Canonical Allele Identifier: CA375315527
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523102A>G , CM000671.2:g.131523102A>G GRCh38
NC_000009.11:g.134398489A>G , CM000671.1:g.134398489A>G GRCh37
NC_000009.10:g.133388310A>G NCBI36
NG_008896.1:g.25201A>G
NG_008896.2:g.25201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.2012A>G ENSP00000343034.7:p.His671Arg
ENST00000404875.7:n.2714A>G
ENST00000423007.6:c.2231A>G ENSP00000404119.2:p.His744Arg
ENST00000677295.2:c.*2518A>G ENSP00000504346.2:n.*2518A>G
ENST00000678264.2:c.*2357A>G ENSP00000503157.2:n.*2357A>G
ENST00000682070.1:n.2484A>G
ENST00000682639.1:c.171A>G
ENST00000682813.1:n.2571A>G
ENST00000683231.1:c.171A>G
ENST00000683392.1:n.4766A>G
ENST00000683712.1:n.2579A>G
ENST00000683900.1:n.4074A>G
ENST00000684062.1:n.2840A>G
ENST00000684399.1:c.171A>G
ENST00000684579.1:n.4020A>G
ENST00000341012.12:c.2012A>G ENSP00000343034.7:p.His671Arg
ENST00000372220.5:c.1043A>G ENSP00000361294.5:p.His348Arg
ENST00000372228.9:c.2240A>G ENSP00000361302.3:p.His747Arg
ENST00000402686.8:c.2174A>G MANE Select ENSP00000385797.4:p.His725Arg
ENST00000676640.1:c.2174A>G ENSP00000503281.1:p.His725Arg
ENST00000676803.1:c.1235A>G ENSP00000503093.1:p.His412Arg
ENST00000676835.1:c.*1389A>G ENSP00000502911.1:n.*1389A>G
ENST00000677029.1:c.1718A>G ENSP00000502936.1:p.His573Arg
ENST00000677099.1:c.*1884A>G ENSP00000504553.1:n.*1884A>G
ENST00000677216.1:c.1823A>G ENSP00000503772.1:p.His608Arg
ENST00000677295.1:c.*1396A>G ENSP00000504346.1:n.*1396A>G
ENST00000677444.1:c.2119A>G
ENST00000677586.1:n.1541A>G
ENST00000677626.1:c.1823A>G ENSP00000503552.1:p.His608Arg
ENST00000677853.1:c.*1182A>G ENSP00000503488.1:n.*1182A>G
ENST00000678264.1:c.*1551A>G ENSP00000503157.1:n.*1551A>G
ENST00000678303.1:c.2084A>G ENSP00000503696.1:p.His695Arg
ENST00000678366.1:c.*2423A>G ENSP00000504353.1:n.*2423A>G
ENST00000678546.1:c.*2119A>G ENSP00000503062.1:n.*2119A>G
ENST00000678548.1:c.*2313A>G ENSP00000503934.1:n.*2313A>G
ENST00000678626.1:n.2010A>G
ENST00000678739.1:c.*2340A>G ENSP00000503806.1:n.*2340A>G
ENST00000678833.1:c.*1926A>G ENSP00000503893.1:n.*1926A>G
ENST00000679023.1:c.2012A>G ENSP00000503718.1:p.His671Arg
ENST00000679076.1:c.1793A>G
ENST00000679111.1:c.*930A>G ENSP00000504257.1:n.*930A>G
ENST00000679189.1:c.1823A>G ENSP00000503356.1:p.His608Arg
ENST00000341012.11:c.2012A>G ENSP00000343034.7:p.His671Arg
ENST00000372220.4:c.1037A>G ENSP00000361294.4:p.His346Arg
ENST00000372228.7:c.2240A>G ENSP00000361302.3:p.His747Arg
ENST00000402686.7:c.2174A>G ENSP00000385797.3:p.His725Arg
ENST00000404875.6:c.1823A>G ENSP00000384531.2:p.His608Arg
ENST00000423007.5:c.2174A>G ENSP00000404119.1:p.His725Arg
ENST00000485278.5:n.2724A>G
NM_001077365.1:c.2174A>G NP_001070833.1:p.His725Arg
NM_001077366.1:c.2012A>G NP_001070834.1:p.His671Arg
NM_001136113.1:c.2174A>G NP_001129585.1:p.His725Arg
NM_001136114.1:c.1823A>G NP_001129586.1:p.His608Arg
NM_007171.3:c.2240A>G NP_009102.3:p.His747Arg
XM_005272156.1:c.2240A>G XP_005272213.1:p.His747Arg
XM_005272158.1:c.2078A>G XP_005272215.1:p.His693Arg
