Canonical Allele Identifier: CA375313758

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396782T>G (hg19) ; chr9:g.131521395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521395T>G , CM000671.2:g.131521395T>G	GRCh38
NC_000009.11:g.134396782T>G , CM000671.1:g.134396782T>G	GRCh37
NC_000009.10:g.133386603T>G	NCBI36
NG_008896.1:g.23494T>G
NG_008896.2:g.23494T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1586T>G	ENSP00000343034.7:p.Leu529Arg
ENST00000404875.7:n.2288T>G
ENST00000423007.6:c.1805T>G	ENSP00000404119.2:p.Leu602Arg
ENST00000677295.2:c.*2092T>G	ENSP00000504346.2:n.*2092T>G
ENST00000678264.2:c.*1931T>G	ENSP00000503157.2:n.*1931T>G
ENST00000682070.1:n.2213T>G
ENST00000682813.1:n.2152T>G
ENST00000683392.1:n.4495T>G
ENST00000683712.1:n.2153T>G
ENST00000683900.1:n.3648T>G
ENST00000684062.1:n.2414T>G
ENST00000684579.1:n.3594T>G
ENST00000684679.1:n.975T>G
ENST00000341012.12:c.1586T>G	ENSP00000343034.7:p.Leu529Arg
ENST00000372220.5:c.617T>G	ENSP00000361294.5:p.Leu206Arg
ENST00000372228.9:c.1814T>G	ENSP00000361302.3:p.Leu605Arg
ENST00000402686.8:c.1748T>G MANE Select	ENSP00000385797.4:p.Leu583Arg
ENST00000676640.1:c.1748T>G	ENSP00000503281.1:p.Leu583Arg
ENST00000676803.1:c.809T>G	ENSP00000503093.1:p.Leu270Arg
ENST00000676835.1:c.*963T>G	ENSP00000502911.1:n.*963T>G
ENST00000677029.1:c.1292T>G	ENSP00000502936.1:p.Leu431Arg
ENST00000677099.1:c.*1458T>G	ENSP00000504553.1:n.*1458T>G
ENST00000677216.1:c.1397T>G	ENSP00000503772.1:p.Leu466Arg
ENST00000677221.1:n.773T>G
ENST00000677295.1:c.*1125T>G	ENSP00000504346.1:n.*1125T>G
ENST00000677444.1:c.1693T>G
ENST00000677586.1:n.1115T>G
ENST00000677626.1:c.1397T>G	ENSP00000503552.1:p.Leu466Arg
ENST00000677853.1:c.*756T>G	ENSP00000503488.1:n.*756T>G
ENST00000678202.1:n.907T>G
ENST00000678264.1:c.*1125T>G	ENSP00000503157.1:n.*1125T>G
ENST00000678303.1:c.1658T>G	ENSP00000503696.1:p.Leu553Arg
ENST00000678366.1:c.*1997T>G	ENSP00000504353.1:n.*1997T>G
ENST00000678546.1:c.*1693T>G	ENSP00000503062.1:n.*1693T>G
ENST00000678548.1:c.*1820T>G	ENSP00000503934.1:n.*1820T>G
ENST00000678626.1:n.1584T>G
ENST00000678739.1:c.*2069T>G	ENSP00000503806.1:n.*2069T>G
ENST00000678833.1:c.*1500T>G	ENSP00000503893.1:n.*1500T>G
ENST00000679023.1:c.1586T>G	ENSP00000503718.1:p.Leu529Arg
ENST00000679076.1:c.1367T>G
ENST00000679111.1:c.*504T>G	ENSP00000504257.1:n.*504T>G
ENST00000679189.1:c.1397T>G	ENSP00000503356.1:p.Leu466Arg
ENST00000341012.11:c.1586T>G	ENSP00000343034.7:p.Leu529Arg
ENST00000372220.4:c.611T>G	ENSP00000361294.4:p.Leu204Arg
ENST00000372228.7:c.1814T>G	ENSP00000361302.3:p.Leu605Arg
ENST00000402686.7:c.1748T>G	ENSP00000385797.3:p.Leu583Arg
ENST00000404875.6:c.1397T>G	ENSP00000384531.2:p.Leu466Arg
ENST00000423007.5:c.1748T>G	ENSP00000404119.1:p.Leu583Arg
ENST00000467848.1:n.452T>G
ENST00000485278.5:n.2298T>G
ENST00000494883.1:n.291T>G
NM_001077365.1:c.1748T>G	NP_001070833.1:p.Leu583Arg
NM_001077366.1:c.1586T>G	NP_001070834.1:p.Leu529Arg
NM_001136113.1:c.1748T>G	NP_001129585.1:p.Leu583Arg
NM_001136114.1:c.1397T>G	NP_001129586.1:p.Leu466Arg
NM_007171.3:c.1814T>G	NP_009102.3:p.Leu605Arg
