Canonical Allele Identifier: CA375311949

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1003504
• ClinVar RCV Id: RCV001300065
• dbSNP Id: rs1949310812
• MyVariant Identifiers: chr9:g.134394284C>G (hg19) ; chr9:g.131518897C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1264C>G	ENSP00000343034.7:p.Leu422Val
ENST00000404875.7:n.1966C>G
ENST00000423007.6:c.1483C>G	ENSP00000404119.2:p.Leu495Val
ENST00000677295.2:c.*1770C>G	ENSP00000504346.2:n.*1770C>G
ENST00000678264.2:c.*1609C>G	ENSP00000503157.2:n.*1609C>G
ENST00000682070.1:n.1891C>G
ENST00000682539.1:c.364C>G
ENST00000682813.1:n.1830C>G
ENST00000683392.1:n.4173C>G
ENST00000683712.1:n.1831C>G
ENST00000683900.1:n.3326C>G
ENST00000684062.1:n.2092C>G
ENST00000684579.1:n.3272C>G
ENST00000684679.1:n.653C>G
ENST00000341012.12:c.1264C>G	ENSP00000343034.7:p.Leu422Val
ENST00000372220.5:c.295C>G	ENSP00000361294.5:p.Leu99Val
ENST00000372228.9:c.1492C>G	ENSP00000361302.3:p.Leu498Val
ENST00000402686.8:c.1426C>G MANE Select	ENSP00000385797.4:p.Leu476Val
ENST00000676640.1:c.1426C>G	ENSP00000503281.1:p.Leu476Val
ENST00000676803.1:c.601C>G	ENSP00000503093.1:p.Leu201Val
ENST00000676835.1:c.*641C>G	ENSP00000502911.1:n.*641C>G
ENST00000677029.1:c.970C>G	ENSP00000502936.1:p.Leu324Val
ENST00000677099.1:c.*1136C>G	ENSP00000504553.1:n.*1136C>G
ENST00000677216.1:c.1075C>G	ENSP00000503772.1:p.Leu359Val
ENST00000677221.1:n.451C>G
ENST00000677295.1:c.*803C>G	ENSP00000504346.1:n.*803C>G
ENST00000677444.1:c.1371C>G
ENST00000677586.1:n.907C>G
ENST00000677626.1:c.1075C>G	ENSP00000503552.1:p.Leu359Val
ENST00000677677.1:n.1386C>G
ENST00000677853.1:c.*434C>G	ENSP00000503488.1:n.*434C>G
ENST00000678202.1:n.585C>G
ENST00000678264.1:c.*803C>G	ENSP00000503157.1:n.*803C>G
ENST00000678303.1:c.1336C>G	ENSP00000503696.1:p.Leu446Val
ENST00000678366.1:c.*1675C>G	ENSP00000504353.1:n.*1675C>G
ENST00000678546.1:c.*1371C>G	ENSP00000503062.1:n.*1371C>G
ENST00000678548.1:c.*1498C>G	ENSP00000503934.1:n.*1498C>G
ENST00000678626.1:n.1262C>G
ENST00000678733.1:c.507C>G
ENST00000678739.1:c.*1752C>G	ENSP00000503806.1:n.*1752C>G
ENST00000678833.1:c.*873C>G	ENSP00000503893.1:n.*873C>G
ENST00000679023.1:c.1264C>G	ENSP00000503718.1:p.Leu422Val
ENST00000679076.1:c.1045C>G
ENST00000679111.1:c.*182C>G	ENSP00000504257.1:n.*182C>G
ENST00000679189.1:c.1075C>G	ENSP00000503356.1:p.Leu359Val
ENST00000341012.11:c.1264C>G	ENSP00000343034.7:p.Leu422Val
ENST00000372220.4:c.289C>G	ENSP00000361294.4:p.Leu97Val
ENST00000372228.7:c.1492C>G	ENSP00000361302.3:p.Leu498Val
ENST00000402686.7:c.1426C>G	ENSP00000385797.3:p.Leu476Val
ENST00000404875.6:c.1075C>G	ENSP00000384531.2:p.Leu359Val
ENST00000423007.5:c.1426C>G	ENSP00000404119.1:p.Leu476Val
ENST00000467848.1:n.130C>G
ENST00000485278.5:n.1981C>G
NM_001077365.1:c.1426C>G	NP_001070833.1:p.Leu476Val
NM_001077366.1:c.1264C>G	NP_001070834.1:p.Leu422Val
NM_001136113.1:c.1426C>G	NP_001129585.1:p.Leu476Val
NM_001136114.1:c.1075C>G	NP_001129586.1:p.Leu359Val
NM_007171.3:c.1492C>G	NP_009102.3:p.Leu498Val
XM_005272156.1:c.1492C>G	XP_005272213.1:p.Leu498Val
