Canonical Allele Identifier: CA375311585
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518536A>T , CM000671.2:g.131518536A>T GRCh38
NC_000009.11:g.134393923A>T , CM000671.1:g.134393923A>T GRCh37
NC_000009.10:g.133383744A>T NCBI36
NG_008896.1:g.20635A>T
NG_008896.2:g.20635A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1202A>T ENSP00000343034.7:p.Lys401Met
ENST00000404875.7:n.1904A>T
ENST00000423007.6:c.1421A>T ENSP00000404119.2:p.Lys474Met
ENST00000677295.2:c.*1708A>T ENSP00000504346.2:n.*1708A>T
ENST00000678264.2:c.*1547A>T ENSP00000503157.2:n.*1547A>T
ENST00000682070.1:n.1829A>T
ENST00000682535.1:n.136A>T
ENST00000682539.1:c.302A>T
ENST00000682813.1:n.1629A>T
ENST00000683110.1:n.92A>T
ENST00000683392.1:n.4111A>T
ENST00000683712.1:n.1769A>T
ENST00000683900.1:n.3264A>T
ENST00000684062.1:n.2030A>T
ENST00000684579.1:n.3210A>T
ENST00000684679.1:n.591A>T
ENST00000341012.12:c.1202A>T ENSP00000343034.7:p.Lys401Met
ENST00000372220.5:c.233A>T ENSP00000361294.5:p.Lys78Met
ENST00000372228.9:c.1430A>T ENSP00000361302.3:p.Lys477Met
ENST00000402686.8:c.1364A>T MANE Select ENSP00000385797.4:p.Lys455Met
ENST00000676640.1:c.1364A>T ENSP00000503281.1:p.Lys455Met
ENST00000676803.1:c.539A>T ENSP00000503093.1:p.Lys180Met
ENST00000676835.1:c.*579A>T ENSP00000502911.1:n.*579A>T
ENST00000677029.1:c.908A>T ENSP00000502936.1:p.Lys303Met
ENST00000677099.1:c.*1074A>T ENSP00000504553.1:n.*1074A>T
ENST00000677216.1:c.1013A>T ENSP00000503772.1:p.Lys338Met
ENST00000677221.1:n.389A>T
ENST00000677295.1:c.*741A>T ENSP00000504346.1:n.*741A>T
ENST00000677444.1:c.1170A>T
ENST00000677586.1:n.845A>T
ENST00000677626.1:c.1013A>T ENSP00000503552.1:p.Lys338Met
ENST00000677677.1:n.1324A>T
ENST00000677853.1:c.*372A>T ENSP00000503488.1:n.*372A>T
ENST00000677983.1:n.453A>T
ENST00000678202.1:n.384A>T
ENST00000678264.1:c.*741A>T ENSP00000503157.1:n.*741A>T
ENST00000678303.1:c.1274A>T ENSP00000503696.1:p.Lys425Met
ENST00000678366.1:c.*1613A>T ENSP00000504353.1:n.*1613A>T
ENST00000678546.1:c.*1309A>T ENSP00000503062.1:n.*1309A>T
ENST00000678548.1:c.*1436A>T ENSP00000503934.1:n.*1436A>T
ENST00000678626.1:n.1061A>T
ENST00000678733.1:c.445A>T
ENST00000678739.1:c.*1690A>T ENSP00000503806.1:n.*1690A>T
ENST00000678795.1:n.451A>T
ENST00000678833.1:c.*811A>T ENSP00000503893.1:n.*811A>T
ENST00000678942.1:c.544A>T ENSP00000504690.1:n.544A>T
ENST00000679023.1:c.1202A>T ENSP00000503718.1:p.Lys401Met
ENST00000679076.1:c.983A>T
ENST00000679111.1:c.1364A>T ENSP00000504257.1:p.Lys455Met
ENST00000679189.1:c.1013A>T ENSP00000503356.1:p.Lys338Met
ENST00000341012.11:c.1202A>T ENSP00000343034.7:p.Lys401Met
ENST00000372220.4:c.227A>T ENSP00000361294.4:p.Lys76Met
ENST00000372228.7:c.1430A>T ENSP00000361302.3:p.Lys477Met
ENST00000402686.7:c.1364A>T ENSP00000385797.3:p.Lys455Met
ENST00000404875.6:c.1013A>T ENSP00000384531.2:p.Lys338Met
ENST00000423007.5:c.1364A>T ENSP00000404119.1:p.Lys455Met
ENST00000485278.5:n.1919A>T
NM_001077365.1:c.1364A>T NP_001070833.1:p.Lys455Met
NM_001077366.1:c.1202A>T NP_001070834.1:p.Lys401Met
NM_001136113.1:c.1364A>T NP_001129585.1:p.Lys455Met
NM_001136114.1:c.1013A>T NP_001129586.1:p.Lys338Met
NM_007171.3:c.1430A>T NP_009102.3:p.Lys477Met
