Canonical Allele Identifier: CA375311185
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518466G>T , CM000671.2:g.131518466G>T GRCh38
NC_000009.11:g.134393853G>T , CM000671.1:g.134393853G>T GRCh37
NC_000009.10:g.133383674G>T NCBI36
NG_008896.1:g.20565G>T
NG_008896.2:g.20565G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1132G>T ENSP00000343034.7:p.Asp378Tyr
ENST00000404875.7:n.1834G>T
ENST00000423007.6:c.1351G>T ENSP00000404119.2:p.Asp451Tyr
ENST00000677295.2:c.*1638G>T ENSP00000504346.2:n.*1638G>T
ENST00000678264.2:c.*1477G>T ENSP00000503157.2:n.*1477G>T
ENST00000682070.1:n.1759G>T
ENST00000682535.1:n.66G>T
ENST00000682539.1:c.232G>T
ENST00000682813.1:n.1559G>T
ENST00000683110.1:n.22G>T
ENST00000683392.1:n.4041G>T
ENST00000683712.1:n.1699G>T
ENST00000683900.1:n.3194G>T
ENST00000684062.1:n.1960G>T
ENST00000684579.1:n.3140G>T
ENST00000684679.1:n.521G>T
ENST00000341012.12:c.1132G>T ENSP00000343034.7:p.Asp378Tyr
ENST00000372220.5:c.163G>T ENSP00000361294.5:p.Asp55Tyr
ENST00000372228.9:c.1360G>T ENSP00000361302.3:p.Asp454Tyr
ENST00000402686.8:c.1294G>T MANE Select ENSP00000385797.4:p.Asp432Tyr
ENST00000676640.1:c.1294G>T ENSP00000503281.1:p.Asp432Tyr
ENST00000676803.1:c.469G>T ENSP00000503093.1:p.Asp157Tyr
ENST00000676835.1:c.*509G>T ENSP00000502911.1:n.*509G>T
ENST00000677029.1:c.838G>T ENSP00000502936.1:p.Asp280Tyr
ENST00000677099.1:c.*1004G>T ENSP00000504553.1:n.*1004G>T
ENST00000677216.1:c.943G>T ENSP00000503772.1:p.Asp315Tyr
ENST00000677221.1:n.319G>T
ENST00000677295.1:c.*671G>T ENSP00000504346.1:n.*671G>T
ENST00000677444.1:c.1100G>T
ENST00000677586.1:n.775G>T
ENST00000677626.1:c.943G>T ENSP00000503552.1:p.Asp315Tyr
ENST00000677677.1:n.1254G>T
ENST00000677853.1:c.*302G>T ENSP00000503488.1:n.*302G>T
ENST00000677983.1:n.383G>T
ENST00000678202.1:n.314G>T
ENST00000678264.1:c.*671G>T ENSP00000503157.1:n.*671G>T
ENST00000678303.1:c.1204G>T ENSP00000503696.1:p.Asp402Tyr
ENST00000678366.1:c.*1543G>T ENSP00000504353.1:n.*1543G>T
ENST00000678546.1:c.*1239G>T ENSP00000503062.1:n.*1239G>T
ENST00000678548.1:c.*1366G>T ENSP00000503934.1:n.*1366G>T
ENST00000678626.1:n.991G>T
ENST00000678733.1:c.375G>T
ENST00000678739.1:c.*1620G>T ENSP00000503806.1:n.*1620G>T
ENST00000678795.1:n.381G>T
ENST00000678833.1:c.*741G>T ENSP00000503893.1:n.*741G>T
ENST00000678942.1:c.474G>T ENSP00000504690.1:n.474G>T
ENST00000679023.1:c.1132G>T ENSP00000503718.1:p.Asp378Tyr
ENST00000679076.1:c.913G>T
ENST00000679111.1:c.1294G>T ENSP00000504257.1:p.Asp432Tyr
ENST00000679189.1:c.943G>T ENSP00000503356.1:p.Asp315Tyr
ENST00000341012.11:c.1132G>T ENSP00000343034.7:p.Asp378Tyr
ENST00000372220.4:c.157G>T ENSP00000361294.4:p.Asp53Tyr
ENST00000372228.7:c.1360G>T ENSP00000361302.3:p.Asp454Tyr
ENST00000402686.7:c.1294G>T ENSP00000385797.3:p.Asp432Tyr
ENST00000404875.6:c.943G>T ENSP00000384531.2:p.Asp315Tyr
ENST00000423007.5:c.1294G>T ENSP00000404119.1:p.Asp432Tyr
ENST00000485278.5:n.1849G>T
NM_001077365.1:c.1294G>T NP_001070833.1:p.Asp432Tyr
NM_001077366.1:c.1132G>T NP_001070834.1:p.Asp378Tyr
NM_001136113.1:c.1294G>T NP_001129585.1:p.Asp432Tyr
NM_001136114.1:c.943G>T NP_001129586.1:p.Asp315Tyr
NM_007171.3:c.1360G>T NP_009102.3:p.Asp454Tyr
