Canonical Allele Identifier: CA375311938

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394281A>G (hg19) ; chr9:g.131518894A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518894A>G , CM000671.2:g.131518894A>G	GRCh38
NC_000009.11:g.134394281A>G , CM000671.1:g.134394281A>G	GRCh37
NC_000009.10:g.133384102A>G	NCBI36
NG_008896.1:g.20993A>G
NG_008896.2:g.20993A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1261A>G	ENSP00000343034.7:p.Lys421Glu
ENST00000404875.7:n.1963A>G
ENST00000423007.6:c.1480A>G	ENSP00000404119.2:p.Lys494Glu
ENST00000677295.2:c.*1767A>G	ENSP00000504346.2:n.*1767A>G
ENST00000678264.2:c.*1606A>G	ENSP00000503157.2:n.*1606A>G
ENST00000682070.1:n.1888A>G
ENST00000682539.1:c.361A>G
ENST00000682813.1:n.1827A>G
ENST00000683392.1:n.4170A>G
ENST00000683712.1:n.1828A>G
ENST00000683900.1:n.3323A>G
ENST00000684062.1:n.2089A>G
ENST00000684579.1:n.3269A>G
ENST00000684679.1:n.650A>G
ENST00000341012.12:c.1261A>G	ENSP00000343034.7:p.Lys421Glu
ENST00000372220.5:c.292A>G	ENSP00000361294.5:p.Lys98Glu
ENST00000372228.9:c.1489A>G	ENSP00000361302.3:p.Lys497Glu
ENST00000402686.8:c.1423A>G MANE Select	ENSP00000385797.4:p.Lys475Glu
ENST00000676640.1:c.1423A>G	ENSP00000503281.1:p.Lys475Glu
ENST00000676803.1:c.598A>G	ENSP00000503093.1:p.Lys200Glu
ENST00000676835.1:c.*638A>G	ENSP00000502911.1:n.*638A>G
ENST00000677029.1:c.967A>G	ENSP00000502936.1:p.Lys323Glu
ENST00000677099.1:c.*1133A>G	ENSP00000504553.1:n.*1133A>G
ENST00000677216.1:c.1072A>G	ENSP00000503772.1:p.Lys358Glu
ENST00000677221.1:n.448A>G
ENST00000677295.1:c.*800A>G	ENSP00000504346.1:n.*800A>G
ENST00000677444.1:c.1368A>G
ENST00000677586.1:n.904A>G
ENST00000677626.1:c.1072A>G	ENSP00000503552.1:p.Lys358Glu
ENST00000677677.1:n.1383A>G
ENST00000677853.1:c.*431A>G	ENSP00000503488.1:n.*431A>G
ENST00000678202.1:n.582A>G
ENST00000678264.1:c.*800A>G	ENSP00000503157.1:n.*800A>G
ENST00000678303.1:c.1333A>G	ENSP00000503696.1:p.Lys445Glu
ENST00000678366.1:c.*1672A>G	ENSP00000504353.1:n.*1672A>G
ENST00000678546.1:c.*1368A>G	ENSP00000503062.1:n.*1368A>G
ENST00000678548.1:c.*1495A>G	ENSP00000503934.1:n.*1495A>G
ENST00000678626.1:n.1259A>G
ENST00000678733.1:c.504A>G
ENST00000678739.1:c.*1749A>G	ENSP00000503806.1:n.*1749A>G
ENST00000678833.1:c.*870A>G	ENSP00000503893.1:n.*870A>G
ENST00000679023.1:c.1261A>G	ENSP00000503718.1:p.Lys421Glu
ENST00000679076.1:c.1042A>G
ENST00000679111.1:c.*179A>G	ENSP00000504257.1:n.*179A>G
ENST00000679189.1:c.1072A>G	ENSP00000503356.1:p.Lys358Glu
ENST00000341012.11:c.1261A>G	ENSP00000343034.7:p.Lys421Glu
ENST00000372220.4:c.286A>G	ENSP00000361294.4:p.Lys96Glu
ENST00000372228.7:c.1489A>G	ENSP00000361302.3:p.Lys497Glu
ENST00000402686.7:c.1423A>G	ENSP00000385797.3:p.Lys475Glu
ENST00000404875.6:c.1072A>G	ENSP00000384531.2:p.Lys358Glu
ENST00000423007.5:c.1423A>G	ENSP00000404119.1:p.Lys475Glu
ENST00000467848.1:n.127A>G
ENST00000485278.5:n.1978A>G
NM_001077365.1:c.1423A>G	NP_001070833.1:p.Lys475Glu
NM_001077366.1:c.1261A>G	NP_001070834.1:p.Lys421Glu
NM_001136113.1:c.1423A>G	NP_001129585.1:p.Lys475Glu
NM_001136114.1:c.1072A>G	NP_001129586.1:p.Lys358Glu
NM_007171.3:c.1489A>G	NP_009102.3:p.Lys497Glu
