Canonical Allele Identifier: CA1881751930

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518521C= , CM000671.2:g.131518521C=	GRCh38
NC_000009.11:g.134393908C= , CM000671.1:g.134393908C=	GRCh37
NC_000009.10:g.133383729C=	NCBI36
NG_008896.1:g.20620C=
NG_008896.2:g.20620C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1187C=	ENSP00000343034.7:p.Thr396=
ENST00000404875.7:n.1889C=
ENST00000423007.6:c.1406C=	ENSP00000404119.2:p.Thr469=
ENST00000677295.2:c.*1693C=	ENSP00000504346.2:n.*1693C=
ENST00000678264.2:c.*1532C=	ENSP00000503157.2:n.*1532C=
ENST00000682070.1:n.1814C=
ENST00000682535.1:n.121C=
ENST00000682539.1:c.287C=
ENST00000682813.1:n.1614C=
ENST00000683110.1:n.77C=
ENST00000683392.1:n.4096C=
ENST00000683712.1:n.1754C=
ENST00000683900.1:n.3249C=
ENST00000684062.1:n.2015C=
ENST00000684579.1:n.3195C=
ENST00000684679.1:n.576C=
ENST00000341012.12:c.1187C=	ENSP00000343034.7:p.Thr396=
ENST00000372220.5:c.218C=	ENSP00000361294.5:p.Thr73=
ENST00000372228.9:c.1415C=	ENSP00000361302.3:p.Thr472=
ENST00000402686.8:c.1349C= MANE Select	ENSP00000385797.4:p.Thr450=
ENST00000676640.1:c.1349C=	ENSP00000503281.1:p.Thr450=
ENST00000676803.1:c.524C=	ENSP00000503093.1:p.Thr175=
ENST00000676835.1:c.*564C=	ENSP00000502911.1:n.*564C=
ENST00000677029.1:c.893C=	ENSP00000502936.1:p.Thr298=
ENST00000677099.1:c.*1059C=	ENSP00000504553.1:n.*1059C=
ENST00000677216.1:c.998C=	ENSP00000503772.1:p.Thr333=
ENST00000677221.1:n.374C=
ENST00000677295.1:c.*726C=	ENSP00000504346.1:n.*726C=
ENST00000677444.1:c.1155C=
ENST00000677586.1:n.830C=
ENST00000677626.1:c.998C=	ENSP00000503552.1:p.Thr333=
ENST00000677677.1:n.1309C=
ENST00000677853.1:c.*357C=	ENSP00000503488.1:n.*357C=
ENST00000677983.1:n.438C=
ENST00000678202.1:n.369C=
ENST00000678264.1:c.*726C=	ENSP00000503157.1:n.*726C=
ENST00000678303.1:c.1259C=	ENSP00000503696.1:p.Thr420=
ENST00000678366.1:c.*1598C=	ENSP00000504353.1:n.*1598C=
ENST00000678546.1:c.*1294C=	ENSP00000503062.1:n.*1294C=
ENST00000678548.1:c.*1421C=	ENSP00000503934.1:n.*1421C=
ENST00000678626.1:n.1046C=
ENST00000678733.1:c.430C=
ENST00000678739.1:c.*1675C=	ENSP00000503806.1:n.*1675C=
ENST00000678795.1:n.436C=
ENST00000678833.1:c.*796C=	ENSP00000503893.1:n.*796C=
ENST00000678942.1:c.529C=	ENSP00000504690.1:n.529C=
ENST00000679023.1:c.1187C=	ENSP00000503718.1:p.Thr396=
ENST00000679076.1:c.968C=
ENST00000679111.1:c.1349C=	ENSP00000504257.1:p.Thr450=
ENST00000679189.1:c.998C=	ENSP00000503356.1:p.Thr333=
ENST00000341012.11:c.1187C=	ENSP00000343034.7:p.Thr396=
ENST00000372220.4:c.212C=	ENSP00000361294.4:p.Thr71=
ENST00000372228.7:c.1415C=	ENSP00000361302.3:p.Thr472=
ENST00000402686.7:c.1349C=	ENSP00000385797.3:p.Thr450=
ENST00000404875.6:c.998C=	ENSP00000384531.2:p.Thr333=
ENST00000423007.5:c.1349C=	ENSP00000404119.1:p.Thr450=
ENST00000485278.5:n.1904C=
NM_001077365.1:c.1349C=	NP_001070833.1:p.Thr450=
NM_001077366.1:c.1187C=	NP_001070834.1:p.Thr396=
NM_001136113.1:c.1349C=	NP_001129585.1:p.Thr450=
NM_001136114.1:c.998C=	NP_001129586.1:p.Thr333=
NM_007171.3:c.1415C=	NP_009102.3:p.Thr472=
