Canonical Allele Identifier: CA2740092887

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2951641
• ClinVar RCV Id: RCV003812328

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513292_131513293dup , CM000671.2:g.131513292_131513293dup	GRCh38
NC_000009.11:g.134388679_134388680dup , CM000671.1:g.134388679_134388680dup	GRCh37
NC_000009.10:g.133378500_133378501dup	NCBI36
NG_008896.1:g.15391_15392dup
NG_008896.2:g.15391_15392dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.974_975dup	ENSP00000343034.7:p.Gln326CysfsTer7
ENST00000404875.7:n.1676_1677dup
ENST00000423007.6:c.1193_1194dup	ENSP00000404119.2:p.Gln399CysfsTer7
ENST00000677295.2:c.*1480_*1481dup	ENSP00000504346.2:n.*1480_*1481dup
ENST00000678264.2:c.*1319_*1320dup	ENSP00000503157.2:n.*1319_*1320dup
ENST00000682070.1:n.1601_1602dup
ENST00000682813.1:n.1401_1402dup
ENST00000683392.1:n.3883_3884dup
ENST00000683712.1:n.1541_1542dup
ENST00000683900.1:n.3036_3037dup
ENST00000684062.1:n.1802_1803dup
ENST00000684579.1:n.2982_2983dup
ENST00000341012.12:c.974_975dup	ENSP00000343034.7:p.Gln326CysfsTer7
ENST00000372220.5:c.5_6dup	ENSP00000361294.5:p.Gln3CysfsTer7
ENST00000372228.9:c.1202_1203dup	ENSP00000361302.3:p.Gln402CysfsTer7
ENST00000402686.8:c.1136_1137dup MANE Select	ENSP00000385797.4:p.Gln380CysfsTer7
ENST00000676640.1:c.1136_1137dup	ENSP00000503281.1:p.Gln380CysfsTer7
ENST00000676803.1:c.311_312dup	ENSP00000503093.1:p.Gln105CysfsTer7
ENST00000676835.1:c.*351_*352dup	ENSP00000502911.1:n.*351_*352dup
ENST00000677029.1:c.680_681dup	ENSP00000502936.1:p.Gln228CysfsTer7
ENST00000677099.1:c.*846_*847dup	ENSP00000504553.1:n.*846_*847dup
ENST00000677216.1:c.785_786dup	ENSP00000503772.1:p.Gln263CysfsTer7
ENST00000677293.1:c.311_312dup	ENSP00000504278.1:p.Gln105CysfsTer7
ENST00000677295.1:c.*513_*514dup	ENSP00000504346.1:n.*513_*514dup
ENST00000677444.1:c.942_943dup
ENST00000677586.1:n.617_618dup
ENST00000677626.1:c.824+1825_824+1826dup	ENSP00000503552.1:n.824+1825_824+1826dup
ENST00000677677.1:n.1096_1097dup
ENST00000677853.1:c.*144_*145dup	ENSP00000503488.1:n.*144_*145dup
ENST00000677944.1:c.398_399dup
ENST00000678264.1:c.*513_*514dup	ENSP00000503157.1:n.*513_*514dup
ENST00000678303.1:c.1046_1047dup	ENSP00000503696.1:p.Gln350CysfsTer7
ENST00000678366.1:c.*1385_*1386dup	ENSP00000504353.1:n.*1385_*1386dup
ENST00000678546.1:c.*1081_*1082dup	ENSP00000503062.1:n.*1081_*1082dup
ENST00000678548.1:c.*1208_*1209dup	ENSP00000503934.1:n.*1208_*1209dup
ENST00000678626.1:n.833_834dup
ENST00000678733.1:c.256+1156_256+1157dup
