Canonical Allele Identifier: CA375315261
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1943A>G ENSP00000343034.7:p.Lys648Arg
ENST00000404875.7:n.2645A>G
ENST00000423007.6:c.2162A>G ENSP00000404119.2:p.Lys721Arg
ENST00000677295.2:c.*2449A>G ENSP00000504346.2:n.*2449A>G
ENST00000678264.2:c.*2288A>G ENSP00000503157.2:n.*2288A>G
ENST00000682070.1:n.2415A>G
ENST00000682639.1:c.102A>G
ENST00000682813.1:n.2502A>G
ENST00000683231.1:c.102A>G
ENST00000683392.1:n.4697A>G
ENST00000683712.1:n.2510A>G
ENST00000683900.1:n.4005A>G
ENST00000684062.1:n.2771A>G
ENST00000684399.1:c.102A>G
ENST00000684579.1:n.3951A>G
ENST00000341012.12:c.1943A>G ENSP00000343034.7:p.Lys648Arg
ENST00000372220.5:c.974A>G ENSP00000361294.5:p.Lys325Arg
ENST00000372228.9:c.2171A>G ENSP00000361302.3:p.Lys724Arg
ENST00000402686.8:c.2105A>G MANE Select ENSP00000385797.4:p.Lys702Arg
ENST00000676640.1:c.2105A>G ENSP00000503281.1:p.Lys702Arg
ENST00000676803.1:c.1166A>G ENSP00000503093.1:p.Lys389Arg
ENST00000676835.1:c.*1320A>G ENSP00000502911.1:n.*1320A>G
ENST00000677029.1:c.1649A>G ENSP00000502936.1:p.Lys550Arg
ENST00000677099.1:c.*1815A>G ENSP00000504553.1:n.*1815A>G
ENST00000677216.1:c.1754A>G ENSP00000503772.1:p.Lys585Arg
ENST00000677295.1:c.*1327A>G ENSP00000504346.1:n.*1327A>G
ENST00000677444.1:c.2050A>G
ENST00000677586.1:n.1472A>G
ENST00000677626.1:c.1754A>G ENSP00000503552.1:p.Lys585Arg
ENST00000677853.1:c.*1113A>G ENSP00000503488.1:n.*1113A>G
ENST00000678264.1:c.*1482A>G ENSP00000503157.1:n.*1482A>G
ENST00000678303.1:c.2015A>G ENSP00000503696.1:p.Lys672Arg
ENST00000678366.1:c.*2354A>G ENSP00000504353.1:n.*2354A>G
ENST00000678546.1:c.*2050A>G ENSP00000503062.1:n.*2050A>G
ENST00000678548.1:c.*2244A>G ENSP00000503934.1:n.*2244A>G
ENST00000678626.1:n.1941A>G
ENST00000678739.1:c.*2271A>G ENSP00000503806.1:n.*2271A>G
ENST00000678833.1:c.*1857A>G ENSP00000503893.1:n.*1857A>G
ENST00000679023.1:c.1943A>G ENSP00000503718.1:p.Lys648Arg
ENST00000679076.1:c.1724A>G
ENST00000679111.1:c.*861A>G ENSP00000504257.1:n.*861A>G
ENST00000679189.1:c.1754A>G ENSP00000503356.1:p.Lys585Arg
ENST00000341012.11:c.1943A>G ENSP00000343034.7:p.Lys648Arg
ENST00000372220.4:c.968A>G ENSP00000361294.4:p.Lys323Arg
ENST00000372228.7:c.2171A>G ENSP00000361302.3:p.Lys724Arg
ENST00000402686.7:c.2105A>G ENSP00000385797.3:p.Lys702Arg
ENST00000404875.6:c.1754A>G ENSP00000384531.2:p.Lys585Arg
ENST00000423007.5:c.2105A>G ENSP00000404119.1:p.Lys702Arg
ENST00000485278.5:n.2655A>G
NM_001077365.1:c.2105A>G NP_001070833.1:p.Lys702Arg
NM_001077366.1:c.1943A>G NP_001070834.1:p.Lys648Arg
NM_001136113.1:c.2105A>G NP_001129585.1:p.Lys702Arg
NM_001136114.1:c.1754A>G NP_001129586.1:p.Lys585Arg
NM_007171.3:c.2171A>G NP_009102.3:p.Lys724Arg
XM_005272156.1:c.2171A>G XP_005272213.1:p.Lys724Arg
XM_005272158.1:c.2009A>G XP_005272215.1:p.Lys670Arg
XM_005272159.1:c.1820A>G XP_005272216.1:p.Lys607Arg
XM_005272162.1:c.974A>G XP_005272219.1:p.Lys325Arg
