Canonical Allele Identifier: CA375308916

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131512116G>A , CM000671.2:g.131512116G>A	GRCh38
NC_000009.11:g.134387503G>A , CM000671.1:g.134387503G>A	GRCh37
NC_000009.10:g.133377324G>A	NCBI36
NG_008896.1:g.14215G>A
NG_008896.2:g.14215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1062G>A MANE Select	NP_001070833.1:p.Trp354Ter
ENST00000402686.8:c.1062G>A MANE Select	ENSP00000385797.4:p.Trp354Ter
NM_001077365.1:c.1062G>A	NP_001070833.1:p.Trp354Ter
NM_001077366.1:c.900G>A	NP_001070834.1:p.Trp300Ter
NM_001077366.2:c.900G>A	NP_001070834.1:p.Trp300Ter
NM_001136113.1:c.1062G>A	NP_001129585.1:p.Trp354Ter
NM_001136113.2:c.1062G>A	NP_001129585.1:p.Trp354Ter
NM_001136114.1:c.711G>A	NP_001129586.1:p.Trp237Ter
NM_001136114.2:c.711G>A	NP_001129586.1:p.Trp237Ter
NM_001353193.1:c.1128G>A	NP_001340122.1:p.Trp376Ter
NM_001353193.2:c.1128G>A	NP_001340122.2:p.Trp376Ter
NM_001353194.1:c.900G>A	NP_001340123.1:p.Trp300Ter
NM_001353194.2:c.900G>A	NP_001340123.1:p.Trp300Ter
NM_001353195.1:c.711G>A	NP_001340124.1:p.Trp237Ter
NM_001353195.2:c.711G>A	NP_001340124.1:p.Trp237Ter
NM_001353196.1:c.972G>A	NP_001340125.1:p.Trp324Ter
NM_001353196.2:c.972G>A	NP_001340125.1:p.Trp324Ter
NM_001353197.1:c.966G>A	NP_001340126.1:p.Trp322Ter
NM_001353197.2:c.966G>A	NP_001340126.2:p.Trp322Ter
NM_001353198.1:c.966G>A	NP_001340127.1:p.Trp322Ter
NM_001353198.2:c.966G>A	NP_001340127.2:p.Trp322Ter
NM_001353199.1:c.777G>A	NP_001340128.1:p.Trp259Ter
NM_001353199.2:c.777G>A	NP_001340128.2:p.Trp259Ter
NM_001353200.1:c.606G>A	NP_001340129.1:p.Trp202Ter
NM_001353200.2:c.606G>A	NP_001340129.1:p.Trp202Ter
NM_001374689.1:c.1050G>A	NP_001361618.1:p.Trp350Ter
NM_001374690.1:c.1062G>A	NP_001361619.1:p.Trp354Ter
NM_001374691.1:c.711G>A	NP_001361620.1:p.Trp237Ter
NM_001374692.1:c.711G>A	NP_001361621.1:p.Trp237Ter
NM_001374693.1:c.824+649G>A	NP_001361622.1:n.824+649G>A
NM_001374695.1:c.672G>A	NP_001361624.1:p.Trp224Ter
NM_007171.3:c.1128G>A	NP_009102.3:p.Trp376Ter
NM_007171.4:c.1128G>A	NP_009102.4:p.Trp376Ter
NR_148391.1:n.1112G>A
NR_148391.2:n.1096G>A
NR_148392.1:n.1330G>A
NR_148392.2:n.1314G>A
NR_148393.1:n.1112G>A
NR_148393.2:n.1096G>A
NR_148394.1:n.1005G>A
NR_148394.2:n.989G>A
NR_148395.1:n.1264G>A
NR_148395.2:n.1248G>A
NR_148396.1:n.898G>A
NR_148396.2:n.882G>A
NR_148397.1:n.1162G>A
NR_148397.2:n.1146G>A
NR_148398.1:n.1117G>A
NR_148398.2:n.1101G>A
NR_148399.1:n.1504G>A
NR_148399.2:n.1488G>A
NR_148400.1:n.1103G>A
NR_148400.2:n.1087G>A
ENST00000341012.11:c.900G>A	ENSP00000343034.7:p.Trp300Ter
ENST00000341012.12:c.900G>A	ENSP00000343034.7:p.Trp300Ter
ENST00000341012.13:c.900G>A	ENSP00000343034.7:p.Trp300Ter
ENST00000372220.5:c.-70G>A	ENSP00000361294.5:n.-70G>A
ENST00000372228.7:c.1128G>A	ENSP00000361302.3:p.Trp376Ter
ENST00000372228.9:c.1128G>A	ENSP00000361302.3:p.Trp376Ter
ENST00000402686.7:c.1062G>A	ENSP00000385797.3:p.Trp354Ter
ENST00000404875.6:c.711G>A	ENSP00000384531.2:p.Trp237Ter
ENST00000404875.7:n.1602G>A
ENST00000415075.5:c.459G>A	ENSP00000405149.1:p.Trp153Ter
ENST00000415075.6:c.*520G>A	ENSP00000405149.2:n.*520G>A
ENST00000423007.5:c.1062G>A	ENSP00000404119.1:p.Trp354Ter
ENST00000423007.6:c.1119G>A	ENSP00000404119.2:p.Trp373Ter
