Canonical Allele Identifier: CA375314703

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397592A>T (hg19) ; chr9:g.131522205A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522205A>T , CM000671.2:g.131522205A>T	GRCh38
NC_000009.11:g.134397592A>T , CM000671.1:g.134397592A>T	GRCh37
NC_000009.10:g.133387413A>T	NCBI36
NG_008896.1:g.24304A>T
NG_008896.2:g.24304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1822A>T	ENSP00000343034.7:p.Ile608Phe
ENST00000404875.7:n.2524A>T
ENST00000423007.6:c.2041A>T	ENSP00000404119.2:p.Ile681Phe
ENST00000677295.2:c.*2328A>T	ENSP00000504346.2:n.*2328A>T
ENST00000678264.2:c.*2167A>T	ENSP00000503157.2:n.*2167A>T
ENST00000682070.1:n.2294A>T
ENST00000682813.1:n.2388A>T
ENST00000683392.1:n.4576A>T
ENST00000683712.1:n.2389A>T
ENST00000683900.1:n.3884A>T
ENST00000684062.1:n.2650A>T
ENST00000684579.1:n.3830A>T
ENST00000341012.12:c.1822A>T	ENSP00000343034.7:p.Ile608Phe
ENST00000372220.5:c.853A>T	ENSP00000361294.5:p.Ile285Phe
ENST00000372228.9:c.2050A>T	ENSP00000361302.3:p.Ile684Phe
ENST00000402686.8:c.1984A>T MANE Select	ENSP00000385797.4:p.Ile662Phe
ENST00000676640.1:c.1984A>T	ENSP00000503281.1:p.Ile662Phe
ENST00000676803.1:c.1045A>T	ENSP00000503093.1:p.Ile349Phe
ENST00000676835.1:c.*1199A>T	ENSP00000502911.1:n.*1199A>T
ENST00000677029.1:c.1528A>T	ENSP00000502936.1:p.Ile510Phe
ENST00000677099.1:c.*1694A>T	ENSP00000504553.1:n.*1694A>T
ENST00000677216.1:c.1633A>T	ENSP00000503772.1:p.Ile545Phe
ENST00000677221.1:n.1009A>T
ENST00000677295.1:c.*1206A>T	ENSP00000504346.1:n.*1206A>T
ENST00000677444.1:c.1929A>T
ENST00000677586.1:n.1351A>T
ENST00000677626.1:c.1633A>T	ENSP00000503552.1:p.Ile545Phe
ENST00000677853.1:c.*992A>T	ENSP00000503488.1:n.*992A>T
ENST00000678264.1:c.*1361A>T	ENSP00000503157.1:n.*1361A>T
ENST00000678303.1:c.1894A>T	ENSP00000503696.1:p.Ile632Phe
ENST00000678366.1:c.*2233A>T	ENSP00000504353.1:n.*2233A>T
ENST00000678546.1:c.*1929A>T	ENSP00000503062.1:n.*1929A>T
ENST00000678548.1:c.*2123A>T	ENSP00000503934.1:n.*2123A>T
ENST00000678626.1:n.1820A>T
ENST00000678739.1:c.*2150A>T	ENSP00000503806.1:n.*2150A>T
ENST00000678833.1:c.*1736A>T	ENSP00000503893.1:n.*1736A>T
ENST00000679023.1:c.1822A>T	ENSP00000503718.1:p.Ile608Phe
ENST00000679076.1:c.1603A>T
ENST00000679111.1:c.*740A>T	ENSP00000504257.1:n.*740A>T
ENST00000679189.1:c.1633A>T	ENSP00000503356.1:p.Ile545Phe
ENST00000341012.11:c.1822A>T	ENSP00000343034.7:p.Ile608Phe
ENST00000372220.4:c.847A>T	ENSP00000361294.4:p.Ile283Phe
ENST00000372228.7:c.2050A>T	ENSP00000361302.3:p.Ile684Phe
ENST00000402686.7:c.1984A>T	ENSP00000385797.3:p.Ile662Phe
ENST00000404875.6:c.1633A>T	ENSP00000384531.2:p.Ile545Phe
ENST00000423007.5:c.1984A>T	ENSP00000404119.1:p.Ile662Phe
ENST00000485278.5:n.2534A>T
ENST00000494883.1:n.527A>T
NM_001077365.1:c.1984A>T	NP_001070833.1:p.Ile662Phe
NM_001077366.1:c.1822A>T	NP_001070834.1:p.Ile608Phe
NM_001136113.1:c.1984A>T	NP_001129585.1:p.Ile662Phe
NM_001136114.1:c.1633A>T	NP_001129586.1:p.Ile545Phe
NM_007171.3:c.2050A>T	NP_009102.3:p.Ile684Phe
XM_005272156.1:c.2050A>T	XP_005272213.1:p.Ile684Phe
