Canonical Allele Identifier: CA375311240

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2228099
• ClinVar RCV Id: RCV002707432
• gnomAD v4: 9-131518478-T-A
• MyVariant Identifiers: chr9:g.134393865T>A (hg19) ; chr9:g.131518478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518478T>A , CM000671.2:g.131518478T>A	GRCh38
NC_000009.11:g.134393865T>A , CM000671.1:g.134393865T>A	GRCh37
NC_000009.10:g.133383686T>A	NCBI36
NG_008896.1:g.20577T>A
NG_008896.2:g.20577T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1144T>A	ENSP00000343034.7:p.Trp382Arg
ENST00000404875.7:n.1846T>A
ENST00000423007.6:c.1363T>A	ENSP00000404119.2:p.Trp455Arg
ENST00000677295.2:c.*1650T>A	ENSP00000504346.2:n.*1650T>A
ENST00000678264.2:c.*1489T>A	ENSP00000503157.2:n.*1489T>A
ENST00000682070.1:n.1771T>A
ENST00000682535.1:n.78T>A
ENST00000682539.1:c.244T>A
ENST00000682813.1:n.1571T>A
ENST00000683110.1:n.34T>A
ENST00000683392.1:n.4053T>A
ENST00000683712.1:n.1711T>A
ENST00000683900.1:n.3206T>A
ENST00000684062.1:n.1972T>A
ENST00000684579.1:n.3152T>A
ENST00000684679.1:n.533T>A
ENST00000341012.12:c.1144T>A	ENSP00000343034.7:p.Trp382Arg
ENST00000372220.5:c.175T>A	ENSP00000361294.5:p.Trp59Arg
ENST00000372228.9:c.1372T>A	ENSP00000361302.3:p.Trp458Arg
ENST00000402686.8:c.1306T>A MANE Select	ENSP00000385797.4:p.Trp436Arg
ENST00000676640.1:c.1306T>A	ENSP00000503281.1:p.Trp436Arg
ENST00000676803.1:c.481T>A	ENSP00000503093.1:p.Trp161Arg
ENST00000676835.1:c.*521T>A	ENSP00000502911.1:n.*521T>A
ENST00000677029.1:c.850T>A	ENSP00000502936.1:p.Trp284Arg
ENST00000677099.1:c.*1016T>A	ENSP00000504553.1:n.*1016T>A
ENST00000677216.1:c.955T>A	ENSP00000503772.1:p.Trp319Arg
ENST00000677221.1:n.331T>A
ENST00000677295.1:c.*683T>A	ENSP00000504346.1:n.*683T>A
ENST00000677444.1:c.1112T>A
ENST00000677586.1:n.787T>A
ENST00000677626.1:c.955T>A	ENSP00000503552.1:p.Trp319Arg
ENST00000677677.1:n.1266T>A
ENST00000677853.1:c.*314T>A	ENSP00000503488.1:n.*314T>A
ENST00000677983.1:n.395T>A
ENST00000678202.1:n.326T>A
ENST00000678264.1:c.*683T>A	ENSP00000503157.1:n.*683T>A
ENST00000678303.1:c.1216T>A	ENSP00000503696.1:p.Trp406Arg
ENST00000678366.1:c.*1555T>A	ENSP00000504353.1:n.*1555T>A
ENST00000678546.1:c.*1251T>A	ENSP00000503062.1:n.*1251T>A
ENST00000678548.1:c.*1378T>A	ENSP00000503934.1:n.*1378T>A
ENST00000678626.1:n.1003T>A
ENST00000678733.1:c.387T>A
ENST00000678739.1:c.*1632T>A	ENSP00000503806.1:n.*1632T>A
ENST00000678795.1:n.393T>A
ENST00000678833.1:c.*753T>A	ENSP00000503893.1:n.*753T>A
ENST00000678942.1:c.486T>A	ENSP00000504690.1:n.486T>A
ENST00000679023.1:c.1144T>A	ENSP00000503718.1:p.Trp382Arg
ENST00000679076.1:c.925T>A
ENST00000679111.1:c.1306T>A	ENSP00000504257.1:p.Trp436Arg
ENST00000679189.1:c.955T>A	ENSP00000503356.1:p.Trp319Arg
ENST00000341012.11:c.1144T>A	ENSP00000343034.7:p.Trp382Arg
ENST00000372220.4:c.169T>A	ENSP00000361294.4:p.Trp57Arg
ENST00000372228.7:c.1372T>A	ENSP00000361302.3:p.Trp458Arg
ENST00000402686.7:c.1306T>A	ENSP00000385797.3:p.Trp436Arg
ENST00000404875.6:c.955T>A	ENSP00000384531.2:p.Trp319Arg
ENST00000423007.5:c.1306T>A	ENSP00000404119.1:p.Trp436Arg
ENST00000485278.5:n.1861T>A
NM_001077365.1:c.1306T>A	NP_001070833.1:p.Trp436Arg
NM_001077366.1:c.1144T>A	NP_001070834.1:p.Trp382Arg
NM_001136113.1:c.1306T>A	NP_001129585.1:p.Trp436Arg
