Canonical Allele Identifier: CA467424201

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398415G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523028G>C , CM000671.2:g.131523028G>C	GRCh38
NC_000009.11:g.134398415G>C , CM000671.1:g.134398415G>C	GRCh37
NC_000009.10:g.133388236G>C	NCBI36
NG_008896.1:g.25127G>C
NG_008896.2:g.25127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1938G>C	ENSP00000343034.7:p.Gly646=
ENST00000404875.7:n.2640G>C
ENST00000423007.6:c.2157G>C	ENSP00000404119.2:p.Gly719=
ENST00000677295.2:c.*2444G>C	ENSP00000504346.2:n.*2444G>C
ENST00000678264.2:c.*2283G>C	ENSP00000503157.2:n.*2283G>C
ENST00000682070.1:n.2410G>C
ENST00000682639.1:c.97G>C
ENST00000682813.1:n.2497G>C
ENST00000683231.1:c.97G>C
ENST00000683392.1:n.4692G>C
ENST00000683712.1:n.2505G>C
ENST00000683900.1:n.4000G>C
ENST00000684062.1:n.2766G>C
ENST00000684399.1:c.97G>C
ENST00000684579.1:n.3946G>C
ENST00000341012.12:c.1938G>C	ENSP00000343034.7:p.Gly646=
ENST00000372220.5:c.969G>C	ENSP00000361294.5:p.Gly323=
ENST00000372228.9:c.2166G>C	ENSP00000361302.3:p.Gly722=
ENST00000402686.8:c.2100G>C MANE Select	ENSP00000385797.4:p.Gly700=
ENST00000676640.1:c.2100G>C	ENSP00000503281.1:p.Gly700=
ENST00000676803.1:c.1161G>C	ENSP00000503093.1:p.Gly387=
ENST00000676835.1:c.*1315G>C	ENSP00000502911.1:n.*1315G>C
ENST00000677029.1:c.1644G>C	ENSP00000502936.1:p.Gly548=
ENST00000677099.1:c.*1810G>C	ENSP00000504553.1:n.*1810G>C
ENST00000677216.1:c.1749G>C	ENSP00000503772.1:p.Gly583=
ENST00000677295.1:c.*1322G>C	ENSP00000504346.1:n.*1322G>C
ENST00000677444.1:c.2045G>C
ENST00000677586.1:n.1467G>C
ENST00000677626.1:c.1749G>C	ENSP00000503552.1:p.Gly583=
ENST00000677853.1:c.*1108G>C	ENSP00000503488.1:n.*1108G>C
ENST00000678264.1:c.*1477G>C	ENSP00000503157.1:n.*1477G>C
ENST00000678303.1:c.2010G>C	ENSP00000503696.1:p.Gly670=
ENST00000678366.1:c.*2349G>C	ENSP00000504353.1:n.*2349G>C
ENST00000678546.1:c.*2045G>C	ENSP00000503062.1:n.*2045G>C
ENST00000678548.1:c.*2239G>C	ENSP00000503934.1:n.*2239G>C
ENST00000678626.1:n.1936G>C
ENST00000678739.1:c.*2266G>C	ENSP00000503806.1:n.*2266G>C
ENST00000678833.1:c.*1852G>C	ENSP00000503893.1:n.*1852G>C
ENST00000679023.1:c.1938G>C	ENSP00000503718.1:p.Gly646=
ENST00000679076.1:c.1719G>C
ENST00000679111.1:c.*856G>C	ENSP00000504257.1:n.*856G>C
ENST00000679189.1:c.1749G>C	ENSP00000503356.1:p.Gly583=
ENST00000341012.11:c.1938G>C	ENSP00000343034.7:p.Gly646=
ENST00000372220.4:c.963G>C	ENSP00000361294.4:p.Gly321=
ENST00000372228.7:c.2166G>C	ENSP00000361302.3:p.Gly722=
ENST00000402686.7:c.2100G>C	ENSP00000385797.3:p.Gly700=
ENST00000404875.6:c.1749G>C	ENSP00000384531.2:p.Gly583=
ENST00000423007.5:c.2100G>C	ENSP00000404119.1:p.Gly700=
ENST00000485278.5:n.2650G>C
NM_001077365.1:c.2100G>C	NP_001070833.1:p.Gly700=
NM_001077366.1:c.1938G>C	NP_001070834.1:p.Gly646=
NM_001136113.1:c.2100G>C	NP_001129585.1:p.Gly700=
NM_001136114.1:c.1749G>C	NP_001129586.1:p.Gly583=
NM_007171.3:c.2166G>C	NP_009102.3:p.Gly722=
XM_005272156.1:c.2166G>C	XP_005272213.1:p.Gly722=
