Canonical Allele Identifier: CA375314978

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522956-C-A
• MyVariant Identifiers: chr9:g.134398343C>A (hg19) ; chr9:g.131522956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522956C>A , CM000671.2:g.131522956C>A	GRCh38
NC_000009.11:g.134398343C>A , CM000671.1:g.134398343C>A	GRCh37
NC_000009.10:g.133388164C>A	NCBI36
NG_008896.1:g.25055C>A
NG_008896.2:g.25055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1866C>A	ENSP00000343034.7:p.Phe622Leu
ENST00000404875.7:n.2568C>A
ENST00000423007.6:c.2085C>A	ENSP00000404119.2:p.Phe695Leu
ENST00000677295.2:c.*2372C>A	ENSP00000504346.2:n.*2372C>A
ENST00000678264.2:c.*2211C>A	ENSP00000503157.2:n.*2211C>A
ENST00000682070.1:n.2338C>A
ENST00000682639.1:c.25C>A
ENST00000682813.1:n.2425C>A
ENST00000683231.1:c.25C>A
ENST00000683392.1:n.4620C>A
ENST00000683712.1:n.2433C>A
ENST00000683900.1:n.3928C>A
ENST00000684062.1:n.2694C>A
ENST00000684399.1:c.25C>A
ENST00000684579.1:n.3874C>A
ENST00000341012.12:c.1866C>A	ENSP00000343034.7:p.Phe622Leu
ENST00000372220.5:c.897C>A	ENSP00000361294.5:p.Phe299Leu
ENST00000372228.9:c.2094C>A	ENSP00000361302.3:p.Phe698Leu
ENST00000402686.8:c.2028C>A MANE Select	ENSP00000385797.4:p.Phe676Leu
ENST00000676640.1:c.2028C>A	ENSP00000503281.1:p.Phe676Leu
ENST00000676803.1:c.1089C>A	ENSP00000503093.1:p.Phe363Leu
ENST00000676835.1:c.*1243C>A	ENSP00000502911.1:n.*1243C>A
ENST00000677029.1:c.1572C>A	ENSP00000502936.1:p.Phe524Leu
ENST00000677099.1:c.*1738C>A	ENSP00000504553.1:n.*1738C>A
ENST00000677216.1:c.1677C>A	ENSP00000503772.1:p.Phe559Leu
ENST00000677221.1:n.1053C>A
ENST00000677295.1:c.*1250C>A	ENSP00000504346.1:n.*1250C>A
ENST00000677444.1:c.1973C>A
ENST00000677586.1:n.1395C>A
ENST00000677626.1:c.1677C>A	ENSP00000503552.1:p.Phe559Leu
ENST00000677853.1:c.*1036C>A	ENSP00000503488.1:n.*1036C>A
ENST00000678264.1:c.*1405C>A	ENSP00000503157.1:n.*1405C>A
ENST00000678303.1:c.1938C>A	ENSP00000503696.1:p.Phe646Leu
ENST00000678366.1:c.*2277C>A	ENSP00000504353.1:n.*2277C>A
ENST00000678546.1:c.*1973C>A	ENSP00000503062.1:n.*1973C>A
ENST00000678548.1:c.*2167C>A	ENSP00000503934.1:n.*2167C>A
ENST00000678626.1:n.1864C>A
ENST00000678739.1:c.*2194C>A	ENSP00000503806.1:n.*2194C>A
ENST00000678833.1:c.*1780C>A	ENSP00000503893.1:n.*1780C>A
ENST00000679023.1:c.1866C>A	ENSP00000503718.1:p.Phe622Leu
ENST00000679076.1:c.1647C>A
ENST00000679111.1:c.*784C>A	ENSP00000504257.1:n.*784C>A
ENST00000679189.1:c.1677C>A	ENSP00000503356.1:p.Phe559Leu
ENST00000341012.11:c.1866C>A	ENSP00000343034.7:p.Phe622Leu
ENST00000372220.4:c.891C>A	ENSP00000361294.4:p.Phe297Leu
ENST00000372228.7:c.2094C>A	ENSP00000361302.3:p.Phe698Leu
ENST00000402686.7:c.2028C>A	ENSP00000385797.3:p.Phe676Leu
ENST00000404875.6:c.1677C>A	ENSP00000384531.2:p.Phe559Leu
ENST00000423007.5:c.2028C>A	ENSP00000404119.1:p.Phe676Leu
ENST00000485278.5:n.2578C>A
NM_001077365.1:c.2028C>A	NP_001070833.1:p.Phe676Leu
NM_001077366.1:c.1866C>A	NP_001070834.1:p.Phe622Leu
NM_001136113.1:c.2028C>A	NP_001129585.1:p.Phe676Leu
NM_001136114.1:c.1677C>A	NP_001129586.1:p.Phe559Leu
NM_007171.3:c.2094C>A	NP_009102.3:p.Phe698Leu