XM_005272158.1:c.1888A>T	XP_005272215.1:p.Ile630Phe
XM_005272159.1:c.1699A>T	XP_005272216.1:p.Ile567Phe
XM_005272162.1:c.853A>T	XP_005272219.1:p.Ile285Phe
XM_006716932.1:c.1699A>T	XP_006716995.1:p.Ile567Phe
XM_011518140.1:c.1903A>T	XP_011516442.1:p.Ile635Phe
XM_011518141.1:c.1837A>T	XP_011516443.1:p.Ile613Phe
XM_011518142.1:c.1741A>T	XP_011516444.1:p.Ile581Phe
XM_011518143.1:c.1735A>T	XP_011516445.1:p.Ile579Phe
XM_011518145.1:c.1594A>T	XP_011516447.1:p.Ile532Phe
XM_011518147.1:c.922A>T	XP_011516449.1:p.Ile308Phe
XR_929703.1:n.2226A>T
NM_001353193.1:c.2050A>T	NP_001340122.1:p.Ile684Phe
NM_001353194.1:c.1822A>T	NP_001340123.1:p.Ile608Phe
NM_001353195.1:c.1633A>T	NP_001340124.1:p.Ile545Phe
NM_001353196.1:c.1894A>T	NP_001340125.1:p.Ile632Phe
NM_001353197.1:c.1888A>T	NP_001340126.1:p.Ile630Phe
NM_001353198.1:c.1888A>T	NP_001340127.1:p.Ile630Phe
NM_001353199.1:c.1699A>T	NP_001340128.1:p.Ile567Phe
NM_001353200.1:c.1528A>T	NP_001340129.1:p.Ile510Phe
NR_148391.1:n.2034A>T
NR_148392.1:n.2252A>T
NR_148393.1:n.2173A>T
NR_148394.1:n.1927A>T
NR_148395.1:n.2325A>T
NR_148396.1:n.1959A>T
NR_148397.1:n.2084A>T
NR_148398.1:n.2039A>T
NR_148399.1:n.2565A>T
NR_148400.1:n.2164A>T
XM_005272162.3:c.853A>T	XP_005272219.1:p.Ile285Phe
XM_006716932.2:c.1699A>T	XP_006716995.1:p.Ile567Phe
XM_011518140.2:c.1903A>T	XP_011516442.1:p.Ile635Phe
XM_011518141.2:c.1837A>T	XP_011516443.1:p.Ile613Phe
XM_011518142.2:c.1741A>T	XP_011516444.1:p.Ile581Phe
XM_011518143.2:c.1735A>T	XP_011516445.1:p.Ile579Phe
XM_011518145.2:c.1594A>T	XP_011516447.1:p.Ile532Phe
XM_017014205.2:c.853A>T	XP_016869694.1:p.Ile285Phe
XM_024447380.1:c.853A>T	XP_024303148.1:p.Ile285Phe
XM_024447381.1:c.1159A>T	XP_024303149.1:p.Ile387Phe
XM_024447382.1:c.853A>T	XP_024303150.1:p.Ile285Phe
XR_001746160.2:n.2154A>T
XR_001746162.2:n.2359A>T
XR_001746164.1:n.2076A>T
XR_001746166.2:n.2371A>T
NM_001077365.2:c.1984A>T MANE Select	NP_001070833.1:p.Ile662Phe
NM_001077366.2:c.1822A>T	NP_001070834.1:p.Ile608Phe
NM_001136113.2:c.1984A>T	NP_001129585.1:p.Ile662Phe
NM_001136114.2:c.1633A>T	NP_001129586.1:p.Ile545Phe
NM_001353193.2:c.2050A>T	NP_001340122.2:p.Ile684Phe
NM_001353194.2:c.1822A>T	NP_001340123.1:p.Ile608Phe
NM_001353195.2:c.1633A>T	NP_001340124.1:p.Ile545Phe
NM_001353196.2:c.1894A>T	NP_001340125.1:p.Ile632Phe
NM_001353197.2:c.1888A>T	NP_001340126.2:p.Ile630Phe
NM_001353198.2:c.1888A>T	NP_001340127.2:p.Ile630Phe
NM_001353199.2:c.1699A>T	NP_001340128.2:p.Ile567Phe
NM_001353200.2:c.1528A>T	NP_001340129.1:p.Ile510Phe
NM_001374689.1:c.1972A>T	NP_001361618.1:p.Ile658Phe
NM_001374690.1:c.1765A>T	NP_001361619.1:p.Ile589Phe
NM_001374691.1:c.1633A>T	NP_001361620.1:p.Ile545Phe
NM_001374692.1:c.1633A>T	NP_001361621.1:p.Ile545Phe
NM_001374693.1:c.1633A>T	NP_001361622.1:p.Ile545Phe
NM_001374695.1:c.1594A>T	NP_001361624.1:p.Ile532Phe
NM_007171.4:c.2050A>T	NP_009102.4:p.Ile684Phe
NR_148391.2:n.2018A>T
NR_148392.2:n.2236A>T
NR_148393.2:n.2157A>T
NR_148394.2:n.1911A>T
NR_148395.2:n.2309A>T
NR_148396.2:n.1943A>T
NR_148397.2:n.2068A>T
NR_148398.2:n.2023A>T
NR_148399.2:n.2549A>T
NR_148400.2:n.2148A>T