Canonical Allele Identifier: CA5293565
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs751607860
ExAC: 9:134388766 T / A
gnomAD v2: 9-134388766-T-A
gnomAD v3: 9-131513379-T-A
gnomAD v4: 9-131513379-T-A
MyVariant Identifiers: chr9:g.134388766T>A (hg19) chr9:g.131513379T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131513379T>A , CM000671.2:g.131513379T>A GRCh38
NC_000009.11:g.134388766T>A , CM000671.1:g.134388766T>A GRCh37
NC_000009.10:g.133378587T>A NCBI36
NG_008896.1:g.15478T>A
NG_008896.2:g.15478T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1013+48T>A ENSP00000343034.7:n.1013+48T>A
ENST00000404875.7:n.1715+48T>A
ENST00000423007.6:c.1232+48T>A ENSP00000404119.2:n.1232+48T>A
ENST00000677295.2:c.*1519+48T>A ENSP00000504346.2:n.*1519+48T>A
ENST00000678264.2:c.*1358+48T>A ENSP00000503157.2:n.*1358+48T>A
ENST00000682070.1:n.1640+48T>A
ENST00000682813.1:n.1440+48T>A
ENST00000683392.1:n.3922+48T>A
ENST00000683712.1:n.1580+48T>A
ENST00000683900.1:n.3075+48T>A
ENST00000684062.1:n.1841+48T>A
ENST00000684579.1:n.3021+48T>A
ENST00000341012.12:c.1013+48T>A ENSP00000343034.7:n.1013+48T>A
ENST00000372220.5:c.44+48T>A ENSP00000361294.5:n.44+48T>A
ENST00000372228.9:c.1241+48T>A ENSP00000361302.3:n.1241+48T>A
ENST00000402686.8:c.1175+48T>A MANE Select ENSP00000385797.4:n.1175+48T>A
ENST00000676640.1:c.1175+48T>A ENSP00000503281.1:n.1175+48T>A
ENST00000676803.1:c.350+48T>A ENSP00000503093.1:n.350+48T>A
ENST00000676835.1:c.*390+48T>A ENSP00000502911.1:n.*390+48T>A
ENST00000677029.1:c.719+48T>A ENSP00000502936.1:n.719+48T>A
ENST00000677099.1:c.*885+48T>A ENSP00000504553.1:n.*885+48T>A
ENST00000677216.1:c.824+48T>A ENSP00000503772.1:n.824+48T>A
ENST00000677293.1:c.350+48T>A ENSP00000504278.1:n.350+48T>A
ENST00000677295.1:c.*552+48T>A ENSP00000504346.1:n.*552+48T>A
ENST00000677444.1:c.981+48T>A
ENST00000677586.1:n.656+48T>A
ENST00000677626.1:c.824+1912T>A ENSP00000503552.1:n.824+1912T>A
ENST00000677677.1:n.1135+48T>A
ENST00000677853.1:c.*183+48T>A ENSP00000503488.1:n.*183+48T>A
ENST00000677944.1:c.437+48T>A
ENST00000678264.1:c.*552+48T>A ENSP00000503157.1:n.*552+48T>A
ENST00000678303.1:c.1085+48T>A ENSP00000503696.1:n.1085+48T>A
ENST00000678366.1:c.*1424+48T>A ENSP00000504353.1:n.*1424+48T>A
ENST00000678546.1:c.*1120+48T>A ENSP00000503062.1:n.*1120+48T>A
ENST00000678548.1:c.*1247+48T>A ENSP00000503934.1:n.*1247+48T>A
ENST00000678626.1:n.872+48T>A
ENST00000678733.1:c.256+1243T>A
ENST00000678739.1:c.*1501+48T>A ENSP00000503806.1:n.*1501+48T>A
ENST00000678795.1:n.262+48T>A
ENST00000678833.1:c.*622+48T>A ENSP00000503893.1:n.*622+48T>A
ENST00000678942.1:c.355+48T>A ENSP00000504690.1:n.355+48T>A
ENST00000679023.1:c.1013+48T>A ENSP00000503718.1:n.1013+48T>A
ENST00000679076.1:c.794+48T>A
ENST00000679111.1:c.1175+48T>A ENSP00000504257.1:n.1175+48T>A
ENST00000679189.1:c.824+48T>A ENSP00000503356.1:n.824+48T>A
ENST00000341012.11:c.1013+48T>A ENSP00000343034.7:n.1013+48T>A
ENST00000372228.7:c.1241+48T>A ENSP00000361302.3:n.1241+48T>A
ENST00000402686.7:c.1175+48T>A ENSP00000385797.3:n.1175+48T>A
ENST00000404875.6:c.824+48T>A ENSP00000384531.2:n.824+48T>A
ENST00000423007.5:c.1175+48T>A ENSP00000404119.1:n.1175+48T>A
ENST00000485278.5:n.1730+48T>A
NM_001077365.1:c.1175+48T>A NP_001070833.1:n.1175+48T>A
NM_001077366.1:c.1013+48T>A NP_001070834.1:n.1013+48T>A
NM_001136113.1:c.1175+48T>A NP_001129585.1:n.1175+48T>A
NM_001136114.1:c.824+48T>A NP_001129586.1:n.824+48T>A
NM_007171.3:c.1241+48T>A NP_009102.3:n.1241+48T>A
