Canonical Allele Identifier: CA1881752788

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518937A= , CM000671.2:g.131518937A=	GRCh38
NC_000009.11:g.134394324A= , CM000671.1:g.134394324A=	GRCh37
NC_000009.10:g.133384145A=	NCBI36
NG_008896.1:g.21036A=
NG_008896.2:g.21036A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1304A=	ENSP00000343034.7:p.Glu435=
ENST00000404875.7:n.2006A=
ENST00000423007.6:c.1523A=	ENSP00000404119.2:p.Glu508=
ENST00000677295.2:c.*1810A=	ENSP00000504346.2:n.*1810A=
ENST00000678264.2:c.*1649A=	ENSP00000503157.2:n.*1649A=
ENST00000682070.1:n.1931A=
ENST00000682539.1:c.404A=
ENST00000682813.1:n.1870A=
ENST00000683392.1:n.4213A=
ENST00000683712.1:n.1871A=
ENST00000683900.1:n.3366A=
ENST00000684062.1:n.2132A=
ENST00000684579.1:n.3312A=
ENST00000684679.1:n.693A=
ENST00000341012.12:c.1304A=	ENSP00000343034.7:p.Glu435=
ENST00000372220.5:c.335A=	ENSP00000361294.5:p.Glu112=
ENST00000372228.9:c.1532A=	ENSP00000361302.3:p.Glu511=
ENST00000402686.8:c.1466A= MANE Select	ENSP00000385797.4:p.Glu489=
ENST00000676640.1:c.1466A=	ENSP00000503281.1:p.Glu489=
ENST00000676803.1:c.641A=	ENSP00000503093.1:p.Glu214=
ENST00000676835.1:c.*681A=	ENSP00000502911.1:n.*681A=
ENST00000677029.1:c.1010A=	ENSP00000502936.1:p.Glu337=
ENST00000677099.1:c.*1176A=	ENSP00000504553.1:n.*1176A=
ENST00000677216.1:c.1115A=	ENSP00000503772.1:p.Glu372=
ENST00000677221.1:n.491A=
ENST00000677295.1:c.*843A=	ENSP00000504346.1:n.*843A=
ENST00000677444.1:c.1411A=
ENST00000677586.1:n.947A=
ENST00000677626.1:c.1115A=	ENSP00000503552.1:p.Glu372=
ENST00000677677.1:n.1426A=
ENST00000677853.1:c.*474A=	ENSP00000503488.1:n.*474A=
ENST00000678202.1:n.625A=
ENST00000678264.1:c.*843A=	ENSP00000503157.1:n.*843A=
ENST00000678303.1:c.1376A=	ENSP00000503696.1:p.Glu459=
ENST00000678366.1:c.*1715A=	ENSP00000504353.1:n.*1715A=
ENST00000678546.1:c.*1411A=	ENSP00000503062.1:n.*1411A=
ENST00000678548.1:c.*1538A=	ENSP00000503934.1:n.*1538A=
ENST00000678626.1:n.1302A=
ENST00000678733.1:c.547A=
ENST00000678739.1:c.*1792A=	ENSP00000503806.1:n.*1792A=
ENST00000678833.1:c.*913A=	ENSP00000503893.1:n.*913A=
ENST00000679023.1:c.1304A=	ENSP00000503718.1:p.Glu435=
ENST00000679076.1:c.1085A=
ENST00000679111.1:c.*222A=	ENSP00000504257.1:n.*222A=
ENST00000679189.1:c.1115A=	ENSP00000503356.1:p.Glu372=
ENST00000341012.11:c.1304A=	ENSP00000343034.7:p.Glu435=
ENST00000372220.4:c.329A=	ENSP00000361294.4:p.Glu110=
ENST00000372228.7:c.1532A=	ENSP00000361302.3:p.Glu511=
ENST00000402686.7:c.1466A=	ENSP00000385797.3:p.Glu489=
ENST00000404875.6:c.1115A=	ENSP00000384531.2:p.Glu372=
ENST00000423007.5:c.1466A=	ENSP00000404119.1:p.Glu489=
ENST00000467848.1:n.170A=
ENST00000485278.5:n.2021A=
NM_001077365.1:c.1466A=	NP_001070833.1:p.Glu489=
NM_001077366.1:c.1304A=	NP_001070834.1:p.Glu435=
NM_001136113.1:c.1466A=	NP_001129585.1:p.Glu489=
NM_001136114.1:c.1115A=	NP_001129586.1:p.Glu372=
NM_007171.3:c.1532A=	NP_009102.3:p.Glu511=
