Canonical Allele Identifier: CA375315262
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523033A>T , CM000671.2:g.131523033A>T GRCh38
NC_000009.11:g.134398420A>T , CM000671.1:g.134398420A>T GRCh37
NC_000009.10:g.133388241A>T NCBI36
NG_008896.1:g.25132A>T
NG_008896.2:g.25132A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1943A>T ENSP00000343034.7:p.Lys648Met
ENST00000404875.7:n.2645A>T
ENST00000423007.6:c.2162A>T ENSP00000404119.2:p.Lys721Met
ENST00000677295.2:c.*2449A>T ENSP00000504346.2:n.*2449A>T
ENST00000678264.2:c.*2288A>T ENSP00000503157.2:n.*2288A>T
ENST00000682070.1:n.2415A>T
ENST00000682639.1:c.102A>T
ENST00000682813.1:n.2502A>T
ENST00000683231.1:c.102A>T
ENST00000683392.1:n.4697A>T
ENST00000683712.1:n.2510A>T
ENST00000683900.1:n.4005A>T
ENST00000684062.1:n.2771A>T
ENST00000684399.1:c.102A>T
ENST00000684579.1:n.3951A>T
ENST00000341012.12:c.1943A>T ENSP00000343034.7:p.Lys648Met
ENST00000372220.5:c.974A>T ENSP00000361294.5:p.Lys325Met
ENST00000372228.9:c.2171A>T ENSP00000361302.3:p.Lys724Met
ENST00000402686.8:c.2105A>T MANE Select ENSP00000385797.4:p.Lys702Met
ENST00000676640.1:c.2105A>T ENSP00000503281.1:p.Lys702Met
ENST00000676803.1:c.1166A>T ENSP00000503093.1:p.Lys389Met
ENST00000676835.1:c.*1320A>T ENSP00000502911.1:n.*1320A>T
ENST00000677029.1:c.1649A>T ENSP00000502936.1:p.Lys550Met
ENST00000677099.1:c.*1815A>T ENSP00000504553.1:n.*1815A>T
ENST00000677216.1:c.1754A>T ENSP00000503772.1:p.Lys585Met
ENST00000677295.1:c.*1327A>T ENSP00000504346.1:n.*1327A>T
ENST00000677444.1:c.2050A>T
ENST00000677586.1:n.1472A>T
ENST00000677626.1:c.1754A>T ENSP00000503552.1:p.Lys585Met
ENST00000677853.1:c.*1113A>T ENSP00000503488.1:n.*1113A>T
ENST00000678264.1:c.*1482A>T ENSP00000503157.1:n.*1482A>T
ENST00000678303.1:c.2015A>T ENSP00000503696.1:p.Lys672Met
ENST00000678366.1:c.*2354A>T ENSP00000504353.1:n.*2354A>T
ENST00000678546.1:c.*2050A>T ENSP00000503062.1:n.*2050A>T
ENST00000678548.1:c.*2244A>T ENSP00000503934.1:n.*2244A>T
ENST00000678626.1:n.1941A>T
ENST00000678739.1:c.*2271A>T ENSP00000503806.1:n.*2271A>T
ENST00000678833.1:c.*1857A>T ENSP00000503893.1:n.*1857A>T
ENST00000679023.1:c.1943A>T ENSP00000503718.1:p.Lys648Met
ENST00000679076.1:c.1724A>T
ENST00000679111.1:c.*861A>T ENSP00000504257.1:n.*861A>T
ENST00000679189.1:c.1754A>T ENSP00000503356.1:p.Lys585Met
ENST00000341012.11:c.1943A>T ENSP00000343034.7:p.Lys648Met
ENST00000372220.4:c.968A>T ENSP00000361294.4:p.Lys323Met
ENST00000372228.7:c.2171A>T ENSP00000361302.3:p.Lys724Met
ENST00000402686.7:c.2105A>T ENSP00000385797.3:p.Lys702Met
ENST00000404875.6:c.1754A>T ENSP00000384531.2:p.Lys585Met
ENST00000423007.5:c.2105A>T ENSP00000404119.1:p.Lys702Met
ENST00000485278.5:n.2655A>T
NM_001077365.1:c.2105A>T NP_001070833.1:p.Lys702Met
NM_001077366.1:c.1943A>T NP_001070834.1:p.Lys648Met
NM_001136113.1:c.2105A>T NP_001129585.1:p.Lys702Met
NM_001136114.1:c.1754A>T NP_001129586.1:p.Lys585Met
NM_007171.3:c.2171A>T NP_009102.3:p.Lys724Met
XM_005272156.1:c.2171A>T XP_005272213.1:p.Lys724Met
XM_005272158.1:c.2009A>T XP_005272215.1:p.Lys670Met