XM_005272156.1:c.1415C=	XP_005272213.1:p.Thr472=
XM_005272158.1:c.1253C=	XP_005272215.1:p.Thr418=
XM_005272159.1:c.1064C=	XP_005272216.1:p.Thr355=
XM_005272162.1:c.218C=	XP_005272219.1:p.Thr73=
XM_006716932.1:c.1064C=	XP_006716995.1:p.Thr355=
XM_011518140.1:c.1268C=	XP_011516442.1:p.Thr423=
XM_011518141.1:c.1202C=	XP_011516443.1:p.Thr401=
XM_011518142.1:c.1106C=	XP_011516444.1:p.Thr369=
XM_011518143.1:c.1100C=	XP_011516445.1:p.Thr367=
XM_011518144.1:c.1415C=	XP_011516446.1:p.Thr472=
XM_011518145.1:c.959C=	XP_011516447.1:p.Thr320=
XM_011518146.1:c.1100C=	XP_011516448.1:p.Thr367=
XM_011518147.1:c.287C=	XP_011516449.1:p.Thr96=
XR_929703.1:n.1591C=
NM_001353193.1:c.1415C=	NP_001340122.1:p.Thr472=
NM_001353194.1:c.1187C=	NP_001340123.1:p.Thr396=
NM_001353195.1:c.998C=	NP_001340124.1:p.Thr333=
NM_001353196.1:c.1259C=	NP_001340125.1:p.Thr420=
NM_001353197.1:c.1253C=	NP_001340126.1:p.Thr418=
NM_001353198.1:c.1253C=	NP_001340127.1:p.Thr418=
NM_001353199.1:c.1064C=	NP_001340128.1:p.Thr355=
NM_001353200.1:c.893C=	NP_001340129.1:p.Thr298=
NR_148391.1:n.1399C=
NR_148392.1:n.1617C=
NR_148393.1:n.1399C=
NR_148394.1:n.1292C=
NR_148395.1:n.1551C=
NR_148396.1:n.1185C=
NR_148397.1:n.1449C=
NR_148398.1:n.1404C=
NR_148399.1:n.1791C=
NR_148400.1:n.1390C=
XM_005272162.3:c.218C=	XP_005272219.1:p.Thr73=
XM_006716932.2:c.1064C=	XP_006716995.1:p.Thr355=
XM_011518140.2:c.1268C=	XP_011516442.1:p.Thr423=
XM_011518141.2:c.1202C=	XP_011516443.1:p.Thr401=
XM_011518142.2:c.1106C=	XP_011516444.1:p.Thr369=
XM_011518143.2:c.1100C=	XP_011516445.1:p.Thr367=
XM_011518145.2:c.959C=	XP_011516447.1:p.Thr320=
XM_017014205.2:c.218C=	XP_016869694.1:p.Thr73=
XM_024447380.1:c.218C=	XP_024303148.1:p.Thr73=
XM_024447381.1:c.524C=	XP_024303149.1:p.Thr175=
XM_024447382.1:c.218C=	XP_024303150.1:p.Thr73=
XR_001746160.2:n.1519C=
XR_001746162.2:n.1585C=
XR_001746164.1:n.1302C=
XR_001746166.2:n.1736C=
NM_001077365.2:c.1349C= MANE Select	NP_001070833.1:p.Thr450=
NM_001077366.2:c.1187C=	NP_001070834.1:p.Thr396=
NM_001136113.2:c.1349C=	NP_001129585.1:p.Thr450=
NM_001136114.2:c.998C=	NP_001129586.1:p.Thr333=
NM_001353193.2:c.1415C=	NP_001340122.2:p.Thr472=
NM_001353194.2:c.1187C=	NP_001340123.1:p.Thr396=
NM_001353195.2:c.998C=	NP_001340124.1:p.Thr333=
NM_001353196.2:c.1259C=	NP_001340125.1:p.Thr420=
NM_001353197.2:c.1253C=	NP_001340126.2:p.Thr418=
NM_001353198.2:c.1253C=	NP_001340127.2:p.Thr418=
NM_001353199.2:c.1064C=	NP_001340128.2:p.Thr355=
NM_001353200.2:c.893C=	NP_001340129.1:p.Thr298=
NM_001374689.1:c.1337C=	NP_001361618.1:p.Thr446=
NM_001374690.1:c.1349C=	NP_001361619.1:p.Thr450=
NM_001374691.1:c.998C=	NP_001361620.1:p.Thr333=
NM_001374692.1:c.998C=	NP_001361621.1:p.Thr333=
NM_001374693.1:c.998C=	NP_001361622.1:p.Thr333=
NM_001374695.1:c.959C=	NP_001361624.1:p.Thr320=
NM_007171.4:c.1415C=	NP_009102.4:p.Thr472=
NR_148391.2:n.1383C=
NR_148392.2:n.1601C=
NR_148393.2:n.1383C=
NR_148394.2:n.1276C=
NR_148395.2:n.1535C=
NR_148396.2:n.1169C=
NR_148397.2:n.1433C=
NR_148398.2:n.1388C=
NR_148399.2:n.1775C=
NR_148400.2:n.1374C=