Canonical Allele Identifier: CA375311256

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393868A>G (hg19) ; chr9:g.131518481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518481A>G , CM000671.2:g.131518481A>G	GRCh38
NC_000009.11:g.134393868A>G , CM000671.1:g.134393868A>G	GRCh37
NC_000009.10:g.133383689A>G	NCBI36
NG_008896.1:g.20580A>G
NG_008896.2:g.20580A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1147A>G	ENSP00000343034.7:p.Lys383Glu
ENST00000404875.7:n.1849A>G
ENST00000423007.6:c.1366A>G	ENSP00000404119.2:p.Lys456Glu
ENST00000677295.2:c.*1653A>G	ENSP00000504346.2:n.*1653A>G
ENST00000678264.2:c.*1492A>G	ENSP00000503157.2:n.*1492A>G
ENST00000682070.1:n.1774A>G
ENST00000682535.1:n.81A>G
ENST00000682539.1:c.247A>G
ENST00000682813.1:n.1574A>G
ENST00000683110.1:n.37A>G
ENST00000683392.1:n.4056A>G
ENST00000683712.1:n.1714A>G
ENST00000683900.1:n.3209A>G
ENST00000684062.1:n.1975A>G
ENST00000684579.1:n.3155A>G
ENST00000684679.1:n.536A>G
ENST00000341012.12:c.1147A>G	ENSP00000343034.7:p.Lys383Glu
ENST00000372220.5:c.178A>G	ENSP00000361294.5:p.Lys60Glu
ENST00000372228.9:c.1375A>G	ENSP00000361302.3:p.Lys459Glu
ENST00000402686.8:c.1309A>G MANE Select	ENSP00000385797.4:p.Lys437Glu
ENST00000676640.1:c.1309A>G	ENSP00000503281.1:p.Lys437Glu
ENST00000676803.1:c.484A>G	ENSP00000503093.1:p.Lys162Glu
ENST00000676835.1:c.*524A>G	ENSP00000502911.1:n.*524A>G
ENST00000677029.1:c.853A>G	ENSP00000502936.1:p.Lys285Glu
ENST00000677099.1:c.*1019A>G	ENSP00000504553.1:n.*1019A>G
ENST00000677216.1:c.958A>G	ENSP00000503772.1:p.Lys320Glu
ENST00000677221.1:n.334A>G
ENST00000677295.1:c.*686A>G	ENSP00000504346.1:n.*686A>G
ENST00000677444.1:c.1115A>G
ENST00000677586.1:n.790A>G
ENST00000677626.1:c.958A>G	ENSP00000503552.1:p.Lys320Glu
ENST00000677677.1:n.1269A>G
ENST00000677853.1:c.*317A>G	ENSP00000503488.1:n.*317A>G
ENST00000677983.1:n.398A>G
ENST00000678202.1:n.329A>G
ENST00000678264.1:c.*686A>G	ENSP00000503157.1:n.*686A>G
ENST00000678303.1:c.1219A>G	ENSP00000503696.1:p.Lys407Glu
ENST00000678366.1:c.*1558A>G	ENSP00000504353.1:n.*1558A>G
ENST00000678546.1:c.*1254A>G	ENSP00000503062.1:n.*1254A>G
ENST00000678548.1:c.*1381A>G	ENSP00000503934.1:n.*1381A>G
ENST00000678626.1:n.1006A>G
ENST00000678733.1:c.390A>G
ENST00000678739.1:c.*1635A>G	ENSP00000503806.1:n.*1635A>G
ENST00000678795.1:n.396A>G
ENST00000678833.1:c.*756A>G	ENSP00000503893.1:n.*756A>G
ENST00000678942.1:c.489A>G	ENSP00000504690.1:n.489A>G
ENST00000679023.1:c.1147A>G	ENSP00000503718.1:p.Lys383Glu
ENST00000679076.1:c.928A>G
ENST00000679111.1:c.1309A>G	ENSP00000504257.1:p.Lys437Glu
ENST00000679189.1:c.958A>G	ENSP00000503356.1:p.Lys320Glu
ENST00000341012.11:c.1147A>G	ENSP00000343034.7:p.Lys383Glu
ENST00000372220.4:c.172A>G	ENSP00000361294.4:p.Lys58Glu
ENST00000372228.7:c.1375A>G	ENSP00000361302.3:p.Lys459Glu
ENST00000402686.7:c.1309A>G	ENSP00000385797.3:p.Lys437Glu
ENST00000404875.6:c.958A>G	ENSP00000384531.2:p.Lys320Glu
ENST00000423007.5:c.1309A>G	ENSP00000404119.1:p.Lys437Glu
ENST00000485278.5:n.1864A>G
NM_001077365.1:c.1309A>G	NP_001070833.1:p.Lys437Glu
NM_001077366.1:c.1147A>G	NP_001070834.1:p.Lys383Glu
NM_001136113.1:c.1309A>G	NP_001129585.1:p.Lys437Glu
NM_001136114.1:c.958A>G	NP_001129586.1:p.Lys320Glu
