Canonical Allele Identifier: CA375313573

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396737A>G (hg19) ; chr9:g.131521350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521350A>G , CM000671.2:g.131521350A>G	GRCh38
NC_000009.11:g.134396737A>G , CM000671.1:g.134396737A>G	GRCh37
NC_000009.10:g.133386558A>G	NCBI36
NG_008896.1:g.23449A>G
NG_008896.2:g.23449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1541A>G	ENSP00000343034.7:p.Gln514Arg
ENST00000404875.7:n.2243A>G
ENST00000423007.6:c.1760A>G	ENSP00000404119.2:p.Gln587Arg
ENST00000677295.2:c.*2047A>G	ENSP00000504346.2:n.*2047A>G
ENST00000678264.2:c.*1886A>G	ENSP00000503157.2:n.*1886A>G
ENST00000682070.1:n.2168A>G
ENST00000682813.1:n.2107A>G
ENST00000683392.1:n.4450A>G
ENST00000683712.1:n.2108A>G
ENST00000683900.1:n.3603A>G
ENST00000684062.1:n.2369A>G
ENST00000684579.1:n.3549A>G
ENST00000684679.1:n.930A>G
ENST00000341012.12:c.1541A>G	ENSP00000343034.7:p.Gln514Arg
ENST00000372220.5:c.572A>G	ENSP00000361294.5:p.Gln191Arg
ENST00000372228.9:c.1769A>G	ENSP00000361302.3:p.Gln590Arg
ENST00000402686.8:c.1703A>G MANE Select	ENSP00000385797.4:p.Gln568Arg
ENST00000676640.1:c.1703A>G	ENSP00000503281.1:p.Gln568Arg
ENST00000676803.1:c.764A>G	ENSP00000503093.1:p.Gln255Arg
ENST00000676835.1:c.*918A>G	ENSP00000502911.1:n.*918A>G
ENST00000677029.1:c.1247A>G	ENSP00000502936.1:p.Gln416Arg
ENST00000677099.1:c.*1413A>G	ENSP00000504553.1:n.*1413A>G
ENST00000677216.1:c.1352A>G	ENSP00000503772.1:p.Gln451Arg
ENST00000677221.1:n.728A>G
ENST00000677295.1:c.*1080A>G	ENSP00000504346.1:n.*1080A>G
ENST00000677444.1:c.1648A>G
ENST00000677586.1:n.1070A>G
ENST00000677626.1:c.1352A>G	ENSP00000503552.1:p.Gln451Arg
ENST00000677853.1:c.*711A>G	ENSP00000503488.1:n.*711A>G
ENST00000678202.1:n.862A>G
ENST00000678264.1:c.*1080A>G	ENSP00000503157.1:n.*1080A>G
ENST00000678303.1:c.1613A>G	ENSP00000503696.1:p.Gln538Arg
ENST00000678366.1:c.*1952A>G	ENSP00000504353.1:n.*1952A>G
ENST00000678546.1:c.*1648A>G	ENSP00000503062.1:n.*1648A>G
ENST00000678548.1:c.*1775A>G	ENSP00000503934.1:n.*1775A>G
ENST00000678626.1:n.1539A>G
ENST00000678739.1:c.*2024A>G	ENSP00000503806.1:n.*2024A>G
ENST00000678833.1:c.*1455A>G	ENSP00000503893.1:n.*1455A>G
ENST00000679023.1:c.1541A>G	ENSP00000503718.1:p.Gln514Arg
ENST00000679076.1:c.1322A>G
ENST00000679111.1:c.*459A>G	ENSP00000504257.1:n.*459A>G
ENST00000679189.1:c.1352A>G	ENSP00000503356.1:p.Gln451Arg
ENST00000341012.11:c.1541A>G	ENSP00000343034.7:p.Gln514Arg
ENST00000372220.4:c.566A>G	ENSP00000361294.4:p.Gln189Arg
ENST00000372228.7:c.1769A>G	ENSP00000361302.3:p.Gln590Arg
ENST00000402686.7:c.1703A>G	ENSP00000385797.3:p.Gln568Arg
ENST00000404875.6:c.1352A>G	ENSP00000384531.2:p.Gln451Arg
ENST00000423007.5:c.1703A>G	ENSP00000404119.1:p.Gln568Arg
ENST00000467848.1:n.407A>G
ENST00000485278.5:n.2253A>G
ENST00000494883.1:n.246A>G
NM_001077365.1:c.1703A>G	NP_001070833.1:p.Gln568Arg
NM_001077366.1:c.1541A>G	NP_001070834.1:p.Gln514Arg
NM_001136113.1:c.1703A>G	NP_001129585.1:p.Gln568Arg
NM_001136114.1:c.1352A>G	NP_001129586.1:p.Gln451Arg
NM_007171.3:c.1769A>G	NP_009102.3:p.Gln590Arg
