Canonical Allele Identifier: CA1881752524

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518862G= , CM000671.2:g.131518862G=	GRCh38
NC_000009.11:g.134394249G= , CM000671.1:g.134394249G=	GRCh37
NC_000009.10:g.133384070G=	NCBI36
NG_008896.1:g.20961G=
NG_008896.2:g.20961G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1229G=	ENSP00000343034.7:p.Trp410=
ENST00000404875.7:n.1931G=
ENST00000423007.6:c.1448G=	ENSP00000404119.2:p.Trp483=
ENST00000677295.2:c.*1735G=	ENSP00000504346.2:n.*1735G=
ENST00000678264.2:c.*1574G=	ENSP00000503157.2:n.*1574G=
ENST00000682070.1:n.1856G=
ENST00000682539.1:c.329G=
ENST00000682813.1:n.1795G=
ENST00000683392.1:n.4138G=
ENST00000683712.1:n.1796G=
ENST00000683900.1:n.3291G=
ENST00000684062.1:n.2057G=
ENST00000684579.1:n.3237G=
ENST00000684679.1:n.618G=
ENST00000341012.12:c.1229G=	ENSP00000343034.7:p.Trp410=
ENST00000372220.5:c.260G=	ENSP00000361294.5:p.Trp87=
ENST00000372228.9:c.1457G=	ENSP00000361302.3:p.Trp486=
ENST00000402686.8:c.1391G= MANE Select	ENSP00000385797.4:p.Trp464=
ENST00000676640.1:c.1391G=	ENSP00000503281.1:p.Trp464=
ENST00000676803.1:c.566G=	ENSP00000503093.1:p.Trp189=
ENST00000676835.1:c.*606G=	ENSP00000502911.1:n.*606G=
ENST00000677029.1:c.935G=	ENSP00000502936.1:p.Trp312=
ENST00000677099.1:c.*1101G=	ENSP00000504553.1:n.*1101G=
ENST00000677216.1:c.1040G=	ENSP00000503772.1:p.Trp347=
ENST00000677221.1:n.416G=
ENST00000677295.1:c.*768G=	ENSP00000504346.1:n.*768G=
ENST00000677444.1:c.1336G=
ENST00000677586.1:n.872G=
ENST00000677626.1:c.1040G=	ENSP00000503552.1:p.Trp347=
ENST00000677677.1:n.1351G=
ENST00000677853.1:c.*399G=	ENSP00000503488.1:n.*399G=
ENST00000678202.1:n.550G=
ENST00000678264.1:c.*768G=	ENSP00000503157.1:n.*768G=
ENST00000678303.1:c.1301G=	ENSP00000503696.1:p.Trp434=
ENST00000678366.1:c.*1640G=	ENSP00000504353.1:n.*1640G=
ENST00000678546.1:c.*1336G=	ENSP00000503062.1:n.*1336G=
ENST00000678548.1:c.*1463G=	ENSP00000503934.1:n.*1463G=
ENST00000678626.1:n.1227G=
ENST00000678733.1:c.472G=
ENST00000678739.1:c.*1717G=	ENSP00000503806.1:n.*1717G=
ENST00000678833.1:c.*838G=	ENSP00000503893.1:n.*838G=
ENST00000679023.1:c.1229G=	ENSP00000503718.1:p.Trp410=
ENST00000679076.1:c.1010G=
ENST00000679111.1:c.*147G=	ENSP00000504257.1:n.*147G=
ENST00000679189.1:c.1040G=	ENSP00000503356.1:p.Trp347=
ENST00000341012.11:c.1229G=	ENSP00000343034.7:p.Trp410=
ENST00000372220.4:c.254G=	ENSP00000361294.4:p.Trp85=
ENST00000372228.7:c.1457G=	ENSP00000361302.3:p.Trp486=
ENST00000402686.7:c.1391G=	ENSP00000385797.3:p.Trp464=
ENST00000404875.6:c.1040G=	ENSP00000384531.2:p.Trp347=
ENST00000423007.5:c.1391G=	ENSP00000404119.1:p.Trp464=
ENST00000467848.1:n.95G=
ENST00000485278.5:n.1946G=
NM_001077365.1:c.1391G=	NP_001070833.1:p.Trp464=
NM_001077366.1:c.1229G=	NP_001070834.1:p.Trp410=
NM_001136113.1:c.1391G=	NP_001129585.1:p.Trp464=
NM_001136114.1:c.1040G=	NP_001129586.1:p.Trp347=
NM_007171.3:c.1457G=	NP_009102.3:p.Trp486=
XM_005272156.1:c.1457G=	XP_005272213.1:p.Trp486=