XM_005272156.1:c.1430A>T XP_005272213.1:p.Lys477Met
XM_005272158.1:c.1268A>T XP_005272215.1:p.Lys423Met
XM_005272159.1:c.1079A>T XP_005272216.1:p.Lys360Met
XM_005272162.1:c.233A>T XP_005272219.1:p.Lys78Met
XM_006716932.1:c.1079A>T XP_006716995.1:p.Lys360Met
XM_011518140.1:c.1283A>T XP_011516442.1:p.Lys428Met
XM_011518141.1:c.1217A>T XP_011516443.1:p.Lys406Met
XM_011518142.1:c.1121A>T XP_011516444.1:p.Lys374Met
XM_011518143.1:c.1115A>T XP_011516445.1:p.Lys372Met
XM_011518144.1:c.1430A>T XP_011516446.1:p.Lys477Met
XM_011518145.1:c.974A>T XP_011516447.1:p.Lys325Met
XM_011518146.1:c.1115A>T XP_011516448.1:p.Lys372Met
XM_011518147.1:c.302A>T XP_011516449.1:p.Lys101Met
XR_929703.1:n.1606A>T
NM_001353193.1:c.1430A>T NP_001340122.1:p.Lys477Met
NM_001353194.1:c.1202A>T NP_001340123.1:p.Lys401Met
NM_001353195.1:c.1013A>T NP_001340124.1:p.Lys338Met
NM_001353196.1:c.1274A>T NP_001340125.1:p.Lys425Met
NM_001353197.1:c.1268A>T NP_001340126.1:p.Lys423Met
NM_001353198.1:c.1268A>T NP_001340127.1:p.Lys423Met
NM_001353199.1:c.1079A>T NP_001340128.1:p.Lys360Met
NM_001353200.1:c.908A>T NP_001340129.1:p.Lys303Met
NR_148391.1:n.1414A>T
NR_148392.1:n.1632A>T
NR_148393.1:n.1414A>T
NR_148394.1:n.1307A>T
NR_148395.1:n.1566A>T
NR_148396.1:n.1200A>T
NR_148397.1:n.1464A>T
NR_148398.1:n.1419A>T
NR_148399.1:n.1806A>T
NR_148400.1:n.1405A>T
XM_005272162.3:c.233A>T XP_005272219.1:p.Lys78Met
XM_006716932.2:c.1079A>T XP_006716995.1:p.Lys360Met
XM_011518140.2:c.1283A>T XP_011516442.1:p.Lys428Met
XM_011518141.2:c.1217A>T XP_011516443.1:p.Lys406Met
XM_011518142.2:c.1121A>T XP_011516444.1:p.Lys374Met
XM_011518143.2:c.1115A>T XP_011516445.1:p.Lys372Met
XM_011518145.2:c.974A>T XP_011516447.1:p.Lys325Met
XM_017014205.2:c.233A>T XP_016869694.1:p.Lys78Met
XM_024447380.1:c.233A>T XP_024303148.1:p.Lys78Met
XM_024447381.1:c.539A>T XP_024303149.1:p.Lys180Met
XM_024447382.1:c.233A>T XP_024303150.1:p.Lys78Met
XR_001746160.2:n.1534A>T
XR_001746162.2:n.1600A>T
XR_001746164.1:n.1317A>T
XR_001746166.2:n.1751A>T
NM_001077365.2:c.1364A>T MANE Select NP_001070833.1:p.Lys455Met
NM_001077366.2:c.1202A>T NP_001070834.1:p.Lys401Met
NM_001136113.2:c.1364A>T NP_001129585.1:p.Lys455Met
NM_001136114.2:c.1013A>T NP_001129586.1:p.Lys338Met
NM_001353193.2:c.1430A>T NP_001340122.2:p.Lys477Met
NM_001353194.2:c.1202A>T NP_001340123.1:p.Lys401Met
NM_001353195.2:c.1013A>T NP_001340124.1:p.Lys338Met
NM_001353196.2:c.1274A>T NP_001340125.1:p.Lys425Met
NM_001353197.2:c.1268A>T NP_001340126.2:p.Lys423Met
NM_001353198.2:c.1268A>T NP_001340127.2:p.Lys423Met
NM_001353199.2:c.1079A>T NP_001340128.2:p.Lys360Met
NM_001353200.2:c.908A>T NP_001340129.1:p.Lys303Met
NM_001374689.1:c.1352A>T NP_001361618.1:p.Lys451Met
NM_001374690.1:c.1364A>T NP_001361619.1:p.Lys455Met
NM_001374691.1:c.1013A>T NP_001361620.1:p.Lys338Met
NM_001374692.1:c.1013A>T NP_001361621.1:p.Lys338Met
NM_001374693.1:c.1013A>T NP_001361622.1:p.Lys338Met
NM_001374695.1:c.974A>T NP_001361624.1:p.Lys325Met
NM_007171.4:c.1430A>T NP_009102.4:p.Lys477Met
NR_148391.2:n.1398A>T
NR_148392.2:n.1616A>T
NR_148393.2:n.1398A>T
NR_148394.2:n.1291A>T
NR_148395.2:n.1550A>T
NR_148396.2:n.1184A>T
NR_148397.2:n.1448A>T
NR_148398.2:n.1403A>T
NR_148399.2:n.1790A>T
NR_148400.2:n.1389A>T