ENST00000441334.5:c.777G>A	ENSP00000395060.1:p.Trp259Ter
ENST00000462375.5:n.888G>A
ENST00000485278.5:n.1617G>A
ENST00000676640.1:c.1062G>A	ENSP00000503281.1:p.Trp354Ter
ENST00000676803.1:c.237G>A	ENSP00000503093.1:p.Trp79Ter
ENST00000676835.1:c.*277G>A	ENSP00000502911.1:n.*277G>A
ENST00000677029.1:c.606G>A	ENSP00000502936.1:p.Trp202Ter
ENST00000677099.1:c.*772G>A	ENSP00000504553.1:n.*772G>A
ENST00000677216.1:c.711G>A	ENSP00000503772.1:p.Trp237Ter
ENST00000677293.1:c.237G>A	ENSP00000504278.1:p.Trp79Ter
ENST00000677295.1:c.*439G>A	ENSP00000504346.1:n.*439G>A
ENST00000677295.2:c.*1406G>A	ENSP00000504346.2:n.*1406G>A
ENST00000677444.1:c.868G>A
ENST00000677586.1:n.543G>A
ENST00000677626.1:c.824+649G>A	ENSP00000503552.1:n.824+649G>A
ENST00000677677.1:n.1022G>A
ENST00000677853.1:c.*70G>A	ENSP00000503488.1:n.*70G>A
ENST00000677944.1:c.324G>A
ENST00000678264.1:c.*439G>A	ENSP00000503157.1:n.*439G>A
ENST00000678264.2:c.*1245G>A	ENSP00000503157.2:n.*1245G>A
ENST00000678303.1:c.972G>A	ENSP00000503696.1:p.Trp324Ter
ENST00000678366.1:c.*1311G>A	ENSP00000504353.1:n.*1311G>A
ENST00000678546.1:c.*1007G>A	ENSP00000503062.1:n.*1007G>A
ENST00000678548.1:c.*1134G>A	ENSP00000503934.1:n.*1134G>A
ENST00000678626.1:n.759G>A
ENST00000678733.1:c.236G>A
ENST00000678739.1:c.*1388G>A	ENSP00000503806.1:n.*1388G>A
ENST00000678795.1:n.149G>A
ENST00000678833.1:c.*509G>A	ENSP00000503893.1:n.*509G>A
ENST00000678942.1:c.242G>A	ENSP00000504690.1:n.242G>A
ENST00000678942.2:c.*615G>A	ENSP00000504690.2:n.*615G>A
ENST00000679023.1:c.900G>A	ENSP00000503718.1:p.Trp300Ter
ENST00000679073.1:c.440G>A	ENSP00000504356.1:n.440G>A
ENST00000679076.1:c.681G>A
ENST00000679111.1:c.1062G>A	ENSP00000504257.1:p.Trp354Ter
ENST00000679189.1:c.711G>A	ENSP00000503356.1:p.Trp237Ter
ENST00000682070.1:n.1527G>A
ENST00000682813.1:n.1327G>A
ENST00000683392.1:n.3809G>A
ENST00000683712.1:n.1467G>A
ENST00000683900.1:n.2962G>A
ENST00000684062.1:n.1728G>A
ENST00000684579.1:n.2908G>A
XM_005272156.1:c.1128G>A	XP_005272213.1:p.Trp376Ter
XM_005272158.1:c.966G>A	XP_005272215.1:p.Trp322Ter
XM_005272159.1:c.777G>A	XP_005272216.1:p.Trp259Ter
XM_005272162.1:c.-70G>A	XP_005272219.1:n.-70G>A
XM_005272162.3:c.-70G>A	XP_005272219.1:n.-70G>A
XM_006716932.1:c.777G>A	XP_006716995.1:p.Trp259Ter
XM_006716932.2:c.777G>A	XP_006716995.1:p.Trp259Ter
XM_011518140.1:c.981G>A	XP_011516442.1:p.Trp327Ter
XM_011518140.2:c.981G>A	XP_011516442.1:p.Trp327Ter
XM_011518141.1:c.915G>A	XP_011516443.1:p.Trp305Ter
XM_011518141.2:c.915G>A	XP_011516443.1:p.Trp305Ter
XM_011518142.1:c.819G>A	XP_011516444.1:p.Trp273Ter
XM_011518142.2:c.819G>A	XP_011516444.1:p.Trp273Ter
XM_011518143.1:c.813G>A	XP_011516445.1:p.Trp271Ter
XM_011518143.2:c.813G>A	XP_011516445.1:p.Trp271Ter
XM_011518144.1:c.1128G>A	XP_011516446.1:p.Trp376Ter
XM_011518145.1:c.672G>A	XP_011516447.1:p.Trp224Ter
XM_011518145.2:c.672G>A	XP_011516447.1:p.Trp224Ter
XM_011518146.1:c.813G>A	XP_011516448.1:p.Trp271Ter
XM_017014205.2:c.-70G>A	XP_016869694.1:n.-70G>A
XM_024447380.1:c.-70G>A	XP_024303148.1:n.-70G>A
XM_024447381.1:c.237G>A	XP_024303149.1:p.Trp79Ter
XM_024447382.1:c.-70G>A	XP_024303150.1:n.-70G>A
XR_001746160.2:n.1232G>A
XR_001746162.2:n.1298G>A
XR_001746164.1:n.1015G>A
XR_001746166.2:n.1449G>A
XR_929703.1:n.1304G>A