Canonical Allele Identifier: CA375311320

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393880T>A (hg19) ; chr9:g.131518493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518493T>A , CM000671.2:g.131518493T>A	GRCh38
NC_000009.11:g.134393880T>A , CM000671.1:g.134393880T>A	GRCh37
NC_000009.10:g.133383701T>A	NCBI36
NG_008896.1:g.20592T>A
NG_008896.2:g.20592T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1159T>A	ENSP00000343034.7:p.Ser387Thr
ENST00000404875.7:n.1861T>A
ENST00000423007.6:c.1378T>A	ENSP00000404119.2:p.Ser460Thr
ENST00000677295.2:c.*1665T>A	ENSP00000504346.2:n.*1665T>A
ENST00000678264.2:c.*1504T>A	ENSP00000503157.2:n.*1504T>A
ENST00000682070.1:n.1786T>A
ENST00000682535.1:n.93T>A
ENST00000682539.1:c.259T>A
ENST00000682813.1:n.1586T>A
ENST00000683110.1:n.49T>A
ENST00000683392.1:n.4068T>A
ENST00000683712.1:n.1726T>A
ENST00000683900.1:n.3221T>A
ENST00000684062.1:n.1987T>A
ENST00000684579.1:n.3167T>A
ENST00000684679.1:n.548T>A
ENST00000341012.12:c.1159T>A	ENSP00000343034.7:p.Ser387Thr
ENST00000372220.5:c.190T>A	ENSP00000361294.5:p.Ser64Thr
ENST00000372228.9:c.1387T>A	ENSP00000361302.3:p.Ser463Thr
ENST00000402686.8:c.1321T>A MANE Select	ENSP00000385797.4:p.Ser441Thr
ENST00000676640.1:c.1321T>A	ENSP00000503281.1:p.Ser441Thr
ENST00000676803.1:c.496T>A	ENSP00000503093.1:p.Ser166Thr
ENST00000676835.1:c.*536T>A	ENSP00000502911.1:n.*536T>A
ENST00000677029.1:c.865T>A	ENSP00000502936.1:p.Ser289Thr
ENST00000677099.1:c.*1031T>A	ENSP00000504553.1:n.*1031T>A
ENST00000677216.1:c.970T>A	ENSP00000503772.1:p.Ser324Thr
ENST00000677221.1:n.346T>A
ENST00000677295.1:c.*698T>A	ENSP00000504346.1:n.*698T>A
ENST00000677444.1:c.1127T>A
ENST00000677586.1:n.802T>A
ENST00000677626.1:c.970T>A	ENSP00000503552.1:p.Ser324Thr
ENST00000677677.1:n.1281T>A
ENST00000677853.1:c.*329T>A	ENSP00000503488.1:n.*329T>A
ENST00000677983.1:n.410T>A
ENST00000678202.1:n.341T>A
ENST00000678264.1:c.*698T>A	ENSP00000503157.1:n.*698T>A
ENST00000678303.1:c.1231T>A	ENSP00000503696.1:p.Ser411Thr
ENST00000678366.1:c.*1570T>A	ENSP00000504353.1:n.*1570T>A
ENST00000678546.1:c.*1266T>A	ENSP00000503062.1:n.*1266T>A
ENST00000678548.1:c.*1393T>A	ENSP00000503934.1:n.*1393T>A
ENST00000678626.1:n.1018T>A
ENST00000678733.1:c.402T>A
ENST00000678739.1:c.*1647T>A	ENSP00000503806.1:n.*1647T>A
ENST00000678795.1:n.408T>A
ENST00000678833.1:c.*768T>A	ENSP00000503893.1:n.*768T>A
ENST00000678942.1:c.501T>A	ENSP00000504690.1:n.501T>A
ENST00000679023.1:c.1159T>A	ENSP00000503718.1:p.Ser387Thr
ENST00000679076.1:c.940T>A
ENST00000679111.1:c.1321T>A	ENSP00000504257.1:p.Ser441Thr
ENST00000679189.1:c.970T>A	ENSP00000503356.1:p.Ser324Thr
ENST00000341012.11:c.1159T>A	ENSP00000343034.7:p.Ser387Thr
ENST00000372220.4:c.184T>A	ENSP00000361294.4:p.Ser62Thr
ENST00000372228.7:c.1387T>A	ENSP00000361302.3:p.Ser463Thr
ENST00000402686.7:c.1321T>A	ENSP00000385797.3:p.Ser441Thr
ENST00000404875.6:c.970T>A	ENSP00000384531.2:p.Ser324Thr
ENST00000423007.5:c.1321T>A	ENSP00000404119.1:p.Ser441Thr
ENST00000485278.5:n.1876T>A
NM_001077365.1:c.1321T>A	NP_001070833.1:p.Ser441Thr
NM_001077366.1:c.1159T>A	NP_001070834.1:p.Ser387Thr
NM_001136113.1:c.1321T>A	NP_001129585.1:p.Ser441Thr
NM_001136114.1:c.970T>A	NP_001129586.1:p.Ser324Thr
