Canonical Allele Identifier: CA375314465
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522142C>G , CM000671.2:g.131522142C>G GRCh38
NC_000009.11:g.134397529C>G , CM000671.1:g.134397529C>G GRCh37
NC_000009.10:g.133387350C>G NCBI36
NG_008896.1:g.24241C>G
NG_008896.2:g.24241C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1759C>G ENSP00000343034.7:p.Leu587Val
ENST00000404875.7:n.2461C>G
ENST00000423007.6:c.1978C>G ENSP00000404119.2:p.Leu660Val
ENST00000677295.2:c.*2265C>G ENSP00000504346.2:n.*2265C>G
ENST00000678264.2:c.*2104C>G ENSP00000503157.2:n.*2104C>G
ENST00000682070.1:n.2291-60C>G
ENST00000682813.1:n.2325C>G
ENST00000683392.1:n.4573-60C>G
ENST00000683712.1:n.2326C>G
ENST00000683900.1:n.3821C>G
ENST00000684062.1:n.2587C>G
ENST00000684579.1:n.3767C>G
ENST00000684679.1:n.1148C>G
ENST00000341012.12:c.1759C>G ENSP00000343034.7:p.Leu587Val
ENST00000372220.5:c.790C>G ENSP00000361294.5:p.Leu264Val
ENST00000372228.9:c.1987C>G ENSP00000361302.3:p.Leu663Val
ENST00000402686.8:c.1921C>G MANE Select ENSP00000385797.4:p.Leu641Val
ENST00000676640.1:c.1921C>G ENSP00000503281.1:p.Leu641Val
ENST00000676803.1:c.982C>G ENSP00000503093.1:p.Leu328Val
ENST00000676835.1:c.*1136C>G ENSP00000502911.1:n.*1136C>G
ENST00000677029.1:c.1465C>G ENSP00000502936.1:p.Leu489Val
ENST00000677099.1:c.*1631C>G ENSP00000504553.1:n.*1631C>G
ENST00000677216.1:c.1570C>G ENSP00000503772.1:p.Leu524Val
ENST00000677221.1:n.946C>G
ENST00000677295.1:c.*1203-60C>G ENSP00000504346.1:n.*1203-60C>G
ENST00000677444.1:c.1866C>G
ENST00000677586.1:n.1288C>G
ENST00000677626.1:c.1570C>G ENSP00000503552.1:p.Leu524Val
ENST00000677853.1:c.*929C>G ENSP00000503488.1:n.*929C>G
ENST00000678202.1:n.1080C>G
ENST00000678264.1:c.*1298C>G ENSP00000503157.1:n.*1298C>G
ENST00000678303.1:c.1831C>G ENSP00000503696.1:p.Leu611Val
ENST00000678366.1:c.*2170C>G ENSP00000504353.1:n.*2170C>G
ENST00000678546.1:c.*1866C>G ENSP00000503062.1:n.*1866C>G
ENST00000678548.1:c.*2060C>G ENSP00000503934.1:n.*2060C>G
ENST00000678626.1:n.1757C>G
ENST00000678739.1:c.*2147-60C>G ENSP00000503806.1:n.*2147-60C>G
ENST00000678833.1:c.*1673C>G ENSP00000503893.1:n.*1673C>G
ENST00000679023.1:c.1759C>G ENSP00000503718.1:p.Leu587Val
ENST00000679076.1:c.1540C>G
ENST00000679111.1:c.*677C>G ENSP00000504257.1:n.*677C>G
ENST00000679189.1:c.1570C>G ENSP00000503356.1:p.Leu524Val
ENST00000341012.11:c.1759C>G ENSP00000343034.7:p.Leu587Val
ENST00000372220.4:c.784C>G ENSP00000361294.4:p.Leu262Val
ENST00000372228.7:c.1987C>G ENSP00000361302.3:p.Leu663Val
ENST00000402686.7:c.1921C>G ENSP00000385797.3:p.Leu641Val
ENST00000404875.6:c.1570C>G ENSP00000384531.2:p.Leu524Val
ENST00000423007.5:c.1921C>G ENSP00000404119.1:p.Leu641Val
ENST00000485278.5:n.2471C>G
ENST00000494883.1:n.464C>G
NM_001077365.1:c.1921C>G NP_001070833.1:p.Leu641Val
NM_001077366.1:c.1759C>G NP_001070834.1:p.Leu587Val
NM_001136113.1:c.1921C>G NP_001129585.1:p.Leu641Val
NM_001136114.1:c.1570C>G NP_001129586.1:p.Leu524Val
NM_007171.3:c.1987C>G NP_009102.3:p.Leu663Val
XM_005272156.1:c.1987C>G XP_005272213.1:p.Leu663Val