ENST00000678739.1:c.*1462_*1463dup	ENSP00000503806.1:n.*1462_*1463dup
ENST00000678795.1:n.223_224dup
ENST00000678833.1:c.*583_*584dup	ENSP00000503893.1:n.*583_*584dup
ENST00000678942.1:c.316_317dup	ENSP00000504690.1:n.316_317dup
ENST00000679023.1:c.974_975dup	ENSP00000503718.1:p.Gln326CysfsTer7
ENST00000679073.1:c.514_515dup	ENSP00000504356.1:n.514_515dup
ENST00000679076.1:c.755_756dup
ENST00000679111.1:c.1136_1137dup	ENSP00000504257.1:p.Gln380CysfsTer7
ENST00000679189.1:c.785_786dup	ENSP00000503356.1:p.Gln263CysfsTer7
ENST00000341012.11:c.974_975dup	ENSP00000343034.7:p.Gln326CysfsTer7
ENST00000372228.7:c.1202_1203dup	ENSP00000361302.3:p.Gln402CysfsTer7
ENST00000402686.7:c.1136_1137dup	ENSP00000385797.3:p.Gln380CysfsTer7
ENST00000404875.6:c.785_786dup	ENSP00000384531.2:p.Gln263CysfsTer7
ENST00000423007.5:c.1136_1137dup	ENSP00000404119.1:p.Gln380CysfsTer7
ENST00000441334.5:c.851_852dup	ENSP00000395060.1:p.Gln285CysfsTer7
ENST00000462375.5:n.962_963dup
ENST00000485278.5:n.1691_1692dup
NM_001077365.1:c.1136_1137dup	NP_001070833.1:p.Gln380CysfsTer7
NM_001077366.1:c.974_975dup	NP_001070834.1:p.Gln326CysfsTer7
NM_001136113.1:c.1136_1137dup	NP_001129585.1:p.Gln380CysfsTer7
NM_001136114.1:c.785_786dup	NP_001129586.1:p.Gln263CysfsTer7
NM_007171.3:c.1202_1203dup	NP_009102.3:p.Gln402CysfsTer7
XM_005272156.1:c.1202_1203dup	XP_005272213.1:p.Gln402CysfsTer7
XM_005272158.1:c.1040_1041dup	XP_005272215.1:p.Gln348CysfsTer7
XM_005272159.1:c.851_852dup	XP_005272216.1:p.Gln285CysfsTer7
XM_005272162.1:c.5_6dup	XP_005272219.1:p.Gln3CysfsTer7
XM_006716932.1:c.851_852dup	XP_006716995.1:p.Gln285CysfsTer7
XM_011518140.1:c.1055_1056dup	XP_011516442.1:p.Gln353CysfsTer7
XM_011518141.1:c.989_990dup	XP_011516443.1:p.Gln331CysfsTer7
XM_011518142.1:c.893_894dup	XP_011516444.1:p.Gln299CysfsTer7
XM_011518143.1:c.887_888dup	XP_011516445.1:p.Gln297CysfsTer7
XM_011518144.1:c.1202_1203dup	XP_011516446.1:p.Gln402CysfsTer7
XM_011518145.1:c.746_747dup	XP_011516447.1:p.Gln250CysfsTer7
XM_011518146.1:c.887_888dup	XP_011516448.1:p.Gln297CysfsTer7
XR_929703.1:n.1378_1379dup
NM_001353193.1:c.1202_1203dup	NP_001340122.1:p.Gln402CysfsTer7
NM_001353194.1:c.974_975dup	NP_001340123.1:p.Gln326CysfsTer7
NM_001353195.1:c.785_786dup	NP_001340124.1:p.Gln263CysfsTer7
NM_001353196.1:c.1046_1047dup	NP_001340125.1:p.Gln350CysfsTer7
NM_001353197.1:c.1040_1041dup	NP_001340126.1:p.Gln348CysfsTer7
NM_001353198.1:c.1040_1041dup	NP_001340127.1:p.Gln348CysfsTer7
NM_001353199.1:c.851_852dup	NP_001340128.1:p.Gln285CysfsTer7
NM_001353200.1:c.680_681dup	NP_001340129.1:p.Gln228CysfsTer7