XM_005272156.1:c.1360G>T XP_005272213.1:p.Asp454Tyr
XM_005272158.1:c.1198G>T XP_005272215.1:p.Asp400Tyr
XM_005272159.1:c.1009G>T XP_005272216.1:p.Asp337Tyr
XM_005272162.1:c.163G>T XP_005272219.1:p.Asp55Tyr
XM_006716932.1:c.1009G>T XP_006716995.1:p.Asp337Tyr
XM_011518140.1:c.1213G>T XP_011516442.1:p.Asp405Tyr
XM_011518141.1:c.1147G>T XP_011516443.1:p.Asp383Tyr
XM_011518142.1:c.1051G>T XP_011516444.1:p.Asp351Tyr
XM_011518143.1:c.1045G>T XP_011516445.1:p.Asp349Tyr
XM_011518144.1:c.1360G>T XP_011516446.1:p.Asp454Tyr
XM_011518145.1:c.904G>T XP_011516447.1:p.Asp302Tyr
XM_011518146.1:c.1045G>T XP_011516448.1:p.Asp349Tyr
XM_011518147.1:c.232G>T XP_011516449.1:p.Asp78Tyr
XR_929703.1:n.1536G>T
NM_001353193.1:c.1360G>T NP_001340122.1:p.Asp454Tyr
NM_001353194.1:c.1132G>T NP_001340123.1:p.Asp378Tyr
NM_001353195.1:c.943G>T NP_001340124.1:p.Asp315Tyr
NM_001353196.1:c.1204G>T NP_001340125.1:p.Asp402Tyr
NM_001353197.1:c.1198G>T NP_001340126.1:p.Asp400Tyr
NM_001353198.1:c.1198G>T NP_001340127.1:p.Asp400Tyr
NM_001353199.1:c.1009G>T NP_001340128.1:p.Asp337Tyr
NM_001353200.1:c.838G>T NP_001340129.1:p.Asp280Tyr
NR_148391.1:n.1344G>T
NR_148392.1:n.1562G>T
NR_148393.1:n.1344G>T
NR_148394.1:n.1237G>T
NR_148395.1:n.1496G>T
NR_148396.1:n.1130G>T
NR_148397.1:n.1394G>T
NR_148398.1:n.1349G>T
NR_148399.1:n.1736G>T
NR_148400.1:n.1335G>T
XM_005272162.3:c.163G>T XP_005272219.1:p.Asp55Tyr
XM_006716932.2:c.1009G>T XP_006716995.1:p.Asp337Tyr
XM_011518140.2:c.1213G>T XP_011516442.1:p.Asp405Tyr
XM_011518141.2:c.1147G>T XP_011516443.1:p.Asp383Tyr
XM_011518142.2:c.1051G>T XP_011516444.1:p.Asp351Tyr
XM_011518143.2:c.1045G>T XP_011516445.1:p.Asp349Tyr
XM_011518145.2:c.904G>T XP_011516447.1:p.Asp302Tyr
XM_017014205.2:c.163G>T XP_016869694.1:p.Asp55Tyr
XM_024447380.1:c.163G>T XP_024303148.1:p.Asp55Tyr
XM_024447381.1:c.469G>T XP_024303149.1:p.Asp157Tyr
XM_024447382.1:c.163G>T XP_024303150.1:p.Asp55Tyr
XR_001746160.2:n.1464G>T
XR_001746162.2:n.1530G>T
XR_001746164.1:n.1247G>T
XR_001746166.2:n.1681G>T
NM_001077365.2:c.1294G>T MANE Select NP_001070833.1:p.Asp432Tyr
NM_001077366.2:c.1132G>T NP_001070834.1:p.Asp378Tyr
NM_001136113.2:c.1294G>T NP_001129585.1:p.Asp432Tyr
NM_001136114.2:c.943G>T NP_001129586.1:p.Asp315Tyr
NM_001353193.2:c.1360G>T NP_001340122.2:p.Asp454Tyr
NM_001353194.2:c.1132G>T NP_001340123.1:p.Asp378Tyr
NM_001353195.2:c.943G>T NP_001340124.1:p.Asp315Tyr
NM_001353196.2:c.1204G>T NP_001340125.1:p.Asp402Tyr
NM_001353197.2:c.1198G>T NP_001340126.2:p.Asp400Tyr
NM_001353198.2:c.1198G>T NP_001340127.2:p.Asp400Tyr
NM_001353199.2:c.1009G>T NP_001340128.2:p.Asp337Tyr
NM_001353200.2:c.838G>T NP_001340129.1:p.Asp280Tyr
NM_001374689.1:c.1282G>T NP_001361618.1:p.Asp428Tyr
NM_001374690.1:c.1294G>T NP_001361619.1:p.Asp432Tyr
NM_001374691.1:c.943G>T NP_001361620.1:p.Asp315Tyr
NM_001374692.1:c.943G>T NP_001361621.1:p.Asp315Tyr
NM_001374693.1:c.943G>T NP_001361622.1:p.Asp315Tyr
NM_001374695.1:c.904G>T NP_001361624.1:p.Asp302Tyr
NM_007171.4:c.1360G>T NP_009102.4:p.Asp454Tyr
NR_148391.2:n.1328G>T
NR_148392.2:n.1546G>T
NR_148393.2:n.1328G>T
NR_148394.2:n.1221G>T
NR_148395.2:n.1480G>T
NR_148396.2:n.1114G>T
NR_148397.2:n.1378G>T
NR_148398.2:n.1333G>T
NR_148399.2:n.1720G>T
NR_148400.2:n.1319G>T