Canonical Allele Identifier: CA375310006

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515476A>G , CM000671.2:g.131515476A>G	GRCh38
NC_000009.11:g.134390863A>G , CM000671.1:g.134390863A>G	GRCh37
NC_000009.10:g.133380684A>G	NCBI36
NG_008896.1:g.17575A>G
NG_008896.2:g.17575A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1226A>G MANE Select	NP_001070833.1:p.Tyr409Cys
ENST00000402686.8:c.1226A>G MANE Select	ENSP00000385797.4:p.Tyr409Cys
NM_001077365.1:c.1226A>G	NP_001070833.1:p.Tyr409Cys
NM_001077366.1:c.1064A>G	NP_001070834.1:p.Tyr355Cys
NM_001077366.2:c.1064A>G	NP_001070834.1:p.Tyr355Cys
NM_001136113.1:c.1226A>G	NP_001129585.1:p.Tyr409Cys
NM_001136113.2:c.1226A>G	NP_001129585.1:p.Tyr409Cys
NM_001136114.1:c.875A>G	NP_001129586.1:p.Tyr292Cys
NM_001136114.2:c.875A>G	NP_001129586.1:p.Tyr292Cys
NM_001353193.1:c.1292A>G	NP_001340122.1:p.Tyr431Cys
NM_001353193.2:c.1292A>G	NP_001340122.2:p.Tyr431Cys
NM_001353194.1:c.1064A>G	NP_001340123.1:p.Tyr355Cys
NM_001353194.2:c.1064A>G	NP_001340123.1:p.Tyr355Cys
NM_001353195.1:c.875A>G	NP_001340124.1:p.Tyr292Cys
NM_001353195.2:c.875A>G	NP_001340124.1:p.Tyr292Cys
NM_001353196.1:c.1136A>G	NP_001340125.1:p.Tyr379Cys
NM_001353196.2:c.1136A>G	NP_001340125.1:p.Tyr379Cys
NM_001353197.1:c.1130A>G	NP_001340126.1:p.Tyr377Cys
NM_001353197.2:c.1130A>G	NP_001340126.2:p.Tyr377Cys
NM_001353198.1:c.1130A>G	NP_001340127.1:p.Tyr377Cys
NM_001353198.2:c.1130A>G	NP_001340127.2:p.Tyr377Cys
NM_001353199.1:c.941A>G	NP_001340128.1:p.Tyr314Cys
NM_001353199.2:c.941A>G	NP_001340128.2:p.Tyr314Cys
NM_001353200.1:c.770A>G	NP_001340129.1:p.Tyr257Cys
NM_001353200.2:c.770A>G	NP_001340129.1:p.Tyr257Cys
NM_001374689.1:c.1214A>G	NP_001361618.1:p.Tyr405Cys
NM_001374690.1:c.1226A>G	NP_001361619.1:p.Tyr409Cys
NM_001374691.1:c.875A>G	NP_001361620.1:p.Tyr292Cys
NM_001374692.1:c.875A>G	NP_001361621.1:p.Tyr292Cys
NM_001374693.1:c.875A>G	NP_001361622.1:p.Tyr292Cys
NM_001374695.1:c.836A>G	NP_001361624.1:p.Tyr279Cys
NM_007171.3:c.1292A>G	NP_009102.3:p.Tyr431Cys
NM_007171.4:c.1292A>G	NP_009102.4:p.Tyr431Cys
NR_148391.1:n.1276A>G
NR_148391.2:n.1260A>G
NR_148392.1:n.1494A>G
NR_148392.2:n.1478A>G
NR_148393.1:n.1276A>G
NR_148393.2:n.1260A>G
NR_148394.1:n.1169A>G
NR_148394.2:n.1153A>G
NR_148395.1:n.1428A>G
NR_148395.2:n.1412A>G
NR_148396.1:n.1062A>G
NR_148396.2:n.1046A>G
NR_148397.1:n.1326A>G
NR_148397.2:n.1310A>G
NR_148398.1:n.1281A>G
NR_148398.2:n.1265A>G
NR_148399.1:n.1668A>G
NR_148399.2:n.1652A>G
NR_148400.1:n.1267A>G
NR_148400.2:n.1251A>G
ENST00000341012.11:c.1064A>G	ENSP00000343034.7:p.Tyr355Cys
ENST00000341012.12:c.1064A>G	ENSP00000343034.7:p.Tyr355Cys
ENST00000341012.13:c.1064A>G	ENSP00000343034.7:p.Tyr355Cys
ENST00000372220.5:c.95A>G	ENSP00000361294.5:p.Tyr32Cys
ENST00000372228.7:c.1292A>G	ENSP00000361302.3:p.Tyr431Cys
ENST00000372228.9:c.1292A>G	ENSP00000361302.3:p.Tyr431Cys
ENST00000402686.7:c.1226A>G	ENSP00000385797.3:p.Tyr409Cys
ENST00000404875.6:c.875A>G	ENSP00000384531.2:p.Tyr292Cys
ENST00000404875.7:n.1766A>G
ENST00000423007.5:c.1226A>G	ENSP00000404119.1:p.Tyr409Cys
