Canonical Allele Identifier: CA375312030

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394308A>G (hg19) ; chr9:g.131518921A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518921A>G , CM000671.2:g.131518921A>G	GRCh38
NC_000009.11:g.134394308A>G , CM000671.1:g.134394308A>G	GRCh37
NC_000009.10:g.133384129A>G	NCBI36
NG_008896.1:g.21020A>G
NG_008896.2:g.21020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1288A>G	ENSP00000343034.7:p.Thr430Ala
ENST00000404875.7:n.1990A>G
ENST00000423007.6:c.1507A>G	ENSP00000404119.2:p.Thr503Ala
ENST00000677295.2:c.*1794A>G	ENSP00000504346.2:n.*1794A>G
ENST00000678264.2:c.*1633A>G	ENSP00000503157.2:n.*1633A>G
ENST00000682070.1:n.1915A>G
ENST00000682539.1:c.388A>G
ENST00000682813.1:n.1854A>G
ENST00000683392.1:n.4197A>G
ENST00000683712.1:n.1855A>G
ENST00000683900.1:n.3350A>G
ENST00000684062.1:n.2116A>G
ENST00000684579.1:n.3296A>G
ENST00000684679.1:n.677A>G
ENST00000341012.12:c.1288A>G	ENSP00000343034.7:p.Thr430Ala
ENST00000372220.5:c.319A>G	ENSP00000361294.5:p.Thr107Ala
ENST00000372228.9:c.1516A>G	ENSP00000361302.3:p.Thr506Ala
ENST00000402686.8:c.1450A>G MANE Select	ENSP00000385797.4:p.Thr484Ala
ENST00000676640.1:c.1450A>G	ENSP00000503281.1:p.Thr484Ala
ENST00000676803.1:c.625A>G	ENSP00000503093.1:p.Thr209Ala
ENST00000676835.1:c.*665A>G	ENSP00000502911.1:n.*665A>G
ENST00000677029.1:c.994A>G	ENSP00000502936.1:p.Thr332Ala
ENST00000677099.1:c.*1160A>G	ENSP00000504553.1:n.*1160A>G
ENST00000677216.1:c.1099A>G	ENSP00000503772.1:p.Thr367Ala
ENST00000677221.1:n.475A>G
ENST00000677295.1:c.*827A>G	ENSP00000504346.1:n.*827A>G
ENST00000677444.1:c.1395A>G
ENST00000677586.1:n.931A>G
ENST00000677626.1:c.1099A>G	ENSP00000503552.1:p.Thr367Ala
ENST00000677677.1:n.1410A>G
ENST00000677853.1:c.*458A>G	ENSP00000503488.1:n.*458A>G
ENST00000678202.1:n.609A>G
ENST00000678264.1:c.*827A>G	ENSP00000503157.1:n.*827A>G
ENST00000678303.1:c.1360A>G	ENSP00000503696.1:p.Thr454Ala
ENST00000678366.1:c.*1699A>G	ENSP00000504353.1:n.*1699A>G
ENST00000678546.1:c.*1395A>G	ENSP00000503062.1:n.*1395A>G
ENST00000678548.1:c.*1522A>G	ENSP00000503934.1:n.*1522A>G
ENST00000678626.1:n.1286A>G
ENST00000678733.1:c.531A>G
ENST00000678739.1:c.*1776A>G	ENSP00000503806.1:n.*1776A>G
ENST00000678833.1:c.*897A>G	ENSP00000503893.1:n.*897A>G
ENST00000679023.1:c.1288A>G	ENSP00000503718.1:p.Thr430Ala
ENST00000679076.1:c.1069A>G
ENST00000679111.1:c.*206A>G	ENSP00000504257.1:n.*206A>G
ENST00000679189.1:c.1099A>G	ENSP00000503356.1:p.Thr367Ala
ENST00000341012.11:c.1288A>G	ENSP00000343034.7:p.Thr430Ala
ENST00000372220.4:c.313A>G	ENSP00000361294.4:p.Thr105Ala
ENST00000372228.7:c.1516A>G	ENSP00000361302.3:p.Thr506Ala
ENST00000402686.7:c.1450A>G	ENSP00000385797.3:p.Thr484Ala
ENST00000404875.6:c.1099A>G	ENSP00000384531.2:p.Thr367Ala
ENST00000423007.5:c.1450A>G	ENSP00000404119.1:p.Thr484Ala
ENST00000467848.1:n.154A>G
ENST00000485278.5:n.2005A>G
NM_001077365.1:c.1450A>G	NP_001070833.1:p.Thr484Ala
NM_001077366.1:c.1288A>G	NP_001070834.1:p.Thr430Ala
NM_001136113.1:c.1450A>G	NP_001129585.1:p.Thr484Ala
NM_001136114.1:c.1099A>G	NP_001129586.1:p.Thr367Ala
NM_007171.3:c.1516A>G	NP_009102.3:p.Thr506Ala