XM_005272158.1:c.1825C>G XP_005272215.1:p.Leu609Val
XM_005272159.1:c.1636C>G XP_005272216.1:p.Leu546Val
XM_005272162.1:c.790C>G XP_005272219.1:p.Leu264Val
XM_006716932.1:c.1636C>G XP_006716995.1:p.Leu546Val
XM_011518140.1:c.1840C>G XP_011516442.1:p.Leu614Val
XM_011518141.1:c.1774C>G XP_011516443.1:p.Leu592Val
XM_011518142.1:c.1678C>G XP_011516444.1:p.Leu560Val
XM_011518143.1:c.1672C>G XP_011516445.1:p.Leu558Val
XM_011518145.1:c.1531C>G XP_011516447.1:p.Leu511Val
XM_011518147.1:c.859C>G XP_011516449.1:p.Leu287Val
XR_929703.1:n.2163C>G
NM_001353193.1:c.1987C>G NP_001340122.1:p.Leu663Val
NM_001353194.1:c.1759C>G NP_001340123.1:p.Leu587Val
NM_001353195.1:c.1570C>G NP_001340124.1:p.Leu524Val
NM_001353196.1:c.1831C>G NP_001340125.1:p.Leu611Val
NM_001353197.1:c.1825C>G NP_001340126.1:p.Leu609Val
NM_001353198.1:c.1825C>G NP_001340127.1:p.Leu609Val
NM_001353199.1:c.1636C>G NP_001340128.1:p.Leu546Val
NM_001353200.1:c.1465C>G NP_001340129.1:p.Leu489Val
NR_148391.1:n.1971C>G
NR_148392.1:n.2189C>G
NR_148393.1:n.2110C>G
NR_148394.1:n.1864C>G
NR_148395.1:n.2262C>G
NR_148396.1:n.1896C>G
NR_148397.1:n.2021C>G
NR_148398.1:n.1976C>G
NR_148399.1:n.2502C>G
NR_148400.1:n.2101C>G
XM_005272162.3:c.790C>G XP_005272219.1:p.Leu264Val
XM_006716932.2:c.1636C>G XP_006716995.1:p.Leu546Val
XM_011518140.2:c.1840C>G XP_011516442.1:p.Leu614Val
XM_011518141.2:c.1774C>G XP_011516443.1:p.Leu592Val
XM_011518142.2:c.1678C>G XP_011516444.1:p.Leu560Val
XM_011518143.2:c.1672C>G XP_011516445.1:p.Leu558Val
XM_011518145.2:c.1531C>G XP_011516447.1:p.Leu511Val
XM_017014205.2:c.790C>G XP_016869694.1:p.Leu264Val
XM_024447380.1:c.790C>G XP_024303148.1:p.Leu264Val
XM_024447381.1:c.1096C>G XP_024303149.1:p.Leu366Val
XM_024447382.1:c.790C>G XP_024303150.1:p.Leu264Val
XR_001746160.2:n.2091C>G
XR_001746162.2:n.2296C>G
XR_001746164.1:n.2013C>G
XR_001746166.2:n.2308C>G
NM_001077365.2:c.1921C>G MANE Select NP_001070833.1:p.Leu641Val
NM_001077366.2:c.1759C>G NP_001070834.1:p.Leu587Val
NM_001136113.2:c.1921C>G NP_001129585.1:p.Leu641Val
NM_001136114.2:c.1570C>G NP_001129586.1:p.Leu524Val
NM_001353193.2:c.1987C>G NP_001340122.2:p.Leu663Val
NM_001353194.2:c.1759C>G NP_001340123.1:p.Leu587Val
NM_001353195.2:c.1570C>G NP_001340124.1:p.Leu524Val
NM_001353196.2:c.1831C>G NP_001340125.1:p.Leu611Val
NM_001353197.2:c.1825C>G NP_001340126.2:p.Leu609Val
NM_001353198.2:c.1825C>G NP_001340127.2:p.Leu609Val
NM_001353199.2:c.1636C>G NP_001340128.2:p.Leu546Val
NM_001353200.2:c.1465C>G NP_001340129.1:p.Leu489Val
NM_001374689.1:c.1909C>G NP_001361618.1:p.Leu637Val
NM_001374690.1:c.1702C>G NP_001361619.1:p.Leu568Val
NM_001374691.1:c.1570C>G NP_001361620.1:p.Leu524Val
NM_001374692.1:c.1570C>G NP_001361621.1:p.Leu524Val
NM_001374693.1:c.1570C>G NP_001361622.1:p.Leu524Val
NM_001374695.1:c.1531C>G NP_001361624.1:p.Leu511Val
NM_007171.4:c.1987C>G NP_009102.4:p.Leu663Val
NR_148391.2:n.1955C>G
NR_148392.2:n.2173C>G
NR_148393.2:n.2094C>G
NR_148394.2:n.1848C>G
NR_148395.2:n.2246C>G
NR_148396.2:n.1880C>G
NR_148397.2:n.2005C>G
NR_148398.2:n.1960C>G
NR_148399.2:n.2486C>G
NR_148400.2:n.2085C>G