NM_001136114.1:c.955T>A	NP_001129586.1:p.Trp319Arg
NM_007171.3:c.1372T>A	NP_009102.3:p.Trp458Arg
XM_005272156.1:c.1372T>A	XP_005272213.1:p.Trp458Arg
XM_005272158.1:c.1210T>A	XP_005272215.1:p.Trp404Arg
XM_005272159.1:c.1021T>A	XP_005272216.1:p.Trp341Arg
XM_005272162.1:c.175T>A	XP_005272219.1:p.Trp59Arg
XM_006716932.1:c.1021T>A	XP_006716995.1:p.Trp341Arg
XM_011518140.1:c.1225T>A	XP_011516442.1:p.Trp409Arg
XM_011518141.1:c.1159T>A	XP_011516443.1:p.Trp387Arg
XM_011518142.1:c.1063T>A	XP_011516444.1:p.Trp355Arg
XM_011518143.1:c.1057T>A	XP_011516445.1:p.Trp353Arg
XM_011518144.1:c.1372T>A	XP_011516446.1:p.Trp458Arg
XM_011518145.1:c.916T>A	XP_011516447.1:p.Trp306Arg
XM_011518146.1:c.1057T>A	XP_011516448.1:p.Trp353Arg
XM_011518147.1:c.244T>A	XP_011516449.1:p.Trp82Arg
XR_929703.1:n.1548T>A
NM_001353193.1:c.1372T>A	NP_001340122.1:p.Trp458Arg
NM_001353194.1:c.1144T>A	NP_001340123.1:p.Trp382Arg
NM_001353195.1:c.955T>A	NP_001340124.1:p.Trp319Arg
NM_001353196.1:c.1216T>A	NP_001340125.1:p.Trp406Arg
NM_001353197.1:c.1210T>A	NP_001340126.1:p.Trp404Arg
NM_001353198.1:c.1210T>A	NP_001340127.1:p.Trp404Arg
NM_001353199.1:c.1021T>A	NP_001340128.1:p.Trp341Arg
NM_001353200.1:c.850T>A	NP_001340129.1:p.Trp284Arg
NR_148391.1:n.1356T>A
NR_148392.1:n.1574T>A
NR_148393.1:n.1356T>A
NR_148394.1:n.1249T>A
NR_148395.1:n.1508T>A
NR_148396.1:n.1142T>A
NR_148397.1:n.1406T>A
NR_148398.1:n.1361T>A
NR_148399.1:n.1748T>A
NR_148400.1:n.1347T>A
XM_005272162.3:c.175T>A	XP_005272219.1:p.Trp59Arg
XM_006716932.2:c.1021T>A	XP_006716995.1:p.Trp341Arg
XM_011518140.2:c.1225T>A	XP_011516442.1:p.Trp409Arg
XM_011518141.2:c.1159T>A	XP_011516443.1:p.Trp387Arg
XM_011518142.2:c.1063T>A	XP_011516444.1:p.Trp355Arg
XM_011518143.2:c.1057T>A	XP_011516445.1:p.Trp353Arg
XM_011518145.2:c.916T>A	XP_011516447.1:p.Trp306Arg
XM_017014205.2:c.175T>A	XP_016869694.1:p.Trp59Arg
XM_024447380.1:c.175T>A	XP_024303148.1:p.Trp59Arg
XM_024447381.1:c.481T>A	XP_024303149.1:p.Trp161Arg
XM_024447382.1:c.175T>A	XP_024303150.1:p.Trp59Arg
XR_001746160.2:n.1476T>A
XR_001746162.2:n.1542T>A
XR_001746164.1:n.1259T>A
XR_001746166.2:n.1693T>A
NM_001077365.2:c.1306T>A MANE Select	NP_001070833.1:p.Trp436Arg
NM_001077366.2:c.1144T>A	NP_001070834.1:p.Trp382Arg
NM_001136113.2:c.1306T>A	NP_001129585.1:p.Trp436Arg
NM_001136114.2:c.955T>A	NP_001129586.1:p.Trp319Arg
NM_001353193.2:c.1372T>A	NP_001340122.2:p.Trp458Arg
NM_001353194.2:c.1144T>A	NP_001340123.1:p.Trp382Arg
NM_001353195.2:c.955T>A	NP_001340124.1:p.Trp319Arg
NM_001353196.2:c.1216T>A	NP_001340125.1:p.Trp406Arg
NM_001353197.2:c.1210T>A	NP_001340126.2:p.Trp404Arg
NM_001353198.2:c.1210T>A	NP_001340127.2:p.Trp404Arg
NM_001353199.2:c.1021T>A	NP_001340128.2:p.Trp341Arg
NM_001353200.2:c.850T>A	NP_001340129.1:p.Trp284Arg
NM_001374689.1:c.1294T>A	NP_001361618.1:p.Trp432Arg
NM_001374690.1:c.1306T>A	NP_001361619.1:p.Trp436Arg
NM_001374691.1:c.955T>A	NP_001361620.1:p.Trp319Arg
NM_001374692.1:c.955T>A	NP_001361621.1:p.Trp319Arg
NM_001374693.1:c.955T>A	NP_001361622.1:p.Trp319Arg
NM_001374695.1:c.916T>A	NP_001361624.1:p.Trp306Arg
NM_007171.4:c.1372T>A	NP_009102.4:p.Trp458Arg
NR_148391.2:n.1340T>A
NR_148392.2:n.1558T>A
NR_148393.2:n.1340T>A
NR_148394.2:n.1233T>A
NR_148395.2:n.1492T>A
NR_148396.2:n.1126T>A
NR_148397.2:n.1390T>A
NR_148398.2:n.1345T>A
NR_148399.2:n.1732T>A
NR_148400.2:n.1331T>A