NM_007171.3:c.1387T>A	NP_009102.3:p.Ser463Thr
XM_005272156.1:c.1387T>A	XP_005272213.1:p.Ser463Thr
XM_005272158.1:c.1225T>A	XP_005272215.1:p.Ser409Thr
XM_005272159.1:c.1036T>A	XP_005272216.1:p.Ser346Thr
XM_005272162.1:c.190T>A	XP_005272219.1:p.Ser64Thr
XM_006716932.1:c.1036T>A	XP_006716995.1:p.Ser346Thr
XM_011518140.1:c.1240T>A	XP_011516442.1:p.Ser414Thr
XM_011518141.1:c.1174T>A	XP_011516443.1:p.Ser392Thr
XM_011518142.1:c.1078T>A	XP_011516444.1:p.Ser360Thr
XM_011518143.1:c.1072T>A	XP_011516445.1:p.Ser358Thr
XM_011518144.1:c.1387T>A	XP_011516446.1:p.Ser463Thr
XM_011518145.1:c.931T>A	XP_011516447.1:p.Ser311Thr
XM_011518146.1:c.1072T>A	XP_011516448.1:p.Ser358Thr
XM_011518147.1:c.259T>A	XP_011516449.1:p.Ser87Thr
XR_929703.1:n.1563T>A
NM_001353193.1:c.1387T>A	NP_001340122.1:p.Ser463Thr
NM_001353194.1:c.1159T>A	NP_001340123.1:p.Ser387Thr
NM_001353195.1:c.970T>A	NP_001340124.1:p.Ser324Thr
NM_001353196.1:c.1231T>A	NP_001340125.1:p.Ser411Thr
NM_001353197.1:c.1225T>A	NP_001340126.1:p.Ser409Thr
NM_001353198.1:c.1225T>A	NP_001340127.1:p.Ser409Thr
NM_001353199.1:c.1036T>A	NP_001340128.1:p.Ser346Thr
NM_001353200.1:c.865T>A	NP_001340129.1:p.Ser289Thr
NR_148391.1:n.1371T>A
NR_148392.1:n.1589T>A
NR_148393.1:n.1371T>A
NR_148394.1:n.1264T>A
NR_148395.1:n.1523T>A
NR_148396.1:n.1157T>A
NR_148397.1:n.1421T>A
NR_148398.1:n.1376T>A
NR_148399.1:n.1763T>A
NR_148400.1:n.1362T>A
XM_005272162.3:c.190T>A	XP_005272219.1:p.Ser64Thr
XM_006716932.2:c.1036T>A	XP_006716995.1:p.Ser346Thr
XM_011518140.2:c.1240T>A	XP_011516442.1:p.Ser414Thr
XM_011518141.2:c.1174T>A	XP_011516443.1:p.Ser392Thr
XM_011518142.2:c.1078T>A	XP_011516444.1:p.Ser360Thr
XM_011518143.2:c.1072T>A	XP_011516445.1:p.Ser358Thr
XM_011518145.2:c.931T>A	XP_011516447.1:p.Ser311Thr
XM_017014205.2:c.190T>A	XP_016869694.1:p.Ser64Thr
XM_024447380.1:c.190T>A	XP_024303148.1:p.Ser64Thr
XM_024447381.1:c.496T>A	XP_024303149.1:p.Ser166Thr
XM_024447382.1:c.190T>A	XP_024303150.1:p.Ser64Thr
XR_001746160.2:n.1491T>A
XR_001746162.2:n.1557T>A
XR_001746164.1:n.1274T>A
XR_001746166.2:n.1708T>A
NM_001077365.2:c.1321T>A MANE Select	NP_001070833.1:p.Ser441Thr
NM_001077366.2:c.1159T>A	NP_001070834.1:p.Ser387Thr
NM_001136113.2:c.1321T>A	NP_001129585.1:p.Ser441Thr
NM_001136114.2:c.970T>A	NP_001129586.1:p.Ser324Thr
NM_001353193.2:c.1387T>A	NP_001340122.2:p.Ser463Thr
NM_001353194.2:c.1159T>A	NP_001340123.1:p.Ser387Thr
NM_001353195.2:c.970T>A	NP_001340124.1:p.Ser324Thr
NM_001353196.2:c.1231T>A	NP_001340125.1:p.Ser411Thr
NM_001353197.2:c.1225T>A	NP_001340126.2:p.Ser409Thr
NM_001353198.2:c.1225T>A	NP_001340127.2:p.Ser409Thr
NM_001353199.2:c.1036T>A	NP_001340128.2:p.Ser346Thr
NM_001353200.2:c.865T>A	NP_001340129.1:p.Ser289Thr
NM_001374689.1:c.1309T>A	NP_001361618.1:p.Ser437Thr
NM_001374690.1:c.1321T>A	NP_001361619.1:p.Ser441Thr
NM_001374691.1:c.970T>A	NP_001361620.1:p.Ser324Thr
NM_001374692.1:c.970T>A	NP_001361621.1:p.Ser324Thr
NM_001374693.1:c.970T>A	NP_001361622.1:p.Ser324Thr
NM_001374695.1:c.931T>A	NP_001361624.1:p.Ser311Thr
NM_007171.4:c.1387T>A	NP_009102.4:p.Ser463Thr
NR_148391.2:n.1355T>A
NR_148392.2:n.1573T>A
NR_148393.2:n.1355T>A
NR_148394.2:n.1248T>A
NR_148395.2:n.1507T>A
NR_148396.2:n.1141T>A
NR_148397.2:n.1405T>A
NR_148398.2:n.1360T>A
NR_148399.2:n.1747T>A
NR_148400.2:n.1346T>A