XM_005272156.1:c.1516A>G	XP_005272213.1:p.Thr506Ala
XM_005272158.1:c.1354A>G	XP_005272215.1:p.Thr452Ala
XM_005272159.1:c.1165A>G	XP_005272216.1:p.Thr389Ala
XM_005272162.1:c.319A>G	XP_005272219.1:p.Thr107Ala
XM_006716932.1:c.1165A>G	XP_006716995.1:p.Thr389Ala
XM_011518140.1:c.1369A>G	XP_011516442.1:p.Thr457Ala
XM_011518141.1:c.1303A>G	XP_011516443.1:p.Thr435Ala
XM_011518142.1:c.1207A>G	XP_011516444.1:p.Thr403Ala
XM_011518143.1:c.1201A>G	XP_011516445.1:p.Thr401Ala
XM_011518145.1:c.1060A>G	XP_011516447.1:p.Thr354Ala
XM_011518147.1:c.388A>G	XP_011516449.1:p.Thr130Ala
XR_929703.1:n.1692A>G
NM_001353193.1:c.1516A>G	NP_001340122.1:p.Thr506Ala
NM_001353194.1:c.1288A>G	NP_001340123.1:p.Thr430Ala
NM_001353195.1:c.1099A>G	NP_001340124.1:p.Thr367Ala
NM_001353196.1:c.1360A>G	NP_001340125.1:p.Thr454Ala
NM_001353197.1:c.1354A>G	NP_001340126.1:p.Thr452Ala
NM_001353198.1:c.1354A>G	NP_001340127.1:p.Thr452Ala
NM_001353199.1:c.1165A>G	NP_001340128.1:p.Thr389Ala
NM_001353200.1:c.994A>G	NP_001340129.1:p.Thr332Ala
NR_148391.1:n.1500A>G
NR_148392.1:n.1718A>G
NR_148393.1:n.1639A>G
NR_148394.1:n.1393A>G
NR_148395.1:n.1791A>G
NR_148396.1:n.1425A>G
NR_148397.1:n.1550A>G
NR_148398.1:n.1505A>G
NR_148399.1:n.2031A>G
NR_148400.1:n.1630A>G
XM_005272162.3:c.319A>G	XP_005272219.1:p.Thr107Ala
XM_006716932.2:c.1165A>G	XP_006716995.1:p.Thr389Ala
XM_011518140.2:c.1369A>G	XP_011516442.1:p.Thr457Ala
XM_011518141.2:c.1303A>G	XP_011516443.1:p.Thr435Ala
XM_011518142.2:c.1207A>G	XP_011516444.1:p.Thr403Ala
XM_011518143.2:c.1201A>G	XP_011516445.1:p.Thr401Ala
XM_011518145.2:c.1060A>G	XP_011516447.1:p.Thr354Ala
XM_017014205.2:c.319A>G	XP_016869694.1:p.Thr107Ala
XM_024447380.1:c.319A>G	XP_024303148.1:p.Thr107Ala
XM_024447381.1:c.625A>G	XP_024303149.1:p.Thr209Ala
XM_024447382.1:c.319A>G	XP_024303150.1:p.Thr107Ala
XR_001746160.2:n.1620A>G
XR_001746162.2:n.1825A>G
XR_001746164.1:n.1542A>G
XR_001746166.2:n.1837A>G
NM_001077365.2:c.1450A>G MANE Select	NP_001070833.1:p.Thr484Ala
NM_001077366.2:c.1288A>G	NP_001070834.1:p.Thr430Ala
NM_001136113.2:c.1450A>G	NP_001129585.1:p.Thr484Ala
NM_001136114.2:c.1099A>G	NP_001129586.1:p.Thr367Ala
NM_001353193.2:c.1516A>G	NP_001340122.2:p.Thr506Ala
NM_001353194.2:c.1288A>G	NP_001340123.1:p.Thr430Ala
NM_001353195.2:c.1099A>G	NP_001340124.1:p.Thr367Ala
NM_001353196.2:c.1360A>G	NP_001340125.1:p.Thr454Ala
NM_001353197.2:c.1354A>G	NP_001340126.2:p.Thr452Ala
NM_001353198.2:c.1354A>G	NP_001340127.2:p.Thr452Ala
NM_001353199.2:c.1165A>G	NP_001340128.2:p.Thr389Ala
NM_001353200.2:c.994A>G	NP_001340129.1:p.Thr332Ala
NM_001374689.1:c.1438A>G	NP_001361618.1:p.Thr480Ala
NM_001374690.1:c.1365+384A>G	NP_001361619.1:n.1365+384A>G
NM_001374691.1:c.1099A>G	NP_001361620.1:p.Thr367Ala
NM_001374692.1:c.1099A>G	NP_001361621.1:p.Thr367Ala
NM_001374693.1:c.1099A>G	NP_001361622.1:p.Thr367Ala
NM_001374695.1:c.1060A>G	NP_001361624.1:p.Thr354Ala
NM_007171.4:c.1516A>G	NP_009102.4:p.Thr506Ala
NR_148391.2:n.1484A>G
NR_148392.2:n.1702A>G
NR_148393.2:n.1623A>G
NR_148394.2:n.1377A>G
NR_148395.2:n.1775A>G
NR_148396.2:n.1409A>G
NR_148397.2:n.1534A>G
NR_148398.2:n.1489A>G
NR_148399.2:n.2015A>G
NR_148400.2:n.1614A>G