XM_005272159.1:c.1820A>T XP_005272216.1:p.Lys607Met
XM_005272162.1:c.974A>T XP_005272219.1:p.Lys325Met
XM_006716932.1:c.1820A>T XP_006716995.1:p.Lys607Met
XM_011518140.1:c.2024A>T XP_011516442.1:p.Lys675Met
XM_011518141.1:c.1958A>T XP_011516443.1:p.Lys653Met
XM_011518142.1:c.1862A>T XP_011516444.1:p.Lys621Met
XM_011518143.1:c.1856A>T XP_011516445.1:p.Lys619Met
XM_011518145.1:c.1715A>T XP_011516447.1:p.Lys572Met
XM_011518147.1:c.1043A>T XP_011516449.1:p.Lys348Met
XR_929703.1:n.2347A>T
NM_001353193.1:c.2171A>T NP_001340122.1:p.Lys724Met
NM_001353194.1:c.1943A>T NP_001340123.1:p.Lys648Met
NM_001353195.1:c.1754A>T NP_001340124.1:p.Lys585Met
NM_001353196.1:c.2015A>T NP_001340125.1:p.Lys672Met
NM_001353197.1:c.2009A>T NP_001340126.1:p.Lys670Met
NM_001353198.1:c.2009A>T NP_001340127.1:p.Lys670Met
NM_001353199.1:c.1820A>T NP_001340128.1:p.Lys607Met
NM_001353200.1:c.1649A>T NP_001340129.1:p.Lys550Met
NR_148391.1:n.2155A>T
NR_148392.1:n.2373A>T
NR_148393.1:n.2294A>T
NR_148394.1:n.2048A>T
NR_148395.1:n.2446A>T
NR_148396.1:n.2080A>T
NR_148397.1:n.2205A>T
NR_148398.1:n.2160A>T
NR_148399.1:n.2686A>T
NR_148400.1:n.2285A>T
XM_005272162.3:c.974A>T XP_005272219.1:p.Lys325Met
XM_006716932.2:c.1820A>T XP_006716995.1:p.Lys607Met
XM_011518140.2:c.2024A>T XP_011516442.1:p.Lys675Met
XM_011518141.2:c.1958A>T XP_011516443.1:p.Lys653Met
XM_011518142.2:c.1862A>T XP_011516444.1:p.Lys621Met
XM_011518143.2:c.1856A>T XP_011516445.1:p.Lys619Met
XM_011518145.2:c.1715A>T XP_011516447.1:p.Lys572Met
XM_017014205.2:c.974A>T XP_016869694.1:p.Lys325Met
XM_024447380.1:c.974A>T XP_024303148.1:p.Lys325Met
XM_024447381.1:c.1280A>T XP_024303149.1:p.Lys427Met
XM_024447382.1:c.974A>T XP_024303150.1:p.Lys325Met
XR_001746160.2:n.2275A>T
XR_001746162.2:n.2480A>T
XR_001746164.1:n.2197A>T
XR_001746166.2:n.2492A>T
NM_001077365.2:c.2105A>T MANE Select NP_001070833.1:p.Lys702Met
NM_001077366.2:c.1943A>T NP_001070834.1:p.Lys648Met
NM_001136113.2:c.2105A>T NP_001129585.1:p.Lys702Met
NM_001136114.2:c.1754A>T NP_001129586.1:p.Lys585Met
NM_001353193.2:c.2171A>T NP_001340122.2:p.Lys724Met
NM_001353194.2:c.1943A>T NP_001340123.1:p.Lys648Met
NM_001353195.2:c.1754A>T NP_001340124.1:p.Lys585Met
NM_001353196.2:c.2015A>T NP_001340125.1:p.Lys672Met
NM_001353197.2:c.2009A>T NP_001340126.2:p.Lys670Met
NM_001353198.2:c.2009A>T NP_001340127.2:p.Lys670Met
NM_001353199.2:c.1820A>T NP_001340128.2:p.Lys607Met
NM_001353200.2:c.1649A>T NP_001340129.1:p.Lys550Met
NM_001374689.1:c.2093A>T NP_001361618.1:p.Lys698Met
NM_001374690.1:c.1886A>T NP_001361619.1:p.Lys629Met
NM_001374691.1:c.1754A>T NP_001361620.1:p.Lys585Met
NM_001374692.1:c.1754A>T NP_001361621.1:p.Lys585Met
NM_001374693.1:c.1754A>T NP_001361622.1:p.Lys585Met
NM_001374695.1:c.1715A>T NP_001361624.1:p.Lys572Met
NM_007171.4:c.2171A>T NP_009102.4:p.Lys724Met
NR_148391.2:n.2139A>T
NR_148392.2:n.2357A>T
NR_148393.2:n.2278A>T
NR_148394.2:n.2032A>T
NR_148395.2:n.2430A>T
NR_148396.2:n.2064A>T
NR_148397.2:n.2189A>T
NR_148398.2:n.2144A>T
NR_148399.2:n.2670A>T
NR_148400.2:n.2269A>T