XM_005272156.1:c.1814T>G	XP_005272213.1:p.Leu605Arg
XM_005272158.1:c.1652T>G	XP_005272215.1:p.Leu551Arg
XM_005272159.1:c.1463T>G	XP_005272216.1:p.Leu488Arg
XM_005272162.1:c.617T>G	XP_005272219.1:p.Leu206Arg
XM_006716932.1:c.1463T>G	XP_006716995.1:p.Leu488Arg
XM_011518140.1:c.1667T>G	XP_011516442.1:p.Leu556Arg
XM_011518141.1:c.1601T>G	XP_011516443.1:p.Leu534Arg
XM_011518142.1:c.1505T>G	XP_011516444.1:p.Leu502Arg
XM_011518143.1:c.1499T>G	XP_011516445.1:p.Leu500Arg
XM_011518145.1:c.1358T>G	XP_011516447.1:p.Leu453Arg
XM_011518147.1:c.686T>G	XP_011516449.1:p.Leu229Arg
XR_929703.1:n.1990T>G
NM_001353193.1:c.1814T>G	NP_001340122.1:p.Leu605Arg
NM_001353194.1:c.1586T>G	NP_001340123.1:p.Leu529Arg
NM_001353195.1:c.1397T>G	NP_001340124.1:p.Leu466Arg
NM_001353196.1:c.1658T>G	NP_001340125.1:p.Leu553Arg
NM_001353197.1:c.1652T>G	NP_001340126.1:p.Leu551Arg
NM_001353198.1:c.1652T>G	NP_001340127.1:p.Leu551Arg
NM_001353199.1:c.1463T>G	NP_001340128.1:p.Leu488Arg
NM_001353200.1:c.1292T>G	NP_001340129.1:p.Leu431Arg
NR_148391.1:n.1798T>G
NR_148392.1:n.2016T>G
NR_148393.1:n.1937T>G
NR_148394.1:n.1691T>G
NR_148395.1:n.2089T>G
NR_148396.1:n.1723T>G
NR_148397.1:n.1848T>G
NR_148398.1:n.1803T>G
NR_148399.1:n.2329T>G
NR_148400.1:n.1928T>G
XM_005272162.3:c.617T>G	XP_005272219.1:p.Leu206Arg
XM_006716932.2:c.1463T>G	XP_006716995.1:p.Leu488Arg
XM_011518140.2:c.1667T>G	XP_011516442.1:p.Leu556Arg
XM_011518141.2:c.1601T>G	XP_011516443.1:p.Leu534Arg
XM_011518142.2:c.1505T>G	XP_011516444.1:p.Leu502Arg
XM_011518143.2:c.1499T>G	XP_011516445.1:p.Leu500Arg
XM_011518145.2:c.1358T>G	XP_011516447.1:p.Leu453Arg
XM_017014205.2:c.617T>G	XP_016869694.1:p.Leu206Arg
XM_024447380.1:c.617T>G	XP_024303148.1:p.Leu206Arg
XM_024447381.1:c.923T>G	XP_024303149.1:p.Leu308Arg
XM_024447382.1:c.617T>G	XP_024303150.1:p.Leu206Arg
XR_001746160.2:n.1918T>G
XR_001746162.2:n.2123T>G
XR_001746164.1:n.1840T>G
XR_001746166.2:n.2135T>G
NM_001077365.2:c.1748T>G MANE Select	NP_001070833.1:p.Leu583Arg
NM_001077366.2:c.1586T>G	NP_001070834.1:p.Leu529Arg
NM_001136113.2:c.1748T>G	NP_001129585.1:p.Leu583Arg
NM_001136114.2:c.1397T>G	NP_001129586.1:p.Leu466Arg
NM_001353193.2:c.1814T>G	NP_001340122.2:p.Leu605Arg
NM_001353194.2:c.1586T>G	NP_001340123.1:p.Leu529Arg
NM_001353195.2:c.1397T>G	NP_001340124.1:p.Leu466Arg
NM_001353196.2:c.1658T>G	NP_001340125.1:p.Leu553Arg
NM_001353197.2:c.1652T>G	NP_001340126.2:p.Leu551Arg
NM_001353198.2:c.1652T>G	NP_001340127.2:p.Leu551Arg
NM_001353199.2:c.1463T>G	NP_001340128.2:p.Leu488Arg
NM_001353200.2:c.1292T>G	NP_001340129.1:p.Leu431Arg
NM_001374689.1:c.1736T>G	NP_001361618.1:p.Leu579Arg
NM_001374690.1:c.1529T>G	NP_001361619.1:p.Leu510Arg
NM_001374691.1:c.1397T>G	NP_001361620.1:p.Leu466Arg
NM_001374692.1:c.1397T>G	NP_001361621.1:p.Leu466Arg
NM_001374693.1:c.1397T>G	NP_001361622.1:p.Leu466Arg
NM_001374695.1:c.1358T>G	NP_001361624.1:p.Leu453Arg
NM_007171.4:c.1814T>G	NP_009102.4:p.Leu605Arg
NR_148391.2:n.1782T>G
NR_148392.2:n.2000T>G
NR_148393.2:n.1921T>G
NR_148394.2:n.1675T>G
NR_148395.2:n.2073T>G
NR_148396.2:n.1707T>G
NR_148397.2:n.1832T>G
NR_148398.2:n.1787T>G
NR_148399.2:n.2313T>G
NR_148400.2:n.1912T>G