NR_148391.1:n.1186_1187dup
NR_148392.1:n.1404_1405dup
NR_148393.1:n.1186_1187dup
NR_148394.1:n.1079_1080dup
NR_148395.1:n.1338_1339dup
NR_148396.1:n.972_973dup
NR_148397.1:n.1236_1237dup
NR_148398.1:n.1191_1192dup
NR_148399.1:n.1578_1579dup
NR_148400.1:n.1177_1178dup
XM_005272162.3:c.5_6dup	XP_005272219.1:p.Gln3CysfsTer7
XM_006716932.2:c.851_852dup	XP_006716995.1:p.Gln285CysfsTer7
XM_011518140.2:c.1055_1056dup	XP_011516442.1:p.Gln353CysfsTer7
XM_011518141.2:c.989_990dup	XP_011516443.1:p.Gln331CysfsTer7
XM_011518142.2:c.893_894dup	XP_011516444.1:p.Gln299CysfsTer7
XM_011518143.2:c.887_888dup	XP_011516445.1:p.Gln297CysfsTer7
XM_011518145.2:c.746_747dup	XP_011516447.1:p.Gln250CysfsTer7
XM_017014205.2:c.5_6dup	XP_016869694.1:p.Gln3CysfsTer7
XM_024447380.1:c.5_6dup	XP_024303148.1:p.Gln3CysfsTer7
XM_024447381.1:c.311_312dup	XP_024303149.1:p.Gln105CysfsTer7
XM_024447382.1:c.5_6dup	XP_024303150.1:p.Gln3CysfsTer7
XR_001746160.2:n.1306_1307dup
XR_001746162.2:n.1372_1373dup
XR_001746164.1:n.1089_1090dup
XR_001746166.2:n.1523_1524dup
NM_001077365.2:c.1136_1137dup MANE Select	NP_001070833.1:p.Gln380CysfsTer7
NM_001077366.2:c.974_975dup	NP_001070834.1:p.Gln326CysfsTer7
NM_001136113.2:c.1136_1137dup	NP_001129585.1:p.Gln380CysfsTer7
NM_001136114.2:c.785_786dup	NP_001129586.1:p.Gln263CysfsTer7
NM_001353193.2:c.1202_1203dup	NP_001340122.2:p.Gln402CysfsTer7
NM_001353194.2:c.974_975dup	NP_001340123.1:p.Gln326CysfsTer7
NM_001353195.2:c.785_786dup	NP_001340124.1:p.Gln263CysfsTer7
NM_001353196.2:c.1046_1047dup	NP_001340125.1:p.Gln350CysfsTer7
NM_001353197.2:c.1040_1041dup	NP_001340126.2:p.Gln348CysfsTer7
NM_001353198.2:c.1040_1041dup	NP_001340127.2:p.Gln348CysfsTer7
NM_001353199.2:c.851_852dup	NP_001340128.2:p.Gln285CysfsTer7
NM_001353200.2:c.680_681dup	NP_001340129.1:p.Gln228CysfsTer7
NM_001374689.1:c.1124_1125dup	NP_001361618.1:p.Gln376CysfsTer7
NM_001374690.1:c.1136_1137dup	NP_001361619.1:p.Gln380CysfsTer7
NM_001374691.1:c.785_786dup	NP_001361620.1:p.Gln263CysfsTer7
NM_001374692.1:c.785_786dup	NP_001361621.1:p.Gln263CysfsTer7
NM_001374693.1:c.824+1825_824+1826dup	NP_001361622.1:n.824+1825_824+1826dup
NM_001374695.1:c.746_747dup	NP_001361624.1:p.Gln250CysfsTer7
NM_007171.4:c.1202_1203dup	NP_009102.4:p.Gln402CysfsTer7
NR_148391.2:n.1170_1171dup
NR_148392.2:n.1388_1389dup
NR_148393.2:n.1170_1171dup
NR_148394.2:n.1063_1064dup
NR_148395.2:n.1322_1323dup
NR_148396.2:n.956_957dup
NR_148397.2:n.1220_1221dup
NR_148398.2:n.1175_1176dup
NR_148399.2:n.1562_1563dup
NR_148400.2:n.1161_1162dup