Canonical Allele Identifier: CA5293502

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131512069C>T , CM000671.2:g.131512069C>T	GRCh38
NC_000009.11:g.134387456C>T , CM000671.1:g.134387456C>T	GRCh37
NC_000009.10:g.133377277C>T	NCBI36
NG_008896.1:g.14168C>T
NG_008896.2:g.14168C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1015C>T MANE Select	NP_001070833.1:p.Gln339Ter
ENST00000402686.8:c.1015C>T MANE Select	ENSP00000385797.4:p.Gln339Ter
NM_001077365.1:c.1015C>T	NP_001070833.1:p.Gln339Ter
NM_001077366.1:c.853C>T	NP_001070834.1:p.Gln285Ter
NM_001077366.2:c.853C>T	NP_001070834.1:p.Gln285Ter
NM_001136113.1:c.1015C>T	NP_001129585.1:p.Gln339Ter
NM_001136113.2:c.1015C>T	NP_001129585.1:p.Gln339Ter
NM_001136114.1:c.664C>T	NP_001129586.1:p.Gln222Ter
NM_001136114.2:c.664C>T	NP_001129586.1:p.Gln222Ter
NM_001353193.1:c.1081C>T	NP_001340122.1:p.Gln361Ter
NM_001353193.2:c.1081C>T	NP_001340122.2:p.Gln361Ter
NM_001353194.1:c.853C>T	NP_001340123.1:p.Gln285Ter
NM_001353194.2:c.853C>T	NP_001340123.1:p.Gln285Ter
NM_001353195.1:c.664C>T	NP_001340124.1:p.Gln222Ter
NM_001353195.2:c.664C>T	NP_001340124.1:p.Gln222Ter
NM_001353196.1:c.925C>T	NP_001340125.1:p.Gln309Ter
NM_001353196.2:c.925C>T	NP_001340125.1:p.Gln309Ter
NM_001353197.1:c.919C>T	NP_001340126.1:p.Gln307Ter
NM_001353197.2:c.919C>T	NP_001340126.2:p.Gln307Ter
NM_001353198.1:c.919C>T	NP_001340127.1:p.Gln307Ter
NM_001353198.2:c.919C>T	NP_001340127.2:p.Gln307Ter
NM_001353199.1:c.730C>T	NP_001340128.1:p.Gln244Ter
NM_001353199.2:c.730C>T	NP_001340128.2:p.Gln244Ter
NM_001353200.1:c.559C>T	NP_001340129.1:p.Gln187Ter
NM_001353200.2:c.559C>T	NP_001340129.1:p.Gln187Ter
NM_001374689.1:c.1003C>T	NP_001361618.1:p.Gln335Ter
NM_001374690.1:c.1015C>T	NP_001361619.1:p.Gln339Ter
NM_001374691.1:c.664C>T	NP_001361620.1:p.Gln222Ter
NM_001374692.1:c.664C>T	NP_001361621.1:p.Gln222Ter
NM_001374693.1:c.824+602C>T	NP_001361622.1:n.824+602C>T
NM_001374695.1:c.625C>T	NP_001361624.1:p.Gln209Ter
NM_007171.3:c.1081C>T	NP_009102.3:p.Gln361Ter
NM_007171.4:c.1081C>T	NP_009102.4:p.Gln361Ter
NR_148391.1:n.1065C>T
NR_148391.2:n.1049C>T
NR_148392.1:n.1283C>T
NR_148392.2:n.1267C>T
NR_148393.1:n.1065C>T
NR_148393.2:n.1049C>T
NR_148394.1:n.958C>T
NR_148394.2:n.942C>T
NR_148395.1:n.1217C>T
NR_148395.2:n.1201C>T
NR_148396.1:n.851C>T
NR_148396.2:n.835C>T
NR_148397.1:n.1115C>T
NR_148397.2:n.1099C>T
NR_148398.1:n.1070C>T
NR_148398.2:n.1054C>T
NR_148399.1:n.1457C>T
NR_148399.2:n.1441C>T
NR_148400.1:n.1056C>T
NR_148400.2:n.1040C>T
ENST00000341012.11:c.853C>T	ENSP00000343034.7:p.Gln285Ter
ENST00000341012.12:c.853C>T	ENSP00000343034.7:p.Gln285Ter
ENST00000341012.13:c.853C>T	ENSP00000343034.7:p.Gln285Ter
ENST00000372220.5:c.-117C>T	ENSP00000361294.5:n.-117C>T
ENST00000372228.7:c.1081C>T	ENSP00000361302.3:p.Gln361Ter
ENST00000372228.9:c.1081C>T	ENSP00000361302.3:p.Gln361Ter
ENST00000402686.7:c.1015C>T	ENSP00000385797.3:p.Gln339Ter
ENST00000404875.6:c.664C>T	ENSP00000384531.2:p.Gln222Ter
ENST00000404875.7:n.1555C>T
ENST00000415075.5:c.412C>T	ENSP00000405149.1:p.Gln138Ter
ENST00000415075.6:c.*473C>T	ENSP00000405149.2:n.*473C>T
ENST00000423007.5:c.1015C>T	ENSP00000404119.1:p.Gln339Ter
ENST00000423007.6:c.1072C>T	ENSP00000404119.2:p.Gln358Ter