XM_005272156.1:c.1532A=	XP_005272213.1:p.Glu511=
XM_005272158.1:c.1370A=	XP_005272215.1:p.Glu457=
XM_005272159.1:c.1181A=	XP_005272216.1:p.Glu394=
XM_005272162.1:c.335A=	XP_005272219.1:p.Glu112=
XM_006716932.1:c.1181A=	XP_006716995.1:p.Glu394=
XM_011518140.1:c.1385A=	XP_011516442.1:p.Glu462=
XM_011518141.1:c.1319A=	XP_011516443.1:p.Glu440=
XM_011518142.1:c.1223A=	XP_011516444.1:p.Glu408=
XM_011518143.1:c.1217A=	XP_011516445.1:p.Glu406=
XM_011518145.1:c.1076A=	XP_011516447.1:p.Glu359=
XM_011518147.1:c.404A=	XP_011516449.1:p.Glu135=
XR_929703.1:n.1708A=
NM_001353193.1:c.1532A=	NP_001340122.1:p.Glu511=
NM_001353194.1:c.1304A=	NP_001340123.1:p.Glu435=
NM_001353195.1:c.1115A=	NP_001340124.1:p.Glu372=
NM_001353196.1:c.1376A=	NP_001340125.1:p.Glu459=
NM_001353197.1:c.1370A=	NP_001340126.1:p.Glu457=
NM_001353198.1:c.1370A=	NP_001340127.1:p.Glu457=
NM_001353199.1:c.1181A=	NP_001340128.1:p.Glu394=
NM_001353200.1:c.1010A=	NP_001340129.1:p.Glu337=
NR_148391.1:n.1516A=
NR_148392.1:n.1734A=
NR_148393.1:n.1655A=
NR_148394.1:n.1409A=
NR_148395.1:n.1807A=
NR_148396.1:n.1441A=
NR_148397.1:n.1566A=
NR_148398.1:n.1521A=
NR_148399.1:n.2047A=
NR_148400.1:n.1646A=
XM_005272162.3:c.335A=	XP_005272219.1:p.Glu112=
XM_006716932.2:c.1181A=	XP_006716995.1:p.Glu394=
XM_011518140.2:c.1385A=	XP_011516442.1:p.Glu462=
XM_011518141.2:c.1319A=	XP_011516443.1:p.Glu440=
XM_011518142.2:c.1223A=	XP_011516444.1:p.Glu408=
XM_011518143.2:c.1217A=	XP_011516445.1:p.Glu406=
XM_011518145.2:c.1076A=	XP_011516447.1:p.Glu359=
XM_017014205.2:c.335A=	XP_016869694.1:p.Glu112=
XM_024447380.1:c.335A=	XP_024303148.1:p.Glu112=
XM_024447381.1:c.641A=	XP_024303149.1:p.Glu214=
XM_024447382.1:c.335A=	XP_024303150.1:p.Glu112=
XR_001746160.2:n.1636A=
XR_001746162.2:n.1841A=
XR_001746164.1:n.1558A=
XR_001746166.2:n.1853A=
NM_001077365.2:c.1466A= MANE Select	NP_001070833.1:p.Glu489=
NM_001077366.2:c.1304A=	NP_001070834.1:p.Glu435=
NM_001136113.2:c.1466A=	NP_001129585.1:p.Glu489=
NM_001136114.2:c.1115A=	NP_001129586.1:p.Glu372=
NM_001353193.2:c.1532A=	NP_001340122.2:p.Glu511=
NM_001353194.2:c.1304A=	NP_001340123.1:p.Glu435=
NM_001353195.2:c.1115A=	NP_001340124.1:p.Glu372=
NM_001353196.2:c.1376A=	NP_001340125.1:p.Glu459=
NM_001353197.2:c.1370A=	NP_001340126.2:p.Glu457=
NM_001353198.2:c.1370A=	NP_001340127.2:p.Glu457=
NM_001353199.2:c.1181A=	NP_001340128.2:p.Glu394=
NM_001353200.2:c.1010A=	NP_001340129.1:p.Glu337=
NM_001374689.1:c.1454A=	NP_001361618.1:p.Glu485=
NM_001374690.1:c.1365+400A=	NP_001361619.1:n.1365+400A=
NM_001374691.1:c.1115A=	NP_001361620.1:p.Glu372=
NM_001374692.1:c.1115A=	NP_001361621.1:p.Glu372=
NM_001374693.1:c.1115A=	NP_001361622.1:p.Glu372=
NM_001374695.1:c.1076A=	NP_001361624.1:p.Glu359=
NM_007171.4:c.1532A=	NP_009102.4:p.Glu511=
NR_148391.2:n.1500A=
NR_148392.2:n.1718A=
NR_148393.2:n.1639A=
NR_148394.2:n.1393A=
NR_148395.2:n.1791A=
NR_148396.2:n.1425A=
NR_148397.2:n.1550A=
NR_148398.2:n.1505A=
NR_148399.2:n.2031A=
NR_148400.2:n.1630A=