.1:n.4752C>G
ENST00000683712.1:n.2565C>G
ENST00000683900.1:n.4060C>G
ENST00000684062.1:n.2826C>G
ENST00000684399.1:c.157C>G
ENST00000684579.1:n.4006C>G
ENST00000341012.12:c.1998C>G ENSP00000343034.7:p.Ile666Met
ENST00000372220.5:c.1029C>G ENSP00000361294.5:p.Ile343Met
ENST00000372228.9:c.2226C>G ENSP00000361302.3:p.Ile742Met
ENST00000402686.8:c.2160C>G MANE Select ENSP00000385797.4:p.Ile720Met
ENST00000676640.1:c.2160C>G ENSP00000503281.1:p.Ile720Met
ENST00000676803.1:c.1221C>G ENSP00000503093.1:p.Ile407Met
ENST00000676835.1:c.*1375C>G ENSP00000502911.1:n.*1375C>G
ENST00000677029.1:c.1704C>G ENSP00000502936.1:p.Ile568Met
ENST00000677099.1:c.*1870C>G ENSP00000504553.1:n.*1870C>G
ENST00000677216.1:c.1809C>G ENSP00000503772.1:p.Ile603Met
ENST00000677295.1:c.*1382C>G ENSP00000504346.1:n.*1382C>G
ENST00000677444.1:c.2105C>G
ENST00000677586.1:n.1527C>G
ENST00000677626.1:c.1809C>G ENSP00000503552.1:p.Ile603Met
ENST00000677853.1:c.*1168C>G ENSP00000503488.1:n.*1168C>G
ENST00000678264.1:c.*1537C>G ENSP00000503157.1:n.*1537C>G
ENST00000678303.1:c.2070C>G ENSP00000503696.1:p.Ile690Met
ENST00000678366.1:c.*2409C>G ENSP00000504353.1:n.*2409C>G
ENST00000678546.1:c.*2105C>G ENSP00000503062.1:n.*2105C>G
ENST00000678548.1:c.*2299C>G ENSP00000503934.1:n.*2299C>G
ENST00000678626.1:n.1996C>G
ENST00000678739.1:c.*2326C>G ENSP00000503806.1:n.*2326C>G
ENST00000678833.1:c.*1912C>G ENSP00000503893.1:n.*1912C>G
ENST00000679023.1:c.1998C>G ENSP00000503718.1:p.Ile666Met
ENST00000679076.1:c.1779C>G
ENST00000679111.1:c.*916C>G ENSP00000504257.1:n.*916C>G
ENST00000679189.1:c.1809C>G ENSP00000503356.1:p.Ile603Met
ENST00000341012.11:c.1998C>G ENSP00000343034.7:p.Ile666Met
ENST00000372220.4:c.1023C>G ENSP00000361294.4:p.Ile341Met
ENST00000372228.7:c.2226C>G ENSP00000361302.3:p.Ile742Met
ENST00000402686.7:c.2160C>G ENSP00000385797.3:p.Ile720Met
ENST00000404875.6:c.1809C>G ENSP00000384531.2:p.Ile603Met
ENST00000423007.5:c.2160C>G ENSP00000404119.1:p.Ile720Met
ENST00000485278.5:n.2710C>G
NM_001077365.1:c.2160C>G NP_001070833.1:p.Ile720Met
NM_001077366.1:c.1998C>G NP_001070834.1:p.Ile666Met
NM_001136113.1:c.2160C>G NP_001129585.1:p.Ile720Met
NM_001136114.1:c.1809C>G NP_001129586.1:p.Ile603Met
NM_007171.3:c.2226C>G NP_009102.3:p.Ile742Met
XM_005272156.1:c.2226C>G XP_005272213.1:p.Ile742Met
XM_005272158.1:c.2064C>G XP_005272215.1:p.Ile688Met
XM_005272159.1:c.1875C>G XP_005272216.1:p.Ile625Met
XM_005272162.1:c.1029C>G XP_005272219.1:p.Ile343Met
XM_006716932.1:c.1875C>G XP_006716995.1:p.Ile625Met
XM_011518140.1:c.2079C>G XP_011516442.1:p.Ile693Met
XM_011518141.1:c.2013C>G XP_011516443.1:p.Ile671Met
XM_011518142.1:c.1917C>G XP_011516444.1:p.Ile639Met