XM_005272159.1:c.1889A>G XP_005272216.1:p.His630Arg
XM_005272162.1:c.1043A>G XP_005272219.1:p.His348Arg
XM_006716932.1:c.1889A>G XP_006716995.1:p.His630Arg
XM_011518140.1:c.2093A>G XP_011516442.1:p.His698Arg
XM_011518141.1:c.2027A>G XP_011516443.1:p.His676Arg
XM_011518142.1:c.1931A>G XP_011516444.1:p.His644Arg
XM_011518143.1:c.1925A>G XP_011516445.1:p.His642Arg
XM_011518145.1:c.1784A>G XP_011516447.1:p.His595Arg
XM_011518147.1:c.1112A>G XP_011516449.1:p.His371Arg
XR_929703.1:n.2416A>G
NM_001353193.1:c.2240A>G NP_001340122.1:p.His747Arg
NM_001353194.1:c.2012A>G NP_001340123.1:p.His671Arg
NM_001353195.1:c.1823A>G NP_001340124.1:p.His608Arg
NM_001353196.1:c.2084A>G NP_001340125.1:p.His695Arg
NM_001353197.1:c.2078A>G NP_001340126.1:p.His693Arg
NM_001353198.1:c.2078A>G NP_001340127.1:p.His693Arg
NM_001353199.1:c.1889A>G NP_001340128.1:p.His630Arg
NM_001353200.1:c.1718A>G NP_001340129.1:p.His573Arg
NR_148391.1:n.2224A>G
NR_148392.1:n.2442A>G
NR_148393.1:n.2363A>G
NR_148394.1:n.2117A>G
NR_148395.1:n.2515A>G
NR_148396.1:n.2149A>G
NR_148397.1:n.2274A>G
NR_148398.1:n.2229A>G
NR_148399.1:n.2755A>G
NR_148400.1:n.2354A>G
XM_005272162.3:c.1043A>G XP_005272219.1:p.His348Arg
XM_006716932.2:c.1889A>G XP_006716995.1:p.His630Arg
XM_011518140.2:c.2093A>G XP_011516442.1:p.His698Arg
XM_011518141.2:c.2027A>G XP_011516443.1:p.His676Arg
XM_011518142.2:c.1931A>G XP_011516444.1:p.His644Arg
XM_011518143.2:c.1925A>G XP_011516445.1:p.His642Arg
XM_011518145.2:c.1784A>G XP_011516447.1:p.His595Arg
XM_017014205.2:c.1043A>G XP_016869694.1:p.His348Arg
XM_024447380.1:c.1043A>G XP_024303148.1:p.His348Arg
XM_024447381.1:c.1349A>G XP_024303149.1:p.His450Arg
XM_024447382.1:c.1043A>G XP_024303150.1:p.His348Arg
XR_001746160.2:n.2344A>G
XR_001746162.2:n.2549A>G
XR_001746164.1:n.2266A>G
XR_001746166.2:n.2561A>G
NM_001077365.2:c.2174A>G MANE Select NP_001070833.1:p.His725Arg
NM_001077366.2:c.2012A>G NP_001070834.1:p.His671Arg
NM_001136113.2:c.2174A>G NP_001129585.1:p.His725Arg
NM_001136114.2:c.1823A>G NP_001129586.1:p.His608Arg
NM_001353193.2:c.2240A>G NP_001340122.2:p.His747Arg
NM_001353194.2:c.2012A>G NP_001340123.1:p.His671Arg
NM_001353195.2:c.1823A>G NP_001340124.1:p.His608Arg
NM_001353196.2:c.2084A>G NP_001340125.1:p.His695Arg
NM_001353197.2:c.2078A>G NP_001340126.2:p.His693Arg
NM_001353198.2:c.2078A>G NP_001340127.2:p.His693Arg
NM_001353199.2:c.1889A>G NP_001340128.2:p.His630Arg
NM_001353200.2:c.1718A>G NP_001340129.1:p.His573Arg
NM_001374689.1:c.2162A>G NP_001361618.1:p.His721Arg
NM_001374690.1:c.1955A>G NP_001361619.1:p.His652Arg
NM_001374691.1:c.1823A>G NP_001361620.1:p.His608Arg
NM_001374692.1:c.1823A>G NP_001361621.1:p.His608Arg
NM_001374693.1:c.1823A>G NP_001361622.1:p.His608Arg
NM_001374695.1:c.1784A>G NP_001361624.1:p.His595Arg
NM_007171.4:c.2240A>G NP_009102.4:p.His747Arg
NR_148391.2:n.2208A>G
NR_148392.2:n.2426A>G
NR_148393.2:n.2347A>G
NR_148394.2:n.2101A>G
NR_148395.2:n.2499A>G
NR_148396.2:n.2133A>G
NR_148397.2:n.2258A>G
NR_148398.2:n.2213A>G
NR_148399.2:n.2739A>G
NR_148400.2:n.2338A>G