Canonical Allele Identifier: CA5293500

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131512054C>T , CM000671.2:g.131512054C>T	GRCh38
NC_000009.11:g.134387441C>T , CM000671.1:g.134387441C>T	GRCh37
NC_000009.10:g.133377262C>T	NCBI36
NG_008896.1:g.14153C>T
NG_008896.2:g.14153C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1000C>T MANE Select	NP_001070833.1:p.Arg334Ter
ENST00000402686.8:c.1000C>T MANE Select	ENSP00000385797.4:p.Arg334Ter
NM_001077365.1:c.1000C>T	NP_001070833.1:p.Arg334Ter
NM_001077366.1:c.838C>T	NP_001070834.1:p.Arg280Ter
NM_001077366.2:c.838C>T	NP_001070834.1:p.Arg280Ter
NM_001136113.1:c.1000C>T	NP_001129585.1:p.Arg334Ter
NM_001136113.2:c.1000C>T	NP_001129585.1:p.Arg334Ter
NM_001136114.1:c.649C>T	NP_001129586.1:p.Arg217Ter
NM_001136114.2:c.649C>T	NP_001129586.1:p.Arg217Ter
NM_001353193.1:c.1066C>T	NP_001340122.1:p.Arg356Ter
NM_001353193.2:c.1066C>T	NP_001340122.2:p.Arg356Ter
NM_001353194.1:c.838C>T	NP_001340123.1:p.Arg280Ter
NM_001353194.2:c.838C>T	NP_001340123.1:p.Arg280Ter
NM_001353195.1:c.649C>T	NP_001340124.1:p.Arg217Ter
NM_001353195.2:c.649C>T	NP_001340124.1:p.Arg217Ter
NM_001353196.1:c.910C>T	NP_001340125.1:p.Arg304Ter
NM_001353196.2:c.910C>T	NP_001340125.1:p.Arg304Ter
NM_001353197.1:c.904C>T	NP_001340126.1:p.Arg302Ter
NM_001353197.2:c.904C>T	NP_001340126.2:p.Arg302Ter
NM_001353198.1:c.904C>T	NP_001340127.1:p.Arg302Ter
NM_001353198.2:c.904C>T	NP_001340127.2:p.Arg302Ter
NM_001353199.1:c.715C>T	NP_001340128.1:p.Arg239Ter
NM_001353199.2:c.715C>T	NP_001340128.2:p.Arg239Ter
NM_001353200.1:c.544C>T	NP_001340129.1:p.Arg182Ter
NM_001353200.2:c.544C>T	NP_001340129.1:p.Arg182Ter
NM_001374689.1:c.988C>T	NP_001361618.1:p.Arg330Ter
NM_001374690.1:c.1000C>T	NP_001361619.1:p.Arg334Ter
NM_001374691.1:c.649C>T	NP_001361620.1:p.Arg217Ter
NM_001374692.1:c.649C>T	NP_001361621.1:p.Arg217Ter
NM_001374693.1:c.824+587C>T	NP_001361622.1:n.824+587C>T
NM_001374695.1:c.610C>T	NP_001361624.1:p.Arg204Ter
NM_007171.3:c.1066C>T	NP_009102.3:p.Arg356Ter
NM_007171.4:c.1066C>T	NP_009102.4:p.Arg356Ter
NR_148391.1:n.1050C>T
NR_148391.2:n.1034C>T
NR_148392.1:n.1268C>T
NR_148392.2:n.1252C>T
NR_148393.1:n.1050C>T
NR_148393.2:n.1034C>T
NR_148394.1:n.943C>T
NR_148394.2:n.927C>T
NR_148395.1:n.1202C>T
NR_148395.2:n.1186C>T
NR_148396.1:n.836C>T
NR_148396.2:n.820C>T
NR_148397.1:n.1100C>T
NR_148397.2:n.1084C>T
NR_148398.1:n.1055C>T
NR_148398.2:n.1039C>T
NR_148399.1:n.1442C>T
NR_148399.2:n.1426C>T
NR_148400.1:n.1041C>T
NR_148400.2:n.1025C>T
ENST00000341012.11:c.838C>T	ENSP00000343034.7:p.Arg280Ter
ENST00000341012.12:c.838C>T	ENSP00000343034.7:p.Arg280Ter
ENST00000341012.13:c.838C>T	ENSP00000343034.7:p.Arg280Ter
ENST00000372220.5:c.-132C>T	ENSP00000361294.5:n.-132C>T
ENST00000372228.7:c.1066C>T	ENSP00000361302.3:p.Arg356Ter
ENST00000372228.9:c.1066C>T	ENSP00000361302.3:p.Arg356Ter
ENST00000402686.7:c.1000C>T	ENSP00000385797.3:p.Arg334Ter
ENST00000404875.6:c.649C>T	ENSP00000384531.2:p.Arg217Ter
ENST00000404875.7:n.1540C>T
ENST00000415075.5:c.397C>T	ENSP00000405149.1:p.Arg133Ter
ENST00000415075.6:c.*458C>T	ENSP00000405149.2:n.*458C>T
ENST00000423007.5:c.1000C>T	ENSP00000404119.1:p.Arg334Ter
ENST00000423007.6:c.1057C>T	ENSP00000404119.2:p.Arg353Ter