XM_011518143.1:c.1911C>G XP_011516445.1:p.Ile637Met
XM_011518145.1:c.1770C>G XP_011516447.1:p.Ile590Met
XM_011518147.1:c.1098C>G XP_011516449.1:p.Ile366Met
XR_929703.1:n.2402C>G
NM_001353193.1:c.2226C>G NP_001340122.1:p.Ile742Met
NM_001353194.1:c.1998C>G NP_001340123.1:p.Ile666Met
NM_001353195.1:c.1809C>G NP_001340124.1:p.Ile603Met
NM_001353196.1:c.2070C>G NP_001340125.1:p.Ile690Met
NM_001353197.1:c.2064C>G NP_001340126.1:p.Ile688Met
NM_001353198.1:c.2064C>G NP_001340127.1:p.Ile688Met
NM_001353199.1:c.1875C>G NP_001340128.1:p.Ile625Met
NM_001353200.1:c.1704C>G NP_001340129.1:p.Ile568Met
NR_148391.1:n.2210C>G
NR_148392.1:n.2428C>G
NR_148393.1:n.2349C>G
NR_148394.1:n.2103C>G
NR_148395.1:n.2501C>G
NR_148396.1:n.2135C>G
NR_148397.1:n.2260C>G
NR_148398.1:n.2215C>G
NR_148399.1:n.2741C>G
NR_148400.1:n.2340C>G
XM_005272162.3:c.1029C>G XP_005272219.1:p.Ile343Met
XM_006716932.2:c.1875C>G XP_006716995.1:p.Ile625Met
XM_011518140.2:c.2079C>G XP_011516442.1:p.Ile693Met
XM_011518141.2:c.2013C>G XP_011516443.1:p.Ile671Met
XM_011518142.2:c.1917C>G XP_011516444.1:p.Ile639Met
XM_011518143.2:c.1911C>G XP_011516445.1:p.Ile637Met
XM_011518145.2:c.1770C>G XP_011516447.1:p.Ile590Met
XM_017014205.2:c.1029C>G XP_016869694.1:p.Ile343Met
XM_024447380.1:c.1029C>G XP_024303148.1:p.Ile343Met
XM_024447381.1:c.1335C>G XP_024303149.1:p.Ile445Met
XM_024447382.1:c.1029C>G XP_024303150.1:p.Ile343Met
XR_001746160.2:n.2330C>G
XR_001746162.2:n.2535C>G
XR_001746164.1:n.2252C>G
XR_001746166.2:n.2547C>G
NM_001077365.2:c.2160C>G MANE Select NP_001070833.1:p.Ile720Met
NM_001077366.2:c.1998C>G NP_001070834.1:p.Ile666Met
NM_001136113.2:c.2160C>G NP_001129585.1:p.Ile720Met
NM_001136114.2:c.1809C>G NP_001129586.1:p.Ile603Met
NM_001353193.2:c.2226C>G NP_001340122.2:p.Ile742Met
NM_001353194.2:c.1998C>G NP_001340123.1:p.Ile666Met
NM_001353195.2:c.1809C>G NP_001340124.1:p.Ile603Met
NM_001353196.2:c.2070C>G NP_001340125.1:p.Ile690Met
NM_001353197.2:c.2064C>G NP_001340126.2:p.Ile688Met
NM_001353198.2:c.2064C>G NP_001340127.2:p.Ile688Met
NM_001353199.2:c.1875C>G NP_001340128.2:p.Ile625Met
NM_001353200.2:c.1704C>G NP_001340129.1:p.Ile568Met
NM_001374689.1:c.2148C>G NP_001361618.1:p.Ile716Met
NM_001374690.1:c.1941C>G NP_001361619.1:p.Ile647Met
NM_001374691.1:c.1809C>G NP_001361620.1:p.Ile603Met
NM_001374692.1:c.1809C>G NP_001361621.1:p.Ile603Met
NM_001374693.1:c.1809C>G NP_001361622.1:p.Ile603Met
NM_001374695.1:c.1770C>G NP_001361624.1:p.Ile590Met
NM_007171.4:c.2226C>G NP_009102.4:p.Ile742Met
NR_148391.2:n.2194C>G
NR_148392.2:n.2412C>G
NR_148393.2:n.2333C>G
NR_148394.2:n.2087C>G
NR_148395.2:n.2485C>G
NR_148396.2:n.2119C>G
NR_148397.2:n.2244C>G
NR_148398.2:n.2199C>G
NR_148399.2:n.2725C>G
NR_148400.2:n.2324C>G