Canonical Allele Identifier: CA1881760523

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523072A= , CM000671.2:g.131523072A=	GRCh38
NC_000009.11:g.134398459A= , CM000671.1:g.134398459A=	GRCh37
NC_000009.10:g.133388280A=	NCBI36
NG_008896.1:g.25171A=
NG_008896.2:g.25171A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1982A=	ENSP00000343034.7:p.Lys661=
ENST00000404875.7:n.2684A=
ENST00000423007.6:c.2201A=	ENSP00000404119.2:p.Lys734=
ENST00000677295.2:c.*2488A=	ENSP00000504346.2:n.*2488A=
ENST00000678264.2:c.*2327A=	ENSP00000503157.2:n.*2327A=
ENST00000682070.1:n.2454A=
ENST00000682639.1:c.141A=
ENST00000682813.1:n.2541A=
ENST00000683231.1:c.141A=
ENST00000683392.1:n.4736A=
ENST00000683712.1:n.2549A=
ENST00000683900.1:n.4044A=
ENST00000684062.1:n.2810A=
ENST00000684399.1:c.141A=
ENST00000684579.1:n.3990A=
ENST00000341012.12:c.1982A=	ENSP00000343034.7:p.Lys661=
ENST00000372220.5:c.1013A=	ENSP00000361294.5:p.Lys338=
ENST00000372228.9:c.2210A=	ENSP00000361302.3:p.Lys737=
ENST00000402686.8:c.2144A= MANE Select	ENSP00000385797.4:p.Lys715=
ENST00000676640.1:c.2144A=	ENSP00000503281.1:p.Lys715=
ENST00000676803.1:c.1205A=	ENSP00000503093.1:p.Lys402=
ENST00000676835.1:c.*1359A=	ENSP00000502911.1:n.*1359A=
ENST00000677029.1:c.1688A=	ENSP00000502936.1:p.Lys563=
ENST00000677099.1:c.*1854A=	ENSP00000504553.1:n.*1854A=
ENST00000677216.1:c.1793A=	ENSP00000503772.1:p.Lys598=
ENST00000677295.1:c.*1366A=	ENSP00000504346.1:n.*1366A=
ENST00000677444.1:c.2089A=
ENST00000677586.1:n.1511A=
ENST00000677626.1:c.1793A=	ENSP00000503552.1:p.Lys598=
ENST00000677853.1:c.*1152A=	ENSP00000503488.1:n.*1152A=
ENST00000678264.1:c.*1521A=	ENSP00000503157.1:n.*1521A=
ENST00000678303.1:c.2054A=	ENSP00000503696.1:p.Lys685=
ENST00000678366.1:c.*2393A=	ENSP00000504353.1:n.*2393A=
ENST00000678546.1:c.*2089A=	ENSP00000503062.1:n.*2089A=
ENST00000678548.1:c.*2283A=	ENSP00000503934.1:n.*2283A=
ENST00000678626.1:n.1980A=
ENST00000678739.1:c.*2310A=	ENSP00000503806.1:n.*2310A=
ENST00000678833.1:c.*1896A=	ENSP00000503893.1:n.*1896A=
ENST00000679023.1:c.1982A=	ENSP00000503718.1:p.Lys661=
ENST00000679076.1:c.1763A=
ENST00000679111.1:c.*900A=	ENSP00000504257.1:n.*900A=
ENST00000679189.1:c.1793A=	ENSP00000503356.1:p.Lys598=
ENST00000341012.11:c.1982A=	ENSP00000343034.7:p.Lys661=
ENST00000372220.4:c.1007A=	ENSP00000361294.4:p.Lys336=
ENST00000372228.7:c.2210A=	ENSP00000361302.3:p.Lys737=
ENST00000402686.7:c.2144A=	ENSP00000385797.3:p.Lys715=
ENST00000404875.6:c.1793A=	ENSP00000384531.2:p.Lys598=
ENST00000423007.5:c.2144A=	ENSP00000404119.1:p.Lys715=
ENST00000485278.5:n.2694A=
NM_001077365.1:c.2144A=	NP_001070833.1:p.Lys715=
NM_001077366.1:c.1982A=	NP_001070834.1:p.Lys661=
NM_001136113.1:c.2144A=	NP_001129585.1:p.Lys715=
NM_001136114.1:c.1793A=	NP_001129586.1:p.Lys598=
NM_007171.3:c.2210A=	NP_009102.3:p.Lys737=
XM_005272156.1:c.2210A=	XP_005272213.1:p.Lys737=