XM_006716932.1:c.1820A>G XP_006716995.1:p.Lys607Arg
XM_011518140.1:c.2024A>G XP_011516442.1:p.Lys675Arg
XM_011518141.1:c.1958A>G XP_011516443.1:p.Lys653Arg
XM_011518142.1:c.1862A>G XP_011516444.1:p.Lys621Arg
XM_011518143.1:c.1856A>G XP_011516445.1:p.Lys619Arg
XM_011518145.1:c.1715A>G XP_011516447.1:p.Lys572Arg
XM_011518147.1:c.1043A>G XP_011516449.1:p.Lys348Arg
XR_929703.1:n.2347A>G
NM_001353193.1:c.2171A>G NP_001340122.1:p.Lys724Arg
NM_001353194.1:c.1943A>G NP_001340123.1:p.Lys648Arg
NM_001353195.1:c.1754A>G NP_001340124.1:p.Lys585Arg
NM_001353196.1:c.2015A>G NP_001340125.1:p.Lys672Arg
NM_001353197.1:c.2009A>G NP_001340126.1:p.Lys670Arg
NM_001353198.1:c.2009A>G NP_001340127.1:p.Lys670Arg
NM_001353199.1:c.1820A>G NP_001340128.1:p.Lys607Arg
NM_001353200.1:c.1649A>G NP_001340129.1:p.Lys550Arg
NR_148391.1:n.2155A>G
NR_148392.1:n.2373A>G
NR_148393.1:n.2294A>G
NR_148394.1:n.2048A>G
NR_148395.1:n.2446A>G
NR_148396.1:n.2080A>G
NR_148397.1:n.2205A>G
NR_148398.1:n.2160A>G
NR_148399.1:n.2686A>G
NR_148400.1:n.2285A>G
XM_005272162.3:c.974A>G XP_005272219.1:p.Lys325Arg
XM_006716932.2:c.1820A>G XP_006716995.1:p.Lys607Arg
XM_011518140.2:c.2024A>G XP_011516442.1:p.Lys675Arg
XM_011518141.2:c.1958A>G XP_011516443.1:p.Lys653Arg
XM_011518142.2:c.1862A>G XP_011516444.1:p.Lys621Arg
XM_011518143.2:c.1856A>G XP_011516445.1:p.Lys619Arg
XM_011518145.2:c.1715A>G XP_011516447.1:p.Lys572Arg
XM_017014205.2:c.974A>G XP_016869694.1:p.Lys325Arg
XM_024447380.1:c.974A>G XP_024303148.1:p.Lys325Arg
XM_024447381.1:c.1280A>G XP_024303149.1:p.Lys427Arg
XM_024447382.1:c.974A>G XP_024303150.1:p.Lys325Arg
XR_001746160.2:n.2275A>G
XR_001746162.2:n.2480A>G
XR_001746164.1:n.2197A>G
XR_001746166.2:n.2492A>G
NM_001077365.2:c.2105A>G MANE Select NP_001070833.1:p.Lys702Arg
NM_001077366.2:c.1943A>G NP_001070834.1:p.Lys648Arg
NM_001136113.2:c.2105A>G NP_001129585.1:p.Lys702Arg
NM_001136114.2:c.1754A>G NP_001129586.1:p.Lys585Arg
NM_001353193.2:c.2171A>G NP_001340122.2:p.Lys724Arg
NM_001353194.2:c.1943A>G NP_001340123.1:p.Lys648Arg
NM_001353195.2:c.1754A>G NP_001340124.1:p.Lys585Arg
NM_001353196.2:c.2015A>G NP_001340125.1:p.Lys672Arg
NM_001353197.2:c.2009A>G NP_001340126.2:p.Lys670Arg
NM_001353198.2:c.2009A>G NP_001340127.2:p.Lys670Arg
NM_001353199.2:c.1820A>G NP_001340128.2:p.Lys607Arg
NM_001353200.2:c.1649A>G NP_001340129.1:p.Lys550Arg
NM_001374689.1:c.2093A>G NP_001361618.1:p.Lys698Arg
NM_001374690.1:c.1886A>G NP_001361619.1:p.Lys629Arg
NM_001374691.1:c.1754A>G NP_001361620.1:p.Lys585Arg
NM_001374692.1:c.1754A>G NP_001361621.1:p.Lys585Arg
NM_001374693.1:c.1754A>G NP_001361622.1:p.Lys585Arg
NM_001374695.1:c.1715A>G NP_001361624.1:p.Lys572Arg
NM_007171.4:c.2171A>G NP_009102.4:p.Lys724Arg
NR_148391.2:n.2139A>G
NR_148392.2:n.2357A>G
NR_148393.2:n.2278A>G
NR_148394.2:n.2032A>G
NR_148395.2:n.2430A>G
NR_148396.2:n.2064A>G
NR_148397.2:n.2189A>G
NR_148398.2:n.2144A>G
NR_148399.2:n.2670A>G
NR_148400.2:n.2269A>G