XM_005272156.1:c.1241+48T>A XP_005272213.1:n.1241+48T>A
XM_005272158.1:c.1079+48T>A XP_005272215.1:n.1079+48T>A
XM_005272159.1:c.890+48T>A XP_005272216.1:n.890+48T>A
XM_005272162.1:c.44+48T>A XP_005272219.1:n.44+48T>A
XM_006716932.1:c.890+48T>A XP_006716995.1:n.890+48T>A
XM_011518140.1:c.1094+48T>A XP_011516442.1:n.1094+48T>A
XM_011518141.1:c.1028+48T>A XP_011516443.1:n.1028+48T>A
XM_011518142.1:c.932+48T>A XP_011516444.1:n.932+48T>A
XM_011518143.1:c.926+48T>A XP_011516445.1:n.926+48T>A
XM_011518144.1:c.1241+48T>A XP_011516446.1:n.1241+48T>A
XM_011518145.1:c.785+48T>A XP_011516447.1:n.785+48T>A
XM_011518146.1:c.926+48T>A XP_011516448.1:n.926+48T>A
XR_929703.1:n.1417+48T>A
NM_001353193.1:c.1241+48T>A NP_001340122.1:n.1241+48T>A
NM_001353194.1:c.1013+48T>A NP_001340123.1:n.1013+48T>A
NM_001353195.1:c.824+48T>A NP_001340124.1:n.824+48T>A
NM_001353196.1:c.1085+48T>A NP_001340125.1:n.1085+48T>A
NM_001353197.1:c.1079+48T>A NP_001340126.1:n.1079+48T>A
NM_001353198.1:c.1079+48T>A NP_001340127.1:n.1079+48T>A
NM_001353199.1:c.890+48T>A NP_001340128.1:n.890+48T>A
NM_001353200.1:c.719+48T>A NP_001340129.1:n.719+48T>A
NR_148391.1:n.1225+48T>A
NR_148392.1:n.1443+48T>A
NR_148393.1:n.1225+48T>A
NR_148394.1:n.1118+48T>A
NR_148395.1:n.1377+48T>A
NR_148396.1:n.1011+48T>A
NR_148397.1:n.1275+48T>A
NR_148398.1:n.1230+48T>A
NR_148399.1:n.1617+48T>A
NR_148400.1:n.1216+48T>A
XM_005272162.3:c.44+48T>A XP_005272219.1:n.44+48T>A
XM_006716932.2:c.890+48T>A XP_006716995.1:n.890+48T>A
XM_011518140.2:c.1094+48T>A XP_011516442.1:n.1094+48T>A
XM_011518141.2:c.1028+48T>A XP_011516443.1:n.1028+48T>A
XM_011518142.2:c.932+48T>A XP_011516444.1:n.932+48T>A
XM_011518143.2:c.926+48T>A XP_011516445.1:n.926+48T>A
XM_011518145.2:c.785+48T>A XP_011516447.1:n.785+48T>A
XM_017014205.2:c.44+48T>A XP_016869694.1:n.44+48T>A
XM_024447380.1:c.44+48T>A XP_024303148.1:n.44+48T>A
XM_024447381.1:c.350+48T>A XP_024303149.1:n.350+48T>A
XM_024447382.1:c.44+48T>A XP_024303150.1:n.44+48T>A
XR_001746160.2:n.1345+48T>A
XR_001746162.2:n.1411+48T>A
XR_001746164.1:n.1128+48T>A
XR_001746166.2:n.1562+48T>A
NM_001077365.2:c.1175+48T>A MANE Select NP_001070833.1:n.1175+48T>A
NM_001077366.2:c.1013+48T>A NP_001070834.1:n.1013+48T>A
NM_001136113.2:c.1175+48T>A NP_001129585.1:n.1175+48T>A
NM_001136114.2:c.824+48T>A NP_001129586.1:n.824+48T>A
NM_001353193.2:c.1241+48T>A NP_001340122.2:n.1241+48T>A
NM_001353194.2:c.1013+48T>A NP_001340123.1:n.1013+48T>A
NM_001353195.2:c.824+48T>A NP_001340124.1:n.824+48T>A
NM_001353196.2:c.1085+48T>A NP_001340125.1:n.1085+48T>A
NM_001353197.2:c.1079+48T>A NP_001340126.2:n.1079+48T>A
NM_001353198.2:c.1079+48T>A NP_001340127.2:n.1079+48T>A
NM_001353199.2:c.890+48T>A NP_001340128.2:n.890+48T>A
NM_001353200.2:c.719+48T>A NP_001340129.1:n.719+48T>A
NM_001374689.1:c.1163+48T>A NP_001361618.1:n.1163+48T>A
NM_001374690.1:c.1175+48T>A NP_001361619.1:n.1175+48T>A
NM_001374691.1:c.824+48T>A NP_001361620.1:n.824+48T>A
NM_001374692.1:c.824+48T>A NP_001361621.1:n.824+48T>A
NM_001374693.1:c.824+1912T>A NP_001361622.1:n.824+1912T>A
NM_001374695.1:c.785+48T>A NP_001361624.1:n.785+48T>A
NM_007171.4:c.1241+48T>A NP_009102.4:n.1241+48T>A
NR_148391.2:n.1209+48T>A
NR_148392.2:n.1427+48T>A
NR_148393.2:n.1209+48T>A
NR_148394.2:n.1102+48T>A
NR_148395.2:n.1361+48T>A
NR_148396.2:n.995+48T>A
NR_148397.2:n.1259+48T>A
NR_148398.2:n.1214+48T>A
NR_148399.2:n.1601+48T>A
NR_148400.2:n.1200+48T>A
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