XM_005272158.1:c.1295G=	XP_005272215.1:p.Trp432=
XM_005272159.1:c.1106G=	XP_005272216.1:p.Trp369=
XM_005272162.1:c.260G=	XP_005272219.1:p.Trp87=
XM_006716932.1:c.1106G=	XP_006716995.1:p.Trp369=
XM_011518140.1:c.1310G=	XP_011516442.1:p.Trp437=
XM_011518141.1:c.1244G=	XP_011516443.1:p.Trp415=
XM_011518142.1:c.1148G=	XP_011516444.1:p.Trp383=
XM_011518143.1:c.1142G=	XP_011516445.1:p.Trp381=
XM_011518144.1:c.*147G=	XP_011516446.1:n.*147G=
XM_011518145.1:c.1001G=	XP_011516447.1:p.Trp334=
XM_011518146.1:c.*147G=	XP_011516448.1:n.*147G=
XM_011518147.1:c.329G=	XP_011516449.1:p.Trp110=
XR_929703.1:n.1633G=
NM_001353193.1:c.1457G=	NP_001340122.1:p.Trp486=
NM_001353194.1:c.1229G=	NP_001340123.1:p.Trp410=
NM_001353195.1:c.1040G=	NP_001340124.1:p.Trp347=
NM_001353196.1:c.1301G=	NP_001340125.1:p.Trp434=
NM_001353197.1:c.1295G=	NP_001340126.1:p.Trp432=
NM_001353198.1:c.1295G=	NP_001340127.1:p.Trp432=
NM_001353199.1:c.1106G=	NP_001340128.1:p.Trp369=
NM_001353200.1:c.935G=	NP_001340129.1:p.Trp312=
NR_148391.1:n.1441G=
NR_148392.1:n.1659G=
NR_148393.1:n.1580G=
NR_148394.1:n.1334G=
NR_148395.1:n.1732G=
NR_148396.1:n.1366G=
NR_148397.1:n.1491G=
NR_148398.1:n.1446G=
NR_148399.1:n.1972G=
NR_148400.1:n.1571G=
XM_005272162.3:c.260G=	XP_005272219.1:p.Trp87=
XM_006716932.2:c.1106G=	XP_006716995.1:p.Trp369=
XM_011518140.2:c.1310G=	XP_011516442.1:p.Trp437=
XM_011518141.2:c.1244G=	XP_011516443.1:p.Trp415=
XM_011518142.2:c.1148G=	XP_011516444.1:p.Trp383=
XM_011518143.2:c.1142G=	XP_011516445.1:p.Trp381=
XM_011518145.2:c.1001G=	XP_011516447.1:p.Trp334=
XM_017014205.2:c.260G=	XP_016869694.1:p.Trp87=
XM_024447380.1:c.260G=	XP_024303148.1:p.Trp87=
XM_024447381.1:c.566G=	XP_024303149.1:p.Trp189=
XM_024447382.1:c.260G=	XP_024303150.1:p.Trp87=
XR_001746160.2:n.1561G=
XR_001746162.2:n.1766G=
XR_001746164.1:n.1483G=
XR_001746166.2:n.1778G=
NM_001077365.2:c.1391G= MANE Select	NP_001070833.1:p.Trp464=
NM_001077366.2:c.1229G=	NP_001070834.1:p.Trp410=
NM_001136113.2:c.1391G=	NP_001129585.1:p.Trp464=
NM_001136114.2:c.1040G=	NP_001129586.1:p.Trp347=
NM_001353193.2:c.1457G=	NP_001340122.2:p.Trp486=
NM_001353194.2:c.1229G=	NP_001340123.1:p.Trp410=
NM_001353195.2:c.1040G=	NP_001340124.1:p.Trp347=
NM_001353196.2:c.1301G=	NP_001340125.1:p.Trp434=
NM_001353197.2:c.1295G=	NP_001340126.2:p.Trp432=
NM_001353198.2:c.1295G=	NP_001340127.2:p.Trp432=
NM_001353199.2:c.1106G=	NP_001340128.2:p.Trp369=
NM_001353200.2:c.935G=	NP_001340129.1:p.Trp312=
NM_001374689.1:c.1379G=	NP_001361618.1:p.Trp460=
NM_001374690.1:c.1365+325G=	NP_001361619.1:n.1365+325G=
NM_001374691.1:c.1040G=	NP_001361620.1:p.Trp347=
NM_001374692.1:c.1040G=	NP_001361621.1:p.Trp347=
NM_001374693.1:c.1040G=	NP_001361622.1:p.Trp347=
NM_001374695.1:c.1001G=	NP_001361624.1:p.Trp334=
NM_007171.4:c.1457G=	NP_009102.4:p.Trp486=
NR_148391.2:n.1425G=
NR_148392.2:n.1643G=
NR_148393.2:n.1564G=
NR_148394.2:n.1318G=
NR_148395.2:n.1716G=
NR_148396.2:n.1350G=
NR_148397.2:n.1475G=
NR_148398.2:n.1430G=
NR_148399.2:n.1956G=
NR_148400.2:n.1555G=