Canonical Allele Identifier: CA1881760437

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523050G= , CM000671.2:g.131523050G=	GRCh38
NC_000009.11:g.134398437G= , CM000671.1:g.134398437G=	GRCh37
NC_000009.10:g.133388258G=	NCBI36
NG_008896.1:g.25149G=
NG_008896.2:g.25149G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1960G=	ENSP00000343034.7:p.Glu654=
ENST00000404875.7:n.2662G=
ENST00000423007.6:c.2179G=	ENSP00000404119.2:p.Glu727=
ENST00000677295.2:c.*2466G=	ENSP00000504346.2:n.*2466G=
ENST00000678264.2:c.*2305G=	ENSP00000503157.2:n.*2305G=
ENST00000682070.1:n.2432G=
ENST00000682639.1:c.119G=
ENST00000682813.1:n.2519G=
ENST00000683231.1:c.119G=
ENST00000683392.1:n.4714G=
ENST00000683712.1:n.2527G=
ENST00000683900.1:n.4022G=
ENST00000684062.1:n.2788G=
ENST00000684399.1:c.119G=
ENST00000684579.1:n.3968G=
ENST00000341012.12:c.1960G=	ENSP00000343034.7:p.Glu654=
ENST00000372220.5:c.991G=	ENSP00000361294.5:p.Glu331=
ENST00000372228.9:c.2188G=	ENSP00000361302.3:p.Glu730=
ENST00000402686.8:c.2122G= MANE Select	ENSP00000385797.4:p.Glu708=
ENST00000676640.1:c.2122G=	ENSP00000503281.1:p.Glu708=
ENST00000676803.1:c.1183G=	ENSP00000503093.1:p.Glu395=
ENST00000676835.1:c.*1337G=	ENSP00000502911.1:n.*1337G=
ENST00000677029.1:c.1666G=	ENSP00000502936.1:p.Glu556=
ENST00000677099.1:c.*1832G=	ENSP00000504553.1:n.*1832G=
ENST00000677216.1:c.1771G=	ENSP00000503772.1:p.Glu591=
ENST00000677295.1:c.*1344G=	ENSP00000504346.1:n.*1344G=
ENST00000677444.1:c.2067G=
ENST00000677586.1:n.1489G=
ENST00000677626.1:c.1771G=	ENSP00000503552.1:p.Glu591=
ENST00000677853.1:c.*1130G=	ENSP00000503488.1:n.*1130G=
ENST00000678264.1:c.*1499G=	ENSP00000503157.1:n.*1499G=
ENST00000678303.1:c.2032G=	ENSP00000503696.1:p.Glu678=
ENST00000678366.1:c.*2371G=	ENSP00000504353.1:n.*2371G=
ENST00000678546.1:c.*2067G=	ENSP00000503062.1:n.*2067G=
ENST00000678548.1:c.*2261G=	ENSP00000503934.1:n.*2261G=
ENST00000678626.1:n.1958G=
ENST00000678739.1:c.*2288G=	ENSP00000503806.1:n.*2288G=
ENST00000678833.1:c.*1874G=	ENSP00000503893.1:n.*1874G=
ENST00000679023.1:c.1960G=	ENSP00000503718.1:p.Glu654=
ENST00000679076.1:c.1741G=
ENST00000679111.1:c.*878G=	ENSP00000504257.1:n.*878G=
ENST00000679189.1:c.1771G=	ENSP00000503356.1:p.Glu591=
ENST00000341012.11:c.1960G=	ENSP00000343034.7:p.Glu654=
ENST00000372220.4:c.985G=	ENSP00000361294.4:p.Glu329=
ENST00000372228.7:c.2188G=	ENSP00000361302.3:p.Glu730=
ENST00000402686.7:c.2122G=	ENSP00000385797.3:p.Glu708=
ENST00000404875.6:c.1771G=	ENSP00000384531.2:p.Glu591=
ENST00000423007.5:c.2122G=	ENSP00000404119.1:p.Glu708=
ENST00000485278.5:n.2672G=
NM_001077365.1:c.2122G=	NP_001070833.1:p.Glu708=
NM_001077366.1:c.1960G=	NP_001070834.1:p.Glu654=
NM_001136113.1:c.2122G=	NP_001129585.1:p.Glu708=
NM_001136114.1:c.1771G=	NP_001129586.1:p.Glu591=
NM_007171.3:c.2188G=	NP_009102.3:p.Glu730=
XM_005272156.1:c.2188G=	XP_005272213.1:p.Glu730=