XM_005272156.1:c.1769A>G	XP_005272213.1:p.Gln590Arg
XM_005272158.1:c.1607A>G	XP_005272215.1:p.Gln536Arg
XM_005272159.1:c.1418A>G	XP_005272216.1:p.Gln473Arg
XM_005272162.1:c.572A>G	XP_005272219.1:p.Gln191Arg
XM_006716932.1:c.1418A>G	XP_006716995.1:p.Gln473Arg
XM_011518140.1:c.1622A>G	XP_011516442.1:p.Gln541Arg
XM_011518141.1:c.1556A>G	XP_011516443.1:p.Gln519Arg
XM_011518142.1:c.1460A>G	XP_011516444.1:p.Gln487Arg
XM_011518143.1:c.1454A>G	XP_011516445.1:p.Gln485Arg
XM_011518145.1:c.1313A>G	XP_011516447.1:p.Gln438Arg
XM_011518147.1:c.641A>G	XP_011516449.1:p.Gln214Arg
XR_929703.1:n.1945A>G
NM_001353193.1:c.1769A>G	NP_001340122.1:p.Gln590Arg
NM_001353194.1:c.1541A>G	NP_001340123.1:p.Gln514Arg
NM_001353195.1:c.1352A>G	NP_001340124.1:p.Gln451Arg
NM_001353196.1:c.1613A>G	NP_001340125.1:p.Gln538Arg
NM_001353197.1:c.1607A>G	NP_001340126.1:p.Gln536Arg
NM_001353198.1:c.1607A>G	NP_001340127.1:p.Gln536Arg
NM_001353199.1:c.1418A>G	NP_001340128.1:p.Gln473Arg
NM_001353200.1:c.1247A>G	NP_001340129.1:p.Gln416Arg
NR_148391.1:n.1753A>G
NR_148392.1:n.1971A>G
NR_148393.1:n.1892A>G
NR_148394.1:n.1646A>G
NR_148395.1:n.2044A>G
NR_148396.1:n.1678A>G
NR_148397.1:n.1803A>G
NR_148398.1:n.1758A>G
NR_148399.1:n.2284A>G
NR_148400.1:n.1883A>G
XM_005272162.3:c.572A>G	XP_005272219.1:p.Gln191Arg
XM_006716932.2:c.1418A>G	XP_006716995.1:p.Gln473Arg
XM_011518140.2:c.1622A>G	XP_011516442.1:p.Gln541Arg
XM_011518141.2:c.1556A>G	XP_011516443.1:p.Gln519Arg
XM_011518142.2:c.1460A>G	XP_011516444.1:p.Gln487Arg
XM_011518143.2:c.1454A>G	XP_011516445.1:p.Gln485Arg
XM_011518145.2:c.1313A>G	XP_011516447.1:p.Gln438Arg
XM_017014205.2:c.572A>G	XP_016869694.1:p.Gln191Arg
XM_024447380.1:c.572A>G	XP_024303148.1:p.Gln191Arg
XM_024447381.1:c.878A>G	XP_024303149.1:p.Gln293Arg
XM_024447382.1:c.572A>G	XP_024303150.1:p.Gln191Arg
XR_001746160.2:n.1873A>G
XR_001746162.2:n.2078A>G
XR_001746164.1:n.1795A>G
XR_001746166.2:n.2090A>G
NM_001077365.2:c.1703A>G MANE Select	NP_001070833.1:p.Gln568Arg
NM_001077366.2:c.1541A>G	NP_001070834.1:p.Gln514Arg
NM_001136113.2:c.1703A>G	NP_001129585.1:p.Gln568Arg
NM_001136114.2:c.1352A>G	NP_001129586.1:p.Gln451Arg
NM_001353193.2:c.1769A>G	NP_001340122.2:p.Gln590Arg
NM_001353194.2:c.1541A>G	NP_001340123.1:p.Gln514Arg
NM_001353195.2:c.1352A>G	NP_001340124.1:p.Gln451Arg
NM_001353196.2:c.1613A>G	NP_001340125.1:p.Gln538Arg
NM_001353197.2:c.1607A>G	NP_001340126.2:p.Gln536Arg
NM_001353198.2:c.1607A>G	NP_001340127.2:p.Gln536Arg
NM_001353199.2:c.1418A>G	NP_001340128.2:p.Gln473Arg
NM_001353200.2:c.1247A>G	NP_001340129.1:p.Gln416Arg
NM_001374689.1:c.1691A>G	NP_001361618.1:p.Gln564Arg
NM_001374690.1:c.1484A>G	NP_001361619.1:p.Gln495Arg
NM_001374691.1:c.1352A>G	NP_001361620.1:p.Gln451Arg
NM_001374692.1:c.1352A>G	NP_001361621.1:p.Gln451Arg
NM_001374693.1:c.1352A>G	NP_001361622.1:p.Gln451Arg
NM_001374695.1:c.1313A>G	NP_001361624.1:p.Gln438Arg
NM_007171.4:c.1769A>G	NP_009102.4:p.Gln590Arg
NR_148391.2:n.1737A>G
NR_148392.2:n.1955A>G
NR_148393.2:n.1876A>G
NR_148394.2:n.1630A>G
NR_148395.2:n.2028A>G
NR_148396.2:n.1662A>G
NR_148397.2:n.1787A>G
NR_148398.2:n.1742A>G
NR_148399.2:n.2268A>G
NR_148400.2:n.1867A>G