Canonical Allele Identifier: CA467424200

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398409C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523022C>T , CM000671.2:g.131523022C>T	GRCh38
NC_000009.11:g.134398409C>T , CM000671.1:g.134398409C>T	GRCh37
NC_000009.10:g.133388230C>T	NCBI36
NG_008896.1:g.25121C>T
NG_008896.2:g.25121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1932C>T	ENSP00000343034.7:p.Thr644=
ENST00000404875.7:n.2634C>T
ENST00000423007.6:c.2151C>T	ENSP00000404119.2:p.Thr717=
ENST00000677295.2:c.*2438C>T	ENSP00000504346.2:n.*2438C>T
ENST00000678264.2:c.*2277C>T	ENSP00000503157.2:n.*2277C>T
ENST00000682070.1:n.2404C>T
ENST00000682639.1:c.91C>T
ENST00000682813.1:n.2491C>T
ENST00000683231.1:c.91C>T
ENST00000683392.1:n.4686C>T
ENST00000683712.1:n.2499C>T
ENST00000683900.1:n.3994C>T
ENST00000684062.1:n.2760C>T
ENST00000684399.1:c.91C>T
ENST00000684579.1:n.3940C>T
ENST00000341012.12:c.1932C>T	ENSP00000343034.7:p.Thr644=
ENST00000372220.5:c.963C>T	ENSP00000361294.5:p.Thr321=
ENST00000372228.9:c.2160C>T	ENSP00000361302.3:p.Thr720=
ENST00000402686.8:c.2094C>T MANE Select	ENSP00000385797.4:p.Thr698=
ENST00000676640.1:c.2094C>T	ENSP00000503281.1:p.Thr698=
ENST00000676803.1:c.1155C>T	ENSP00000503093.1:p.Thr385=
ENST00000676835.1:c.*1309C>T	ENSP00000502911.1:n.*1309C>T
ENST00000677029.1:c.1638C>T	ENSP00000502936.1:p.Thr546=
ENST00000677099.1:c.*1804C>T	ENSP00000504553.1:n.*1804C>T
ENST00000677216.1:c.1743C>T	ENSP00000503772.1:p.Thr581=
ENST00000677295.1:c.*1316C>T	ENSP00000504346.1:n.*1316C>T
ENST00000677444.1:c.2039C>T
ENST00000677586.1:n.1461C>T
ENST00000677626.1:c.1743C>T	ENSP00000503552.1:p.Thr581=
ENST00000677853.1:c.*1102C>T	ENSP00000503488.1:n.*1102C>T
ENST00000678264.1:c.*1471C>T	ENSP00000503157.1:n.*1471C>T
ENST00000678303.1:c.2004C>T	ENSP00000503696.1:p.Thr668=
ENST00000678366.1:c.*2343C>T	ENSP00000504353.1:n.*2343C>T
ENST00000678546.1:c.*2039C>T	ENSP00000503062.1:n.*2039C>T
ENST00000678548.1:c.*2233C>T	ENSP00000503934.1:n.*2233C>T
ENST00000678626.1:n.1930C>T
ENST00000678739.1:c.*2260C>T	ENSP00000503806.1:n.*2260C>T
ENST00000678833.1:c.*1846C>T	ENSP00000503893.1:n.*1846C>T
ENST00000679023.1:c.1932C>T	ENSP00000503718.1:p.Thr644=
ENST00000679076.1:c.1713C>T
ENST00000679111.1:c.*850C>T	ENSP00000504257.1:n.*850C>T
ENST00000679189.1:c.1743C>T	ENSP00000503356.1:p.Thr581=
ENST00000341012.11:c.1932C>T	ENSP00000343034.7:p.Thr644=
ENST00000372220.4:c.957C>T	ENSP00000361294.4:p.Thr319=
ENST00000372228.7:c.2160C>T	ENSP00000361302.3:p.Thr720=
ENST00000402686.7:c.2094C>T	ENSP00000385797.3:p.Thr698=
ENST00000404875.6:c.1743C>T	ENSP00000384531.2:p.Thr581=
ENST00000423007.5:c.2094C>T	ENSP00000404119.1:p.Thr698=
ENST00000485278.5:n.2644C>T
NM_001077365.1:c.2094C>T	NP_001070833.1:p.Thr698=
NM_001077366.1:c.1932C>T	NP_001070834.1:p.Thr644=
NM_001136113.1:c.2094C>T	NP_001129585.1:p.Thr698=
NM_001136114.1:c.1743C>T	NP_001129586.1:p.Thr581=
NM_007171.3:c.2160C>T	NP_009102.3:p.Thr720=
XM_005272156.1:c.2160C>T	XP_005272213.1:p.Thr720=