XM_005272156.1:c.2094C>A	XP_005272213.1:p.Phe698Leu
XM_005272158.1:c.1932C>A	XP_005272215.1:p.Phe644Leu
XM_005272159.1:c.1743C>A	XP_005272216.1:p.Phe581Leu
XM_005272162.1:c.897C>A	XP_005272219.1:p.Phe299Leu
XM_006716932.1:c.1743C>A	XP_006716995.1:p.Phe581Leu
XM_011518140.1:c.1947C>A	XP_011516442.1:p.Phe649Leu
XM_011518141.1:c.1881C>A	XP_011516443.1:p.Phe627Leu
XM_011518142.1:c.1785C>A	XP_011516444.1:p.Phe595Leu
XM_011518143.1:c.1779C>A	XP_011516445.1:p.Phe593Leu
XM_011518145.1:c.1638C>A	XP_011516447.1:p.Phe546Leu
XM_011518147.1:c.966C>A	XP_011516449.1:p.Phe322Leu
XR_929703.1:n.2270C>A
NM_001353193.1:c.2094C>A	NP_001340122.1:p.Phe698Leu
NM_001353194.1:c.1866C>A	NP_001340123.1:p.Phe622Leu
NM_001353195.1:c.1677C>A	NP_001340124.1:p.Phe559Leu
NM_001353196.1:c.1938C>A	NP_001340125.1:p.Phe646Leu
NM_001353197.1:c.1932C>A	NP_001340126.1:p.Phe644Leu
NM_001353198.1:c.1932C>A	NP_001340127.1:p.Phe644Leu
NM_001353199.1:c.1743C>A	NP_001340128.1:p.Phe581Leu
NM_001353200.1:c.1572C>A	NP_001340129.1:p.Phe524Leu
NR_148391.1:n.2078C>A
NR_148392.1:n.2296C>A
NR_148393.1:n.2217C>A
NR_148394.1:n.1971C>A
NR_148395.1:n.2369C>A
NR_148396.1:n.2003C>A
NR_148397.1:n.2128C>A
NR_148398.1:n.2083C>A
NR_148399.1:n.2609C>A
NR_148400.1:n.2208C>A
XM_005272162.3:c.897C>A	XP_005272219.1:p.Phe299Leu
XM_006716932.2:c.1743C>A	XP_006716995.1:p.Phe581Leu
XM_011518140.2:c.1947C>A	XP_011516442.1:p.Phe649Leu
XM_011518141.2:c.1881C>A	XP_011516443.1:p.Phe627Leu
XM_011518142.2:c.1785C>A	XP_011516444.1:p.Phe595Leu
XM_011518143.2:c.1779C>A	XP_011516445.1:p.Phe593Leu
XM_011518145.2:c.1638C>A	XP_011516447.1:p.Phe546Leu
XM_017014205.2:c.897C>A	XP_016869694.1:p.Phe299Leu
XM_024447380.1:c.897C>A	XP_024303148.1:p.Phe299Leu
XM_024447381.1:c.1203C>A	XP_024303149.1:p.Phe401Leu
XM_024447382.1:c.897C>A	XP_024303150.1:p.Phe299Leu
XR_001746160.2:n.2198C>A
XR_001746162.2:n.2403C>A
XR_001746164.1:n.2120C>A
XR_001746166.2:n.2415C>A
NM_001077365.2:c.2028C>A MANE Select	NP_001070833.1:p.Phe676Leu
NM_001077366.2:c.1866C>A	NP_001070834.1:p.Phe622Leu
NM_001136113.2:c.2028C>A	NP_001129585.1:p.Phe676Leu
NM_001136114.2:c.1677C>A	NP_001129586.1:p.Phe559Leu
NM_001353193.2:c.2094C>A	NP_001340122.2:p.Phe698Leu
NM_001353194.2:c.1866C>A	NP_001340123.1:p.Phe622Leu
NM_001353195.2:c.1677C>A	NP_001340124.1:p.Phe559Leu
NM_001353196.2:c.1938C>A	NP_001340125.1:p.Phe646Leu
NM_001353197.2:c.1932C>A	NP_001340126.2:p.Phe644Leu
NM_001353198.2:c.1932C>A	NP_001340127.2:p.Phe644Leu
NM_001353199.2:c.1743C>A	NP_001340128.2:p.Phe581Leu
NM_001353200.2:c.1572C>A	NP_001340129.1:p.Phe524Leu
NM_001374689.1:c.2016C>A	NP_001361618.1:p.Phe672Leu
NM_001374690.1:c.1809C>A	NP_001361619.1:p.Phe603Leu
NM_001374691.1:c.1677C>A	NP_001361620.1:p.Phe559Leu
NM_001374692.1:c.1677C>A	NP_001361621.1:p.Phe559Leu
NM_001374693.1:c.1677C>A	NP_001361622.1:p.Phe559Leu
NM_001374695.1:c.1638C>A	NP_001361624.1:p.Phe546Leu
NM_007171.4:c.2094C>A	NP_009102.4:p.Phe698Leu
NR_148391.2:n.2062C>A
NR_148392.2:n.2280C>A
NR_148393.2:n.2201C>A
NR_148394.2:n.1955C>A
NR_148395.2:n.2353C>A
NR_148396.2:n.1987C>A
NR_148397.2:n.2112C>A
NR_148398.2:n.2067C>A
NR_148399.2:n.2593C>A
NR_148400.2:n.2192C>A