ENST00000441334.5:c.715C>T	ENSP00000395060.1:p.Arg239Ter
ENST00000462375.5:n.826C>T
ENST00000485278.5:n.1555C>T
ENST00000676640.1:c.1000C>T	ENSP00000503281.1:p.Arg334Ter
ENST00000676803.1:c.175C>T	ENSP00000503093.1:p.Arg59Ter
ENST00000676835.1:c.*215C>T	ENSP00000502911.1:n.*215C>T
ENST00000677029.1:c.544C>T	ENSP00000502936.1:p.Arg182Ter
ENST00000677099.1:c.*710C>T	ENSP00000504553.1:n.*710C>T
ENST00000677216.1:c.649C>T	ENSP00000503772.1:p.Arg217Ter
ENST00000677293.1:c.175C>T	ENSP00000504278.1:p.Arg59Ter
ENST00000677295.1:c.*377C>T	ENSP00000504346.1:n.*377C>T
ENST00000677295.2:c.*1344C>T	ENSP00000504346.2:n.*1344C>T
ENST00000677444.1:c.806C>T
ENST00000677586.1:n.481C>T
ENST00000677626.1:c.824+587C>T	ENSP00000503552.1:n.824+587C>T
ENST00000677677.1:n.960C>T
ENST00000677853.1:c.*8C>T	ENSP00000503488.1:n.*8C>T
ENST00000677944.1:c.262C>T
ENST00000678264.1:c.*377C>T	ENSP00000503157.1:n.*377C>T
ENST00000678264.2:c.*1183C>T	ENSP00000503157.2:n.*1183C>T
ENST00000678303.1:c.910C>T	ENSP00000503696.1:p.Arg304Ter
ENST00000678366.1:c.*1249C>T	ENSP00000504353.1:n.*1249C>T
ENST00000678546.1:c.*945C>T	ENSP00000503062.1:n.*945C>T
ENST00000678548.1:c.*1072C>T	ENSP00000503934.1:n.*1072C>T
ENST00000678626.1:n.697C>T
ENST00000678733.1:c.174C>T
ENST00000678739.1:c.*1326C>T	ENSP00000503806.1:n.*1326C>T
ENST00000678795.1:n.87C>T
ENST00000678833.1:c.*447C>T	ENSP00000503893.1:n.*447C>T
ENST00000678942.1:c.180C>T	ENSP00000504690.1:n.180C>T
ENST00000678942.2:c.*553C>T	ENSP00000504690.2:n.*553C>T
ENST00000679023.1:c.838C>T	ENSP00000503718.1:p.Arg280Ter
ENST00000679073.1:c.378C>T	ENSP00000504356.1:n.378C>T
ENST00000679076.1:c.619C>T
ENST00000679111.1:c.1000C>T	ENSP00000504257.1:p.Arg334Ter
ENST00000679189.1:c.649C>T	ENSP00000503356.1:p.Arg217Ter
ENST00000682070.1:n.1465C>T
ENST00000682813.1:n.1265C>T
ENST00000683392.1:n.3747C>T
ENST00000683712.1:n.1405C>T
ENST00000683900.1:n.2900C>T
ENST00000684062.1:n.1666C>T
ENST00000684579.1:n.2846C>T
XM_005272156.1:c.1066C>T	XP_005272213.1:p.Arg356Ter
XM_005272158.1:c.904C>T	XP_005272215.1:p.Arg302Ter
XM_005272159.1:c.715C>T	XP_005272216.1:p.Arg239Ter
XM_005272162.1:c.-132C>T	XP_005272219.1:n.-132C>T
XM_005272162.3:c.-132C>T	XP_005272219.1:n.-132C>T
XM_006716932.1:c.715C>T	XP_006716995.1:p.Arg239Ter
XM_006716932.2:c.715C>T	XP_006716995.1:p.Arg239Ter
XM_011518140.1:c.919C>T	XP_011516442.1:p.Arg307Ter
XM_011518140.2:c.919C>T	XP_011516442.1:p.Arg307Ter
XM_011518141.1:c.853C>T	XP_011516443.1:p.Arg285Ter
XM_011518141.2:c.853C>T	XP_011516443.1:p.Arg285Ter
XM_011518142.1:c.757C>T	XP_011516444.1:p.Arg253Ter
XM_011518142.2:c.757C>T	XP_011516444.1:p.Arg253Ter
XM_011518143.1:c.751C>T	XP_011516445.1:p.Arg251Ter
XM_011518143.2:c.751C>T	XP_011516445.1:p.Arg251Ter
XM_011518144.1:c.1066C>T	XP_011516446.1:p.Arg356Ter
XM_011518145.1:c.610C>T	XP_011516447.1:p.Arg204Ter
XM_011518145.2:c.610C>T	XP_011516447.1:p.Arg204Ter
XM_011518146.1:c.751C>T	XP_011516448.1:p.Arg251Ter
XM_017014205.2:c.-132C>T	XP_016869694.1:n.-132C>T
XM_024447380.1:c.-132C>T	XP_024303148.1:n.-132C>T
XM_024447381.1:c.175C>T	XP_024303149.1:p.Arg59Ter
XM_024447382.1:c.-132C>T	XP_024303150.1:n.-132C>T
XR_001746160.2:n.1170C>T
XR_001746162.2:n.1236C>T
XR_001746164.1:n.953C>T
XR_001746166.2:n.1387C>T
XR_929703.1:n.1242C>T