Canonical Allele Identifier: CA375308540

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134386791G>T (hg19) ; chr9:g.131511404G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511404G>T , CM000671.2:g.131511404G>T	GRCh38
NC_000009.11:g.134386791G>T , CM000671.1:g.134386791G>T	GRCh37
NC_000009.10:g.133376612G>T	NCBI36
NG_008896.1:g.13503G>T
NG_008896.2:g.13503G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.761G>T	ENSP00000343034.7:p.Arg254Met
ENST00000404875.7:n.1295G>T
ENST00000423007.6:c.980G>T	ENSP00000404119.2:p.Arg327Met
ENST00000677295.2:c.*1262G>T	ENSP00000504346.2:n.*1262G>T
ENST00000678264.2:c.*1106G>T	ENSP00000503157.2:n.*1106G>T
ENST00000678942.2:c.*476G>T	ENSP00000504690.2:n.*476G>T
ENST00000682070.1:n.1383G>T
ENST00000682813.1:n.1188G>T
ENST00000683134.1:c.290G>T
ENST00000683392.1:n.3670G>T
ENST00000683712.1:n.1323G>T
ENST00000683900.1:n.2250G>T
ENST00000684062.1:n.1589G>T
ENST00000684579.1:n.2764G>T
ENST00000341012.12:c.761G>T	ENSP00000343034.7:p.Arg254Met
ENST00000372220.5:c.-145-637G>T	ENSP00000361294.5:n.-145-637G>T
ENST00000372228.9:c.989G>T	ENSP00000361302.3:p.Arg330Met
ENST00000402686.8:c.923G>T MANE Select	ENSP00000385797.4:p.Arg308Met
ENST00000415075.6:c.*376G>T	ENSP00000405149.2:n.*376G>T
ENST00000676640.1:c.923G>T	ENSP00000503281.1:p.Arg308Met
ENST00000676803.1:c.98G>T	ENSP00000503093.1:p.Arg33Met
ENST00000676835.1:c.*133G>T	ENSP00000502911.1:n.*133G>T
ENST00000677029.1:c.467G>T	ENSP00000502936.1:p.Arg156Met
ENST00000677099.1:c.*633G>T	ENSP00000504553.1:n.*633G>T
ENST00000677216.1:c.572G>T	ENSP00000503772.1:p.Arg191Met
ENST00000677293.1:c.98G>T	ENSP00000504278.1:p.Arg33Met
ENST00000677295.1:c.*295G>T	ENSP00000504346.1:n.*295G>T
ENST00000677444.1:c.729G>T
ENST00000677586.1:n.404G>T
ENST00000677626.1:c.761G>T	ENSP00000503552.1:p.Arg254Met
ENST00000677677.1:n.883G>T
ENST00000677853.1:c.504G>T	ENSP00000503488.1:p.Glu168Asp
ENST00000677944.1:c.185G>T
ENST00000678264.1:c.*295G>T	ENSP00000503157.1:n.*295G>T
ENST00000678303.1:c.833G>T	ENSP00000503696.1:p.Arg278Met
ENST00000678366.1:c.*1172G>T	ENSP00000504353.1:n.*1172G>T
ENST00000678546.1:c.*295G>T	ENSP00000503062.1:n.*295G>T
ENST00000678548.1:c.*990G>T	ENSP00000503934.1:n.*990G>T
ENST00000678626.1:n.615G>T
ENST00000678707.1:n.561G>T
ENST00000678733.1:c.97G>T
ENST00000678739.1:c.*1244G>T	ENSP00000503806.1:n.*1244G>T
ENST00000678833.1:c.*370G>T	ENSP00000503893.1:n.*370G>T
ENST00000678942.1:c.98G>T	ENSP00000504690.1:p.Arg33Met
ENST00000679023.1:c.761G>T	ENSP00000503718.1:p.Arg254Met
ENST00000679073.1:c.301G>T	ENSP00000504356.1:n.301G>T
ENST00000679076.1:c.537G>T
ENST00000679111.1:c.923G>T	ENSP00000504257.1:p.Arg308Met
ENST00000679189.1:c.572G>T	ENSP00000503356.1:p.Arg191Met
ENST00000341012.11:c.761G>T	ENSP00000343034.7:p.Arg254Met
ENST00000372228.7:c.989G>T	ENSP00000361302.3:p.Arg330Met
ENST00000402686.7:c.923G>T	ENSP00000385797.3:p.Arg308Met
ENST00000404875.6:c.572G>T	ENSP00000384531.2:p.Arg191Met
ENST00000415075.5:c.315G>T	ENSP00000405149.1:p.Glu105Asp
ENST00000423007.5:c.923G>T	ENSP00000404119.1:p.Arg308Met
ENST00000441334.5:c.638G>T	ENSP00000395060.1:p.Arg213Met
ENST00000462375.5:n.744G>T
ENST00000485278.5:n.905G>T
NM_001077365.1:c.923G>T	NP_001070833.1:p.Arg308Met
NM_001077366.1:c.761G>T	NP_001070834.1:p.Arg254Met