XM_005272158.1:c.1998C>T	XP_005272215.1:p.Thr666=
XM_005272159.1:c.1809C>T	XP_005272216.1:p.Thr603=
XM_005272162.1:c.963C>T	XP_005272219.1:p.Thr321=
XM_006716932.1:c.1809C>T	XP_006716995.1:p.Thr603=
XM_011518140.1:c.2013C>T	XP_011516442.1:p.Thr671=
XM_011518141.1:c.1947C>T	XP_011516443.1:p.Thr649=
XM_011518142.1:c.1851C>T	XP_011516444.1:p.Thr617=
XM_011518143.1:c.1845C>T	XP_011516445.1:p.Thr615=
XM_011518145.1:c.1704C>T	XP_011516447.1:p.Thr568=
XM_011518147.1:c.1032C>T	XP_011516449.1:p.Thr344=
XR_929703.1:n.2336C>T
NM_001353193.1:c.2160C>T	NP_001340122.1:p.Thr720=
NM_001353194.1:c.1932C>T	NP_001340123.1:p.Thr644=
NM_001353195.1:c.1743C>T	NP_001340124.1:p.Thr581=
NM_001353196.1:c.2004C>T	NP_001340125.1:p.Thr668=
NM_001353197.1:c.1998C>T	NP_001340126.1:p.Thr666=
NM_001353198.1:c.1998C>T	NP_001340127.1:p.Thr666=
NM_001353199.1:c.1809C>T	NP_001340128.1:p.Thr603=
NM_001353200.1:c.1638C>T	NP_001340129.1:p.Thr546=
NR_148391.1:n.2144C>T
NR_148392.1:n.2362C>T
NR_148393.1:n.2283C>T
NR_148394.1:n.2037C>T
NR_148395.1:n.2435C>T
NR_148396.1:n.2069C>T
NR_148397.1:n.2194C>T
NR_148398.1:n.2149C>T
NR_148399.1:n.2675C>T
NR_148400.1:n.2274C>T
XM_005272162.3:c.963C>T	XP_005272219.1:p.Thr321=
XM_006716932.2:c.1809C>T	XP_006716995.1:p.Thr603=
XM_011518140.2:c.2013C>T	XP_011516442.1:p.Thr671=
XM_011518141.2:c.1947C>T	XP_011516443.1:p.Thr649=
XM_011518142.2:c.1851C>T	XP_011516444.1:p.Thr617=
XM_011518143.2:c.1845C>T	XP_011516445.1:p.Thr615=
XM_011518145.2:c.1704C>T	XP_011516447.1:p.Thr568=
XM_017014205.2:c.963C>T	XP_016869694.1:p.Thr321=
XM_024447380.1:c.963C>T	XP_024303148.1:p.Thr321=
XM_024447381.1:c.1269C>T	XP_024303149.1:p.Thr423=
XM_024447382.1:c.963C>T	XP_024303150.1:p.Thr321=
XR_001746160.2:n.2264C>T
XR_001746162.2:n.2469C>T
XR_001746164.1:n.2186C>T
XR_001746166.2:n.2481C>T
NM_001077365.2:c.2094C>T MANE Select	NP_001070833.1:p.Thr698=
NM_001077366.2:c.1932C>T	NP_001070834.1:p.Thr644=
NM_001136113.2:c.2094C>T	NP_001129585.1:p.Thr698=
NM_001136114.2:c.1743C>T	NP_001129586.1:p.Thr581=
NM_001353193.2:c.2160C>T	NP_001340122.2:p.Thr720=
NM_001353194.2:c.1932C>T	NP_001340123.1:p.Thr644=
NM_001353195.2:c.1743C>T	NP_001340124.1:p.Thr581=
NM_001353196.2:c.2004C>T	NP_001340125.1:p.Thr668=
NM_001353197.2:c.1998C>T	NP_001340126.2:p.Thr666=
NM_001353198.2:c.1998C>T	NP_001340127.2:p.Thr666=
NM_001353199.2:c.1809C>T	NP_001340128.2:p.Thr603=
NM_001353200.2:c.1638C>T	NP_001340129.1:p.Thr546=
NM_001374689.1:c.2082C>T	NP_001361618.1:p.Thr694=
NM_001374690.1:c.1875C>T	NP_001361619.1:p.Thr625=
NM_001374691.1:c.1743C>T	NP_001361620.1:p.Thr581=
NM_001374692.1:c.1743C>T	NP_001361621.1:p.Thr581=
NM_001374693.1:c.1743C>T	NP_001361622.1:p.Thr581=
NM_001374695.1:c.1704C>T	NP_001361624.1:p.Thr568=
NM_007171.4:c.2160C>T	NP_009102.4:p.Thr720=
NR_148391.2:n.2128C>T
NR_148392.2:n.2346C>T
NR_148393.2:n.2267C>T
NR_148394.2:n.2021C>T
NR_148395.2:n.2419C>T
NR_148396.2:n.2053C>T
NR_148397.2:n.2178C>T
NR_148398.2:n.2133C>T
NR_148399.2:n.2659C>T
NR_148400.2:n.2258C>T