Canonical Allele Identifier: CA375311951

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394284C>A (hg19) ; chr9:g.131518897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518897C>A , CM000671.2:g.131518897C>A	GRCh38
NC_000009.11:g.134394284C>A , CM000671.1:g.134394284C>A	GRCh37
NC_000009.10:g.133384105C>A	NCBI36
NG_008896.1:g.20996C>A
NG_008896.2:g.20996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1264C>A	ENSP00000343034.7:p.Leu422Met
ENST00000404875.7:n.1966C>A
ENST00000423007.6:c.1483C>A	ENSP00000404119.2:p.Leu495Met
ENST00000677295.2:c.*1770C>A	ENSP00000504346.2:n.*1770C>A
ENST00000678264.2:c.*1609C>A	ENSP00000503157.2:n.*1609C>A
ENST00000682070.1:n.1891C>A
ENST00000682539.1:c.364C>A
ENST00000682813.1:n.1830C>A
ENST00000683392.1:n.4173C>A
ENST00000683712.1:n.1831C>A
ENST00000683900.1:n.3326C>A
ENST00000684062.1:n.2092C>A
ENST00000684579.1:n.3272C>A
ENST00000684679.1:n.653C>A
ENST00000341012.12:c.1264C>A	ENSP00000343034.7:p.Leu422Met
ENST00000372220.5:c.295C>A	ENSP00000361294.5:p.Leu99Met
ENST00000372228.9:c.1492C>A	ENSP00000361302.3:p.Leu498Met
ENST00000402686.8:c.1426C>A MANE Select	ENSP00000385797.4:p.Leu476Met
ENST00000676640.1:c.1426C>A	ENSP00000503281.1:p.Leu476Met
ENST00000676803.1:c.601C>A	ENSP00000503093.1:p.Leu201Met
ENST00000676835.1:c.*641C>A	ENSP00000502911.1:n.*641C>A
ENST00000677029.1:c.970C>A	ENSP00000502936.1:p.Leu324Met
ENST00000677099.1:c.*1136C>A	ENSP00000504553.1:n.*1136C>A
ENST00000677216.1:c.1075C>A	ENSP00000503772.1:p.Leu359Met
ENST00000677221.1:n.451C>A
ENST00000677295.1:c.*803C>A	ENSP00000504346.1:n.*803C>A
ENST00000677444.1:c.1371C>A
ENST00000677586.1:n.907C>A
ENST00000677626.1:c.1075C>A	ENSP00000503552.1:p.Leu359Met
ENST00000677677.1:n.1386C>A
ENST00000677853.1:c.*434C>A	ENSP00000503488.1:n.*434C>A
ENST00000678202.1:n.585C>A
ENST00000678264.1:c.*803C>A	ENSP00000503157.1:n.*803C>A
ENST00000678303.1:c.1336C>A	ENSP00000503696.1:p.Leu446Met
ENST00000678366.1:c.*1675C>A	ENSP00000504353.1:n.*1675C>A
ENST00000678546.1:c.*1371C>A	ENSP00000503062.1:n.*1371C>A
ENST00000678548.1:c.*1498C>A	ENSP00000503934.1:n.*1498C>A
ENST00000678626.1:n.1262C>A
ENST00000678733.1:c.507C>A
ENST00000678739.1:c.*1752C>A	ENSP00000503806.1:n.*1752C>A
ENST00000678833.1:c.*873C>A	ENSP00000503893.1:n.*873C>A
ENST00000679023.1:c.1264C>A	ENSP00000503718.1:p.Leu422Met
ENST00000679076.1:c.1045C>A
ENST00000679111.1:c.*182C>A	ENSP00000504257.1:n.*182C>A
ENST00000679189.1:c.1075C>A	ENSP00000503356.1:p.Leu359Met
ENST00000341012.11:c.1264C>A	ENSP00000343034.7:p.Leu422Met
ENST00000372220.4:c.289C>A	ENSP00000361294.4:p.Leu97Met
ENST00000372228.7:c.1492C>A	ENSP00000361302.3:p.Leu498Met
ENST00000402686.7:c.1426C>A	ENSP00000385797.3:p.Leu476Met
ENST00000404875.6:c.1075C>A	ENSP00000384531.2:p.Leu359Met
ENST00000423007.5:c.1426C>A	ENSP00000404119.1:p.Leu476Met
ENST00000467848.1:n.130C>A
ENST00000485278.5:n.1981C>A
NM_001077365.1:c.1426C>A	NP_001070833.1:p.Leu476Met
NM_001077366.1:c.1264C>A	NP_001070834.1:p.Leu422Met
NM_001136113.1:c.1426C>A	NP_001129585.1:p.Leu476Met
NM_001136114.1:c.1075C>A	NP_001129586.1:p.Leu359Met
NM_007171.3:c.1492C>A	NP_009102.3:p.Leu498Met