XM_005272158.1:c.2004G>C	XP_005272215.1:p.Gly668=
XM_005272159.1:c.1815G>C	XP_005272216.1:p.Gly605=
XM_005272162.1:c.969G>C	XP_005272219.1:p.Gly323=
XM_006716932.1:c.1815G>C	XP_006716995.1:p.Gly605=
XM_011518140.1:c.2019G>C	XP_011516442.1:p.Gly673=
XM_011518141.1:c.1953G>C	XP_011516443.1:p.Gly651=
XM_011518142.1:c.1857G>C	XP_011516444.1:p.Gly619=
XM_011518143.1:c.1851G>C	XP_011516445.1:p.Gly617=
XM_011518145.1:c.1710G>C	XP_011516447.1:p.Gly570=
XM_011518147.1:c.1038G>C	XP_011516449.1:p.Gly346=
XR_929703.1:n.2342G>C
NM_001353193.1:c.2166G>C	NP_001340122.1:p.Gly722=
NM_001353194.1:c.1938G>C	NP_001340123.1:p.Gly646=
NM_001353195.1:c.1749G>C	NP_001340124.1:p.Gly583=
NM_001353196.1:c.2010G>C	NP_001340125.1:p.Gly670=
NM_001353197.1:c.2004G>C	NP_001340126.1:p.Gly668=
NM_001353198.1:c.2004G>C	NP_001340127.1:p.Gly668=
NM_001353199.1:c.1815G>C	NP_001340128.1:p.Gly605=
NM_001353200.1:c.1644G>C	NP_001340129.1:p.Gly548=
NR_148391.1:n.2150G>C
NR_148392.1:n.2368G>C
NR_148393.1:n.2289G>C
NR_148394.1:n.2043G>C
NR_148395.1:n.2441G>C
NR_148396.1:n.2075G>C
NR_148397.1:n.2200G>C
NR_148398.1:n.2155G>C
NR_148399.1:n.2681G>C
NR_148400.1:n.2280G>C
XM_005272162.3:c.969G>C	XP_005272219.1:p.Gly323=
XM_006716932.2:c.1815G>C	XP_006716995.1:p.Gly605=
XM_011518140.2:c.2019G>C	XP_011516442.1:p.Gly673=
XM_011518141.2:c.1953G>C	XP_011516443.1:p.Gly651=
XM_011518142.2:c.1857G>C	XP_011516444.1:p.Gly619=
XM_011518143.2:c.1851G>C	XP_011516445.1:p.Gly617=
XM_011518145.2:c.1710G>C	XP_011516447.1:p.Gly570=
XM_017014205.2:c.969G>C	XP_016869694.1:p.Gly323=
XM_024447380.1:c.969G>C	XP_024303148.1:p.Gly323=
XM_024447381.1:c.1275G>C	XP_024303149.1:p.Gly425=
XM_024447382.1:c.969G>C	XP_024303150.1:p.Gly323=
XR_001746160.2:n.2270G>C
XR_001746162.2:n.2475G>C
XR_001746164.1:n.2192G>C
XR_001746166.2:n.2487G>C
NM_001077365.2:c.2100G>C MANE Select	NP_001070833.1:p.Gly700=
NM_001077366.2:c.1938G>C	NP_001070834.1:p.Gly646=
NM_001136113.2:c.2100G>C	NP_001129585.1:p.Gly700=
NM_001136114.2:c.1749G>C	NP_001129586.1:p.Gly583=
NM_001353193.2:c.2166G>C	NP_001340122.2:p.Gly722=
NM_001353194.2:c.1938G>C	NP_001340123.1:p.Gly646=
NM_001353195.2:c.1749G>C	NP_001340124.1:p.Gly583=
NM_001353196.2:c.2010G>C	NP_001340125.1:p.Gly670=
NM_001353197.2:c.2004G>C	NP_001340126.2:p.Gly668=
NM_001353198.2:c.2004G>C	NP_001340127.2:p.Gly668=
NM_001353199.2:c.1815G>C	NP_001340128.2:p.Gly605=
NM_001353200.2:c.1644G>C	NP_001340129.1:p.Gly548=
NM_001374689.1:c.2088G>C	NP_001361618.1:p.Gly696=
NM_001374690.1:c.1881G>C	NP_001361619.1:p.Gly627=
NM_001374691.1:c.1749G>C	NP_001361620.1:p.Gly583=
NM_001374692.1:c.1749G>C	NP_001361621.1:p.Gly583=
NM_001374693.1:c.1749G>C	NP_001361622.1:p.Gly583=
NM_001374695.1:c.1710G>C	NP_001361624.1:p.Gly570=
NM_007171.4:c.2166G>C	NP_009102.4:p.Gly722=
NR_148391.2:n.2134G>C
NR_148392.2:n.2352G>C
NR_148393.2:n.2273G>C
NR_148394.2:n.2027G>C
NR_148395.2:n.2425G>C
NR_148396.2:n.2059G>C
NR_148397.2:n.2184G>C
NR_148398.2:n.2139G>C
NR_148399.2:n.2665G>C
NR_148400.2:n.2264G>C