XM_005272158.1:c.2048A=	XP_005272215.1:p.Lys683=
XM_005272159.1:c.1859A=	XP_005272216.1:p.Lys620=
XM_005272162.1:c.1013A=	XP_005272219.1:p.Lys338=
XM_006716932.1:c.1859A=	XP_006716995.1:p.Lys620=
XM_011518140.1:c.2063A=	XP_011516442.1:p.Lys688=
XM_011518141.1:c.1997A=	XP_011516443.1:p.Lys666=
XM_011518142.1:c.1901A=	XP_011516444.1:p.Lys634=
XM_011518143.1:c.1895A=	XP_011516445.1:p.Lys632=
XM_011518145.1:c.1754A=	XP_011516447.1:p.Lys585=
XM_011518147.1:c.1082A=	XP_011516449.1:p.Lys361=
XR_929703.1:n.2386A=
NM_001353193.1:c.2210A=	NP_001340122.1:p.Lys737=
NM_001353194.1:c.1982A=	NP_001340123.1:p.Lys661=
NM_001353195.1:c.1793A=	NP_001340124.1:p.Lys598=
NM_001353196.1:c.2054A=	NP_001340125.1:p.Lys685=
NM_001353197.1:c.2048A=	NP_001340126.1:p.Lys683=
NM_001353198.1:c.2048A=	NP_001340127.1:p.Lys683=
NM_001353199.1:c.1859A=	NP_001340128.1:p.Lys620=
NM_001353200.1:c.1688A=	NP_001340129.1:p.Lys563=
NR_148391.1:n.2194A=
NR_148392.1:n.2412A=
NR_148393.1:n.2333A=
NR_148394.1:n.2087A=
NR_148395.1:n.2485A=
NR_148396.1:n.2119A=
NR_148397.1:n.2244A=
NR_148398.1:n.2199A=
NR_148399.1:n.2725A=
NR_148400.1:n.2324A=
XM_005272162.3:c.1013A=	XP_005272219.1:p.Lys338=
XM_006716932.2:c.1859A=	XP_006716995.1:p.Lys620=
XM_011518140.2:c.2063A=	XP_011516442.1:p.Lys688=
XM_011518141.2:c.1997A=	XP_011516443.1:p.Lys666=
XM_011518142.2:c.1901A=	XP_011516444.1:p.Lys634=
XM_011518143.2:c.1895A=	XP_011516445.1:p.Lys632=
XM_011518145.2:c.1754A=	XP_011516447.1:p.Lys585=
XM_017014205.2:c.1013A=	XP_016869694.1:p.Lys338=
XM_024447380.1:c.1013A=	XP_024303148.1:p.Lys338=
XM_024447381.1:c.1319A=	XP_024303149.1:p.Lys440=
XM_024447382.1:c.1013A=	XP_024303150.1:p.Lys338=
XR_001746160.2:n.2314A=
XR_001746162.2:n.2519A=
XR_001746164.1:n.2236A=
XR_001746166.2:n.2531A=
NM_001077365.2:c.2144A= MANE Select	NP_001070833.1:p.Lys715=
NM_001077366.2:c.1982A=	NP_001070834.1:p.Lys661=
NM_001136113.2:c.2144A=	NP_001129585.1:p.Lys715=
NM_001136114.2:c.1793A=	NP_001129586.1:p.Lys598=
NM_001353193.2:c.2210A=	NP_001340122.2:p.Lys737=
NM_001353194.2:c.1982A=	NP_001340123.1:p.Lys661=
NM_001353195.2:c.1793A=	NP_001340124.1:p.Lys598=
NM_001353196.2:c.2054A=	NP_001340125.1:p.Lys685=
NM_001353197.2:c.2048A=	NP_001340126.2:p.Lys683=
NM_001353198.2:c.2048A=	NP_001340127.2:p.Lys683=
NM_001353199.2:c.1859A=	NP_001340128.2:p.Lys620=
NM_001353200.2:c.1688A=	NP_001340129.1:p.Lys563=
NM_001374689.1:c.2132A=	NP_001361618.1:p.Lys711=
NM_001374690.1:c.1925A=	NP_001361619.1:p.Lys642=
NM_001374691.1:c.1793A=	NP_001361620.1:p.Lys598=
NM_001374692.1:c.1793A=	NP_001361621.1:p.Lys598=
NM_001374693.1:c.1793A=	NP_001361622.1:p.Lys598=
NM_001374695.1:c.1754A=	NP_001361624.1:p.Lys585=
NM_007171.4:c.2210A=	NP_009102.4:p.Lys737=
NR_148391.2:n.2178A=
NR_148392.2:n.2396A=
NR_148393.2:n.2317A=
NR_148394.2:n.2071A=
NR_148395.2:n.2469A=
NR_148396.2:n.2103A=
NR_148397.2:n.2228A=
NR_148398.2:n.2183A=
NR_148399.2:n.2709A=
NR_148400.2:n.2308A=