XM_005272158.1:c.2026G=	XP_005272215.1:p.Glu676=
XM_005272159.1:c.1837G=	XP_005272216.1:p.Glu613=
XM_005272162.1:c.991G=	XP_005272219.1:p.Glu331=
XM_006716932.1:c.1837G=	XP_006716995.1:p.Glu613=
XM_011518140.1:c.2041G=	XP_011516442.1:p.Glu681=
XM_011518141.1:c.1975G=	XP_011516443.1:p.Glu659=
XM_011518142.1:c.1879G=	XP_011516444.1:p.Glu627=
XM_011518143.1:c.1873G=	XP_011516445.1:p.Glu625=
XM_011518145.1:c.1732G=	XP_011516447.1:p.Glu578=
XM_011518147.1:c.1060G=	XP_011516449.1:p.Glu354=
XR_929703.1:n.2364G=
NM_001353193.1:c.2188G=	NP_001340122.1:p.Glu730=
NM_001353194.1:c.1960G=	NP_001340123.1:p.Glu654=
NM_001353195.1:c.1771G=	NP_001340124.1:p.Glu591=
NM_001353196.1:c.2032G=	NP_001340125.1:p.Glu678=
NM_001353197.1:c.2026G=	NP_001340126.1:p.Glu676=
NM_001353198.1:c.2026G=	NP_001340127.1:p.Glu676=
NM_001353199.1:c.1837G=	NP_001340128.1:p.Glu613=
NM_001353200.1:c.1666G=	NP_001340129.1:p.Glu556=
NR_148391.1:n.2172G=
NR_148392.1:n.2390G=
NR_148393.1:n.2311G=
NR_148394.1:n.2065G=
NR_148395.1:n.2463G=
NR_148396.1:n.2097G=
NR_148397.1:n.2222G=
NR_148398.1:n.2177G=
NR_148399.1:n.2703G=
NR_148400.1:n.2302G=
XM_005272162.3:c.991G=	XP_005272219.1:p.Glu331=
XM_006716932.2:c.1837G=	XP_006716995.1:p.Glu613=
XM_011518140.2:c.2041G=	XP_011516442.1:p.Glu681=
XM_011518141.2:c.1975G=	XP_011516443.1:p.Glu659=
XM_011518142.2:c.1879G=	XP_011516444.1:p.Glu627=
XM_011518143.2:c.1873G=	XP_011516445.1:p.Glu625=
XM_011518145.2:c.1732G=	XP_011516447.1:p.Glu578=
XM_017014205.2:c.991G=	XP_016869694.1:p.Glu331=
XM_024447380.1:c.991G=	XP_024303148.1:p.Glu331=
XM_024447381.1:c.1297G=	XP_024303149.1:p.Glu433=
XM_024447382.1:c.991G=	XP_024303150.1:p.Glu331=
XR_001746160.2:n.2292G=
XR_001746162.2:n.2497G=
XR_001746164.1:n.2214G=
XR_001746166.2:n.2509G=
NM_001077365.2:c.2122G= MANE Select	NP_001070833.1:p.Glu708=
NM_001077366.2:c.1960G=	NP_001070834.1:p.Glu654=
NM_001136113.2:c.2122G=	NP_001129585.1:p.Glu708=
NM_001136114.2:c.1771G=	NP_001129586.1:p.Glu591=
NM_001353193.2:c.2188G=	NP_001340122.2:p.Glu730=
NM_001353194.2:c.1960G=	NP_001340123.1:p.Glu654=
NM_001353195.2:c.1771G=	NP_001340124.1:p.Glu591=
NM_001353196.2:c.2032G=	NP_001340125.1:p.Glu678=
NM_001353197.2:c.2026G=	NP_001340126.2:p.Glu676=
NM_001353198.2:c.2026G=	NP_001340127.2:p.Glu676=
NM_001353199.2:c.1837G=	NP_001340128.2:p.Glu613=
NM_001353200.2:c.1666G=	NP_001340129.1:p.Glu556=
NM_001374689.1:c.2110G=	NP_001361618.1:p.Glu704=
NM_001374690.1:c.1903G=	NP_001361619.1:p.Glu635=
NM_001374691.1:c.1771G=	NP_001361620.1:p.Glu591=
NM_001374692.1:c.1771G=	NP_001361621.1:p.Glu591=
NM_001374693.1:c.1771G=	NP_001361622.1:p.Glu591=
NM_001374695.1:c.1732G=	NP_001361624.1:p.Glu578=
NM_007171.4:c.2188G=	NP_009102.4:p.Glu730=
NR_148391.2:n.2156G=
NR_148392.2:n.2374G=
NR_148393.2:n.2295G=
NR_148394.2:n.2049G=
NR_148395.2:n.2447G=
NR_148396.2:n.2081G=
NR_148397.2:n.2206G=
NR_148398.2:n.2161G=
NR_148399.2:n.2687G=
NR_148400.2:n.2286G=