XM_005272156.1:c.1489A>G	XP_005272213.1:p.Lys497Glu
XM_005272158.1:c.1327A>G	XP_005272215.1:p.Lys443Glu
XM_005272159.1:c.1138A>G	XP_005272216.1:p.Lys380Glu
XM_005272162.1:c.292A>G	XP_005272219.1:p.Lys98Glu
XM_006716932.1:c.1138A>G	XP_006716995.1:p.Lys380Glu
XM_011518140.1:c.1342A>G	XP_011516442.1:p.Lys448Glu
XM_011518141.1:c.1276A>G	XP_011516443.1:p.Lys426Glu
XM_011518142.1:c.1180A>G	XP_011516444.1:p.Lys394Glu
XM_011518143.1:c.1174A>G	XP_011516445.1:p.Lys392Glu
XM_011518145.1:c.1033A>G	XP_011516447.1:p.Lys345Glu
XM_011518147.1:c.361A>G	XP_011516449.1:p.Lys121Glu
XR_929703.1:n.1665A>G
NM_001353193.1:c.1489A>G	NP_001340122.1:p.Lys497Glu
NM_001353194.1:c.1261A>G	NP_001340123.1:p.Lys421Glu
NM_001353195.1:c.1072A>G	NP_001340124.1:p.Lys358Glu
NM_001353196.1:c.1333A>G	NP_001340125.1:p.Lys445Glu
NM_001353197.1:c.1327A>G	NP_001340126.1:p.Lys443Glu
NM_001353198.1:c.1327A>G	NP_001340127.1:p.Lys443Glu
NM_001353199.1:c.1138A>G	NP_001340128.1:p.Lys380Glu
NM_001353200.1:c.967A>G	NP_001340129.1:p.Lys323Glu
NR_148391.1:n.1473A>G
NR_148392.1:n.1691A>G
NR_148393.1:n.1612A>G
NR_148394.1:n.1366A>G
NR_148395.1:n.1764A>G
NR_148396.1:n.1398A>G
NR_148397.1:n.1523A>G
NR_148398.1:n.1478A>G
NR_148399.1:n.2004A>G
NR_148400.1:n.1603A>G
XM_005272162.3:c.292A>G	XP_005272219.1:p.Lys98Glu
XM_006716932.2:c.1138A>G	XP_006716995.1:p.Lys380Glu
XM_011518140.2:c.1342A>G	XP_011516442.1:p.Lys448Glu
XM_011518141.2:c.1276A>G	XP_011516443.1:p.Lys426Glu
XM_011518142.2:c.1180A>G	XP_011516444.1:p.Lys394Glu
XM_011518143.2:c.1174A>G	XP_011516445.1:p.Lys392Glu
XM_011518145.2:c.1033A>G	XP_011516447.1:p.Lys345Glu
XM_017014205.2:c.292A>G	XP_016869694.1:p.Lys98Glu
XM_024447380.1:c.292A>G	XP_024303148.1:p.Lys98Glu
XM_024447381.1:c.598A>G	XP_024303149.1:p.Lys200Glu
XM_024447382.1:c.292A>G	XP_024303150.1:p.Lys98Glu
XR_001746160.2:n.1593A>G
XR_001746162.2:n.1798A>G
XR_001746164.1:n.1515A>G
XR_001746166.2:n.1810A>G
NM_001077365.2:c.1423A>G MANE Select	NP_001070833.1:p.Lys475Glu
NM_001077366.2:c.1261A>G	NP_001070834.1:p.Lys421Glu
NM_001136113.2:c.1423A>G	NP_001129585.1:p.Lys475Glu
NM_001136114.2:c.1072A>G	NP_001129586.1:p.Lys358Glu
NM_001353193.2:c.1489A>G	NP_001340122.2:p.Lys497Glu
NM_001353194.2:c.1261A>G	NP_001340123.1:p.Lys421Glu
NM_001353195.2:c.1072A>G	NP_001340124.1:p.Lys358Glu
NM_001353196.2:c.1333A>G	NP_001340125.1:p.Lys445Glu
NM_001353197.2:c.1327A>G	NP_001340126.2:p.Lys443Glu
NM_001353198.2:c.1327A>G	NP_001340127.2:p.Lys443Glu
NM_001353199.2:c.1138A>G	NP_001340128.2:p.Lys380Glu
NM_001353200.2:c.967A>G	NP_001340129.1:p.Lys323Glu
NM_001374689.1:c.1411A>G	NP_001361618.1:p.Lys471Glu
NM_001374690.1:c.1365+357A>G	NP_001361619.1:n.1365+357A>G
NM_001374691.1:c.1072A>G	NP_001361620.1:p.Lys358Glu
NM_001374692.1:c.1072A>G	NP_001361621.1:p.Lys358Glu
NM_001374693.1:c.1072A>G	NP_001361622.1:p.Lys358Glu
NM_001374695.1:c.1033A>G	NP_001361624.1:p.Lys345Glu
NM_007171.4:c.1489A>G	NP_009102.4:p.Lys497Glu
NR_148391.2:n.1457A>G
NR_148392.2:n.1675A>G
NR_148393.2:n.1596A>G
NR_148394.2:n.1350A>G
NR_148395.2:n.1748A>G
NR_148396.2:n.1382A>G
NR_148397.2:n.1507A>G
NR_148398.2:n.1462A>G
NR_148399.2:n.1988A>G
NR_148400.2:n.1587A>G