ENST00000441334.5:c.730C>T	ENSP00000395060.1:p.Gln244Ter
ENST00000462375.5:n.841C>T
ENST00000485278.5:n.1570C>T
ENST00000676640.1:c.1015C>T	ENSP00000503281.1:p.Gln339Ter
ENST00000676803.1:c.190C>T	ENSP00000503093.1:p.Gln64Ter
ENST00000676835.1:c.*230C>T	ENSP00000502911.1:n.*230C>T
ENST00000677029.1:c.559C>T	ENSP00000502936.1:p.Gln187Ter
ENST00000677099.1:c.*725C>T	ENSP00000504553.1:n.*725C>T
ENST00000677216.1:c.664C>T	ENSP00000503772.1:p.Gln222Ter
ENST00000677293.1:c.190C>T	ENSP00000504278.1:p.Gln64Ter
ENST00000677295.1:c.*392C>T	ENSP00000504346.1:n.*392C>T
ENST00000677295.2:c.*1359C>T	ENSP00000504346.2:n.*1359C>T
ENST00000677444.1:c.821C>T
ENST00000677586.1:n.496C>T
ENST00000677626.1:c.824+602C>T	ENSP00000503552.1:n.824+602C>T
ENST00000677677.1:n.975C>T
ENST00000677853.1:c.*23C>T	ENSP00000503488.1:n.*23C>T
ENST00000677944.1:c.277C>T
ENST00000678264.1:c.*392C>T	ENSP00000503157.1:n.*392C>T
ENST00000678264.2:c.*1198C>T	ENSP00000503157.2:n.*1198C>T
ENST00000678303.1:c.925C>T	ENSP00000503696.1:p.Gln309Ter
ENST00000678366.1:c.*1264C>T	ENSP00000504353.1:n.*1264C>T
ENST00000678546.1:c.*960C>T	ENSP00000503062.1:n.*960C>T
ENST00000678548.1:c.*1087C>T	ENSP00000503934.1:n.*1087C>T
ENST00000678626.1:n.712C>T
ENST00000678733.1:c.189C>T
ENST00000678739.1:c.*1341C>T	ENSP00000503806.1:n.*1341C>T
ENST00000678795.1:n.102C>T
ENST00000678833.1:c.*462C>T	ENSP00000503893.1:n.*462C>T
ENST00000678942.1:c.195C>T	ENSP00000504690.1:n.195C>T
ENST00000678942.2:c.*568C>T	ENSP00000504690.2:n.*568C>T
ENST00000679023.1:c.853C>T	ENSP00000503718.1:p.Gln285Ter
ENST00000679073.1:c.393C>T	ENSP00000504356.1:n.393C>T
ENST00000679076.1:c.634C>T
ENST00000679111.1:c.1015C>T	ENSP00000504257.1:p.Gln339Ter
ENST00000679189.1:c.664C>T	ENSP00000503356.1:p.Gln222Ter
ENST00000682070.1:n.1480C>T
ENST00000682813.1:n.1280C>T
ENST00000683392.1:n.3762C>T
ENST00000683712.1:n.1420C>T
ENST00000683900.1:n.2915C>T
ENST00000684062.1:n.1681C>T
ENST00000684579.1:n.2861C>T
XM_005272156.1:c.1081C>T	XP_005272213.1:p.Gln361Ter
XM_005272158.1:c.919C>T	XP_005272215.1:p.Gln307Ter
XM_005272159.1:c.730C>T	XP_005272216.1:p.Gln244Ter
XM_005272162.1:c.-117C>T	XP_005272219.1:n.-117C>T
XM_005272162.3:c.-117C>T	XP_005272219.1:n.-117C>T
XM_006716932.1:c.730C>T	XP_006716995.1:p.Gln244Ter
XM_006716932.2:c.730C>T	XP_006716995.1:p.Gln244Ter
XM_011518140.1:c.934C>T	XP_011516442.1:p.Gln312Ter
XM_011518140.2:c.934C>T	XP_011516442.1:p.Gln312Ter
XM_011518141.1:c.868C>T	XP_011516443.1:p.Gln290Ter
XM_011518141.2:c.868C>T	XP_011516443.1:p.Gln290Ter
XM_011518142.1:c.772C>T	XP_011516444.1:p.Gln258Ter
XM_011518142.2:c.772C>T	XP_011516444.1:p.Gln258Ter
XM_011518143.1:c.766C>T	XP_011516445.1:p.Gln256Ter
XM_011518143.2:c.766C>T	XP_011516445.1:p.Gln256Ter
XM_011518144.1:c.1081C>T	XP_011516446.1:p.Gln361Ter
XM_011518145.1:c.625C>T	XP_011516447.1:p.Gln209Ter
XM_011518145.2:c.625C>T	XP_011516447.1:p.Gln209Ter
XM_011518146.1:c.766C>T	XP_011516448.1:p.Gln256Ter
XM_017014205.2:c.-117C>T	XP_016869694.1:n.-117C>T
XM_024447380.1:c.-117C>T	XP_024303148.1:n.-117C>T
XM_024447381.1:c.190C>T	XP_024303149.1:p.Gln64Ter
XM_024447382.1:c.-117C>T	XP_024303150.1:n.-117C>T
XR_001746160.2:n.1185C>T
XR_001746162.2:n.1251C>T
XR_001746164.1:n.968C>T
XR_001746166.2:n.1402C>T
XR_929703.1:n.1257C>T