NM_001136113.1:c.923G>T	NP_001129585.1:p.Arg308Met
NM_001136114.1:c.572G>T	NP_001129586.1:p.Arg191Met
NM_007171.3:c.989G>T	NP_009102.3:p.Arg330Met
XM_005272156.1:c.989G>T	XP_005272213.1:p.Arg330Met
XM_005272158.1:c.827G>T	XP_005272215.1:p.Arg276Met
XM_005272159.1:c.638G>T	XP_005272216.1:p.Arg213Met
XM_005272162.1:c.-214G>T	XP_005272219.1:n.-214G>T
XM_006716932.1:c.638G>T	XP_006716995.1:p.Arg213Met
XM_011518140.1:c.842G>T	XP_011516442.1:p.Arg281Met
XM_011518141.1:c.776G>T	XP_011516443.1:p.Arg259Met
XM_011518142.1:c.680G>T	XP_011516444.1:p.Arg227Met
XM_011518143.1:c.669G>T	XP_011516445.1:p.Glu223Asp
XM_011518144.1:c.989G>T	XP_011516446.1:p.Arg330Met
XM_011518145.1:c.533G>T	XP_011516447.1:p.Arg178Met
XM_011518146.1:c.669G>T	XP_011516448.1:p.Glu223Asp
XR_929703.1:n.1165G>T
NM_001353193.1:c.989G>T	NP_001340122.1:p.Arg330Met
NM_001353194.1:c.761G>T	NP_001340123.1:p.Arg254Met
NM_001353195.1:c.572G>T	NP_001340124.1:p.Arg191Met
NM_001353196.1:c.833G>T	NP_001340125.1:p.Arg278Met
NM_001353197.1:c.827G>T	NP_001340126.1:p.Arg276Met
NM_001353198.1:c.827G>T	NP_001340127.1:p.Arg276Met
NM_001353199.1:c.638G>T	NP_001340128.1:p.Arg213Met
NM_001353200.1:c.467G>T	NP_001340129.1:p.Arg156Met
NR_148391.1:n.973G>T
NR_148392.1:n.1191G>T
NR_148393.1:n.973G>T
NR_148394.1:n.861G>T
NR_148395.1:n.1125G>T
NR_148396.1:n.754G>T
NR_148397.1:n.1018G>T
NR_148398.1:n.973G>T
NR_148399.1:n.1365G>T
NR_148400.1:n.959G>T
XM_005272162.3:c.-214G>T	XP_005272219.1:n.-214G>T
XM_006716932.2:c.638G>T	XP_006716995.1:p.Arg213Met
XM_011518140.2:c.842G>T	XP_011516442.1:p.Arg281Met
XM_011518141.2:c.776G>T	XP_011516443.1:p.Arg259Met
XM_011518142.2:c.680G>T	XP_011516444.1:p.Arg227Met
XM_011518143.2:c.669G>T	XP_011516445.1:p.Glu223Asp
XM_011518145.2:c.533G>T	XP_011516447.1:p.Arg178Met
XM_017014205.2:c.-214G>T	XP_016869694.1:n.-214G>T
XM_024447380.1:c.-214G>T	XP_024303148.1:n.-214G>T
XM_024447381.1:c.98G>T	XP_024303149.1:p.Arg33Met
XM_024447382.1:c.-214G>T	XP_024303150.1:n.-214G>T
XR_001746160.2:n.1093G>T
XR_001746162.2:n.1159G>T
XR_001746164.1:n.871G>T
XR_001746166.2:n.1310G>T
NM_001077365.2:c.923G>T MANE Select	NP_001070833.1:p.Arg308Met
NM_001077366.2:c.761G>T	NP_001070834.1:p.Arg254Met
NM_001136113.2:c.923G>T	NP_001129585.1:p.Arg308Met
NM_001136114.2:c.572G>T	NP_001129586.1:p.Arg191Met
NM_001353193.2:c.989G>T	NP_001340122.2:p.Arg330Met
NM_001353194.2:c.761G>T	NP_001340123.1:p.Arg254Met
NM_001353195.2:c.572G>T	NP_001340124.1:p.Arg191Met
NM_001353196.2:c.833G>T	NP_001340125.1:p.Arg278Met
NM_001353197.2:c.827G>T	NP_001340126.2:p.Arg276Met
NM_001353198.2:c.827G>T	NP_001340127.2:p.Arg276Met
NM_001353199.2:c.638G>T	NP_001340128.2:p.Arg213Met
NM_001353200.2:c.467G>T	NP_001340129.1:p.Arg156Met
NM_001374689.1:c.906G>T	NP_001361618.1:p.Glu302Asp
NM_001374690.1:c.923G>T	NP_001361619.1:p.Arg308Met
NM_001374691.1:c.572G>T	NP_001361620.1:p.Arg191Met
NM_001374692.1:c.572G>T	NP_001361621.1:p.Arg191Met
NM_001374693.1:c.761G>T	NP_001361622.1:p.Arg254Met
NM_001374695.1:c.533G>T	NP_001361624.1:p.Arg178Met
NM_007171.4:c.989G>T	NP_009102.4:p.Arg330Met
NR_148391.2:n.957G>T
NR_148392.2:n.1175G>T
NR_148393.2:n.957G>T
NR_148394.2:n.845G>T
NR_148395.2:n.1109G>T
NR_148396.2:n.738G>T
NR_148397.2:n.1002G>T
NR_148398.2:n.957G>T
NR_148399.2:n.1349G>T
NR_148400.2:n.943G>T