XM_005272156.1:c.1492C>A	XP_005272213.1:p.Leu498Met
XM_005272158.1:c.1330C>A	XP_005272215.1:p.Leu444Met
XM_005272159.1:c.1141C>A	XP_005272216.1:p.Leu381Met
XM_005272162.1:c.295C>A	XP_005272219.1:p.Leu99Met
XM_006716932.1:c.1141C>A	XP_006716995.1:p.Leu381Met
XM_011518140.1:c.1345C>A	XP_011516442.1:p.Leu449Met
XM_011518141.1:c.1279C>A	XP_011516443.1:p.Leu427Met
XM_011518142.1:c.1183C>A	XP_011516444.1:p.Leu395Met
XM_011518143.1:c.1177C>A	XP_011516445.1:p.Leu393Met
XM_011518145.1:c.1036C>A	XP_011516447.1:p.Leu346Met
XM_011518147.1:c.364C>A	XP_011516449.1:p.Leu122Met
XR_929703.1:n.1668C>A
NM_001353193.1:c.1492C>A	NP_001340122.1:p.Leu498Met
NM_001353194.1:c.1264C>A	NP_001340123.1:p.Leu422Met
NM_001353195.1:c.1075C>A	NP_001340124.1:p.Leu359Met
NM_001353196.1:c.1336C>A	NP_001340125.1:p.Leu446Met
NM_001353197.1:c.1330C>A	NP_001340126.1:p.Leu444Met
NM_001353198.1:c.1330C>A	NP_001340127.1:p.Leu444Met
NM_001353199.1:c.1141C>A	NP_001340128.1:p.Leu381Met
NM_001353200.1:c.970C>A	NP_001340129.1:p.Leu324Met
NR_148391.1:n.1476C>A
NR_148392.1:n.1694C>A
NR_148393.1:n.1615C>A
NR_148394.1:n.1369C>A
NR_148395.1:n.1767C>A
NR_148396.1:n.1401C>A
NR_148397.1:n.1526C>A
NR_148398.1:n.1481C>A
NR_148399.1:n.2007C>A
NR_148400.1:n.1606C>A
XM_005272162.3:c.295C>A	XP_005272219.1:p.Leu99Met
XM_006716932.2:c.1141C>A	XP_006716995.1:p.Leu381Met
XM_011518140.2:c.1345C>A	XP_011516442.1:p.Leu449Met
XM_011518141.2:c.1279C>A	XP_011516443.1:p.Leu427Met
XM_011518142.2:c.1183C>A	XP_011516444.1:p.Leu395Met
XM_011518143.2:c.1177C>A	XP_011516445.1:p.Leu393Met
XM_011518145.2:c.1036C>A	XP_011516447.1:p.Leu346Met
XM_017014205.2:c.295C>A	XP_016869694.1:p.Leu99Met
XM_024447380.1:c.295C>A	XP_024303148.1:p.Leu99Met
XM_024447381.1:c.601C>A	XP_024303149.1:p.Leu201Met
XM_024447382.1:c.295C>A	XP_024303150.1:p.Leu99Met
XR_001746160.2:n.1596C>A
XR_001746162.2:n.1801C>A
XR_001746164.1:n.1518C>A
XR_001746166.2:n.1813C>A
NM_001077365.2:c.1426C>A MANE Select	NP_001070833.1:p.Leu476Met
NM_001077366.2:c.1264C>A	NP_001070834.1:p.Leu422Met
NM_001136113.2:c.1426C>A	NP_001129585.1:p.Leu476Met
NM_001136114.2:c.1075C>A	NP_001129586.1:p.Leu359Met
NM_001353193.2:c.1492C>A	NP_001340122.2:p.Leu498Met
NM_001353194.2:c.1264C>A	NP_001340123.1:p.Leu422Met
NM_001353195.2:c.1075C>A	NP_001340124.1:p.Leu359Met
NM_001353196.2:c.1336C>A	NP_001340125.1:p.Leu446Met
NM_001353197.2:c.1330C>A	NP_001340126.2:p.Leu444Met
NM_001353198.2:c.1330C>A	NP_001340127.2:p.Leu444Met
NM_001353199.2:c.1141C>A	NP_001340128.2:p.Leu381Met
NM_001353200.2:c.970C>A	NP_001340129.1:p.Leu324Met
NM_001374689.1:c.1414C>A	NP_001361618.1:p.Leu472Met
NM_001374690.1:c.1365+360C>A	NP_001361619.1:n.1365+360C>A
NM_001374691.1:c.1075C>A	NP_001361620.1:p.Leu359Met
NM_001374692.1:c.1075C>A	NP_001361621.1:p.Leu359Met
NM_001374693.1:c.1075C>A	NP_001361622.1:p.Leu359Met
NM_001374695.1:c.1036C>A	NP_001361624.1:p.Leu346Met
NM_007171.4:c.1492C>A	NP_009102.4:p.Leu498Met
NR_148391.2:n.1460C>A
NR_148392.2:n.1678C>A
NR_148393.2:n.1599C>A
NR_148394.2:n.1353C>A
NR_148395.2:n.1751C>A
NR_148396.2:n.1385C>A
NR_148397.2:n.1510C>A
NR_148398.2:n.1465C>A
NR_148399.2:n.1991C>A
NR_148400.2:n.1590C>A