XM_005272158.1:c.1330C>G	XP_005272215.1:p.Leu444Val
XM_005272159.1:c.1141C>G	XP_005272216.1:p.Leu381Val
XM_005272162.1:c.295C>G	XP_005272219.1:p.Leu99Val
XM_006716932.1:c.1141C>G	XP_006716995.1:p.Leu381Val
XM_011518140.1:c.1345C>G	XP_011516442.1:p.Leu449Val
XM_011518141.1:c.1279C>G	XP_011516443.1:p.Leu427Val
XM_011518142.1:c.1183C>G	XP_011516444.1:p.Leu395Val
XM_011518143.1:c.1177C>G	XP_011516445.1:p.Leu393Val
XM_011518145.1:c.1036C>G	XP_011516447.1:p.Leu346Val
XM_011518147.1:c.364C>G	XP_011516449.1:p.Leu122Val
XR_929703.1:n.1668C>G
NM_001353193.1:c.1492C>G	NP_001340122.1:p.Leu498Val
NM_001353194.1:c.1264C>G	NP_001340123.1:p.Leu422Val
NM_001353195.1:c.1075C>G	NP_001340124.1:p.Leu359Val
NM_001353196.1:c.1336C>G	NP_001340125.1:p.Leu446Val
NM_001353197.1:c.1330C>G	NP_001340126.1:p.Leu444Val
NM_001353198.1:c.1330C>G	NP_001340127.1:p.Leu444Val
NM_001353199.1:c.1141C>G	NP_001340128.1:p.Leu381Val
NM_001353200.1:c.970C>G	NP_001340129.1:p.Leu324Val
NR_148391.1:n.1476C>G
NR_148392.1:n.1694C>G
NR_148393.1:n.1615C>G
NR_148394.1:n.1369C>G
NR_148395.1:n.1767C>G
NR_148396.1:n.1401C>G
NR_148397.1:n.1526C>G
NR_148398.1:n.1481C>G
NR_148399.1:n.2007C>G
NR_148400.1:n.1606C>G
XM_005272162.3:c.295C>G	XP_005272219.1:p.Leu99Val
XM_006716932.2:c.1141C>G	XP_006716995.1:p.Leu381Val
XM_011518140.2:c.1345C>G	XP_011516442.1:p.Leu449Val
XM_011518141.2:c.1279C>G	XP_011516443.1:p.Leu427Val
XM_011518142.2:c.1183C>G	XP_011516444.1:p.Leu395Val
XM_011518143.2:c.1177C>G	XP_011516445.1:p.Leu393Val
XM_011518145.2:c.1036C>G	XP_011516447.1:p.Leu346Val
XM_017014205.2:c.295C>G	XP_016869694.1:p.Leu99Val
XM_024447380.1:c.295C>G	XP_024303148.1:p.Leu99Val
XM_024447381.1:c.601C>G	XP_024303149.1:p.Leu201Val
XM_024447382.1:c.295C>G	XP_024303150.1:p.Leu99Val
XR_001746160.2:n.1596C>G
XR_001746162.2:n.1801C>G
XR_001746164.1:n.1518C>G
XR_001746166.2:n.1813C>G
NM_001077365.2:c.1426C>G MANE Select	NP_001070833.1:p.Leu476Val
NM_001077366.2:c.1264C>G	NP_001070834.1:p.Leu422Val
NM_001136113.2:c.1426C>G	NP_001129585.1:p.Leu476Val
NM_001136114.2:c.1075C>G	NP_001129586.1:p.Leu359Val
NM_001353193.2:c.1492C>G	NP_001340122.2:p.Leu498Val
NM_001353194.2:c.1264C>G	NP_001340123.1:p.Leu422Val
NM_001353195.2:c.1075C>G	NP_001340124.1:p.Leu359Val
NM_001353196.2:c.1336C>G	NP_001340125.1:p.Leu446Val
NM_001353197.2:c.1330C>G	NP_001340126.2:p.Leu444Val
NM_001353198.2:c.1330C>G	NP_001340127.2:p.Leu444Val
NM_001353199.2:c.1141C>G	NP_001340128.2:p.Leu381Val
NM_001353200.2:c.970C>G	NP_001340129.1:p.Leu324Val
NM_001374689.1:c.1414C>G	NP_001361618.1:p.Leu472Val
NM_001374690.1:c.1365+360C>G	NP_001361619.1:n.1365+360C>G
NM_001374691.1:c.1075C>G	NP_001361620.1:p.Leu359Val
NM_001374692.1:c.1075C>G	NP_001361621.1:p.Leu359Val
NM_001374693.1:c.1075C>G	NP_001361622.1:p.Leu359Val
NM_001374695.1:c.1036C>G	NP_001361624.1:p.Leu346Val
NM_007171.4:c.1492C>G	NP_009102.4:p.Leu498Val
NR_148391.2:n.1460C>G
NR_148392.2:n.1678C>G
NR_148393.2:n.1599C>G
NR_148394.2:n.1353C>G
NR_148395.2:n.1751C>G
NR_148396.2:n.1385C>G
NR_148397.2:n.1510C>G
NR_148398.2:n.1465C>G
NR_148399.2:n.1991C>G
NR_148400.2:n.1590C>G