NM_007171.3:c.1375A>G	NP_009102.3:p.Lys459Glu
XM_005272156.1:c.1375A>G	XP_005272213.1:p.Lys459Glu
XM_005272158.1:c.1213A>G	XP_005272215.1:p.Lys405Glu
XM_005272159.1:c.1024A>G	XP_005272216.1:p.Lys342Glu
XM_005272162.1:c.178A>G	XP_005272219.1:p.Lys60Glu
XM_006716932.1:c.1024A>G	XP_006716995.1:p.Lys342Glu
XM_011518140.1:c.1228A>G	XP_011516442.1:p.Lys410Glu
XM_011518141.1:c.1162A>G	XP_011516443.1:p.Lys388Glu
XM_011518142.1:c.1066A>G	XP_011516444.1:p.Lys356Glu
XM_011518143.1:c.1060A>G	XP_011516445.1:p.Lys354Glu
XM_011518144.1:c.1375A>G	XP_011516446.1:p.Lys459Glu
XM_011518145.1:c.919A>G	XP_011516447.1:p.Lys307Glu
XM_011518146.1:c.1060A>G	XP_011516448.1:p.Lys354Glu
XM_011518147.1:c.247A>G	XP_011516449.1:p.Lys83Glu
XR_929703.1:n.1551A>G
NM_001353193.1:c.1375A>G	NP_001340122.1:p.Lys459Glu
NM_001353194.1:c.1147A>G	NP_001340123.1:p.Lys383Glu
NM_001353195.1:c.958A>G	NP_001340124.1:p.Lys320Glu
NM_001353196.1:c.1219A>G	NP_001340125.1:p.Lys407Glu
NM_001353197.1:c.1213A>G	NP_001340126.1:p.Lys405Glu
NM_001353198.1:c.1213A>G	NP_001340127.1:p.Lys405Glu
NM_001353199.1:c.1024A>G	NP_001340128.1:p.Lys342Glu
NM_001353200.1:c.853A>G	NP_001340129.1:p.Lys285Glu
NR_148391.1:n.1359A>G
NR_148392.1:n.1577A>G
NR_148393.1:n.1359A>G
NR_148394.1:n.1252A>G
NR_148395.1:n.1511A>G
NR_148396.1:n.1145A>G
NR_148397.1:n.1409A>G
NR_148398.1:n.1364A>G
NR_148399.1:n.1751A>G
NR_148400.1:n.1350A>G
XM_005272162.3:c.178A>G	XP_005272219.1:p.Lys60Glu
XM_006716932.2:c.1024A>G	XP_006716995.1:p.Lys342Glu
XM_011518140.2:c.1228A>G	XP_011516442.1:p.Lys410Glu
XM_011518141.2:c.1162A>G	XP_011516443.1:p.Lys388Glu
XM_011518142.2:c.1066A>G	XP_011516444.1:p.Lys356Glu
XM_011518143.2:c.1060A>G	XP_011516445.1:p.Lys354Glu
XM_011518145.2:c.919A>G	XP_011516447.1:p.Lys307Glu
XM_017014205.2:c.178A>G	XP_016869694.1:p.Lys60Glu
XM_024447380.1:c.178A>G	XP_024303148.1:p.Lys60Glu
XM_024447381.1:c.484A>G	XP_024303149.1:p.Lys162Glu
XM_024447382.1:c.178A>G	XP_024303150.1:p.Lys60Glu
XR_001746160.2:n.1479A>G
XR_001746162.2:n.1545A>G
XR_001746164.1:n.1262A>G
XR_001746166.2:n.1696A>G
NM_001077365.2:c.1309A>G MANE Select	NP_001070833.1:p.Lys437Glu
NM_001077366.2:c.1147A>G	NP_001070834.1:p.Lys383Glu
NM_001136113.2:c.1309A>G	NP_001129585.1:p.Lys437Glu
NM_001136114.2:c.958A>G	NP_001129586.1:p.Lys320Glu
NM_001353193.2:c.1375A>G	NP_001340122.2:p.Lys459Glu
NM_001353194.2:c.1147A>G	NP_001340123.1:p.Lys383Glu
NM_001353195.2:c.958A>G	NP_001340124.1:p.Lys320Glu
NM_001353196.2:c.1219A>G	NP_001340125.1:p.Lys407Glu
NM_001353197.2:c.1213A>G	NP_001340126.2:p.Lys405Glu
NM_001353198.2:c.1213A>G	NP_001340127.2:p.Lys405Glu
NM_001353199.2:c.1024A>G	NP_001340128.2:p.Lys342Glu
NM_001353200.2:c.853A>G	NP_001340129.1:p.Lys285Glu
NM_001374689.1:c.1297A>G	NP_001361618.1:p.Lys433Glu
NM_001374690.1:c.1309A>G	NP_001361619.1:p.Lys437Glu
NM_001374691.1:c.958A>G	NP_001361620.1:p.Lys320Glu
NM_001374692.1:c.958A>G	NP_001361621.1:p.Lys320Glu
NM_001374693.1:c.958A>G	NP_001361622.1:p.Lys320Glu
NM_001374695.1:c.919A>G	NP_001361624.1:p.Lys307Glu
NM_007171.4:c.1375A>G	NP_009102.4:p.Lys459Glu
NR_148391.2:n.1343A>G
NR_148392.2:n.1561A>G
NR_148393.2:n.1343A>G
NR_148394.2:n.1236A>G
NR_148395.2:n.1495A>G
NR_148396.2:n.1129A>G
NR_148397.2:n.1393A>G
NR_148398.2:n.1348A>G
NR_148399.2:n.1735A>G
NR_148400.2:n.1334A>G