ENST00000423007.6:c.1283A>G	ENSP00000404119.2:p.Tyr428Cys
ENST00000485278.5:n.1781A>G
ENST00000676640.1:c.1226A>G	ENSP00000503281.1:p.Tyr409Cys
ENST00000676803.1:c.401A>G	ENSP00000503093.1:p.Tyr134Cys
ENST00000676835.1:c.*441A>G	ENSP00000502911.1:n.*441A>G
ENST00000677029.1:c.770A>G	ENSP00000502936.1:p.Tyr257Cys
ENST00000677099.1:c.*936A>G	ENSP00000504553.1:n.*936A>G
ENST00000677216.1:c.875A>G	ENSP00000503772.1:p.Tyr292Cys
ENST00000677295.1:c.*603A>G	ENSP00000504346.1:n.*603A>G
ENST00000677295.2:c.*1570A>G	ENSP00000504346.2:n.*1570A>G
ENST00000677444.1:c.1032A>G
ENST00000677586.1:n.707A>G
ENST00000677626.1:c.875A>G	ENSP00000503552.1:p.Tyr292Cys
ENST00000677677.1:n.1186A>G
ENST00000677853.1:c.*234A>G	ENSP00000503488.1:n.*234A>G
ENST00000677944.1:c.488A>G
ENST00000678264.1:c.*603A>G	ENSP00000503157.1:n.*603A>G
ENST00000678264.2:c.*1409A>G	ENSP00000503157.2:n.*1409A>G
ENST00000678303.1:c.1136A>G	ENSP00000503696.1:p.Tyr379Cys
ENST00000678366.1:c.*1475A>G	ENSP00000504353.1:n.*1475A>G
ENST00000678546.1:c.*1171A>G	ENSP00000503062.1:n.*1171A>G
ENST00000678548.1:c.*1298A>G	ENSP00000503934.1:n.*1298A>G
ENST00000678626.1:n.923A>G
ENST00000678733.1:c.307A>G
ENST00000678739.1:c.*1552A>G	ENSP00000503806.1:n.*1552A>G
ENST00000678795.1:n.313A>G
ENST00000678833.1:c.*673A>G	ENSP00000503893.1:n.*673A>G
ENST00000678942.1:c.406A>G	ENSP00000504690.1:n.406A>G
ENST00000679023.1:c.1064A>G	ENSP00000503718.1:p.Tyr355Cys
ENST00000679076.1:c.845A>G
ENST00000679111.1:c.1226A>G	ENSP00000504257.1:p.Tyr409Cys
ENST00000679189.1:c.875A>G	ENSP00000503356.1:p.Tyr292Cys
ENST00000682070.1:n.1691A>G
ENST00000682539.1:c.51A>G
ENST00000682813.1:n.1491A>G
ENST00000683392.1:n.3973A>G
ENST00000683712.1:n.1631A>G
ENST00000683900.1:n.3126A>G
ENST00000684062.1:n.1892A>G
ENST00000684579.1:n.3072A>G
XM_005272156.1:c.1292A>G	XP_005272213.1:p.Tyr431Cys
XM_005272158.1:c.1130A>G	XP_005272215.1:p.Tyr377Cys
XM_005272159.1:c.941A>G	XP_005272216.1:p.Tyr314Cys
XM_005272162.1:c.95A>G	XP_005272219.1:p.Tyr32Cys
XM_005272162.3:c.95A>G	XP_005272219.1:p.Tyr32Cys
XM_006716932.1:c.941A>G	XP_006716995.1:p.Tyr314Cys
XM_006716932.2:c.941A>G	XP_006716995.1:p.Tyr314Cys
XM_011518140.1:c.1145A>G	XP_011516442.1:p.Tyr382Cys
XM_011518140.2:c.1145A>G	XP_011516442.1:p.Tyr382Cys
XM_011518141.1:c.1079A>G	XP_011516443.1:p.Tyr360Cys
XM_011518141.2:c.1079A>G	XP_011516443.1:p.Tyr360Cys
XM_011518142.1:c.983A>G	XP_011516444.1:p.Tyr328Cys
XM_011518142.2:c.983A>G	XP_011516444.1:p.Tyr328Cys
XM_011518143.1:c.977A>G	XP_011516445.1:p.Tyr326Cys
XM_011518143.2:c.977A>G	XP_011516445.1:p.Tyr326Cys
XM_011518144.1:c.1292A>G	XP_011516446.1:p.Tyr431Cys
XM_011518145.1:c.836A>G	XP_011516447.1:p.Tyr279Cys
XM_011518145.2:c.836A>G	XP_011516447.1:p.Tyr279Cys
XM_011518146.1:c.977A>G	XP_011516448.1:p.Tyr326Cys
XM_017014205.2:c.95A>G	XP_016869694.1:p.Tyr32Cys
XM_024447380.1:c.95A>G	XP_024303148.1:p.Tyr32Cys
XM_024447381.1:c.401A>G	XP_024303149.1:p.Tyr134Cys
XM_024447382.1:c.95A>G	XP_024303150.1:p.Tyr32Cys
XR_001746160.2:n.1396A>G
XR_001746162.2:n.1462A>G
XR_001746164.1:n.1179A>G
XR_001746166.2:n.1613A>G
XR_929703.1:n.1468A>G