Canonical Allele Identifier: CA1881752794

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518939G= , CM000671.2:g.131518939G=	GRCh38
NC_000009.11:g.134394326G= , CM000671.1:g.134394326G=	GRCh37
NC_000009.10:g.133384147G=	NCBI36
NG_008896.1:g.21038G=
NG_008896.2:g.21038G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1306G=	ENSP00000343034.7:p.Glu436=
ENST00000404875.7:n.2008G=
ENST00000423007.6:c.1525G=	ENSP00000404119.2:p.Glu509=
ENST00000677295.2:c.*1812G=	ENSP00000504346.2:n.*1812G=
ENST00000678264.2:c.*1651G=	ENSP00000503157.2:n.*1651G=
ENST00000682070.1:n.1933G=
ENST00000682539.1:c.406G=
ENST00000682813.1:n.1872G=
ENST00000683392.1:n.4215G=
ENST00000683712.1:n.1873G=
ENST00000683900.1:n.3368G=
ENST00000684062.1:n.2134G=
ENST00000684579.1:n.3314G=
ENST00000684679.1:n.695G=
ENST00000341012.12:c.1306G=	ENSP00000343034.7:p.Glu436=
ENST00000372220.5:c.337G=	ENSP00000361294.5:p.Glu113=
ENST00000372228.9:c.1534G=	ENSP00000361302.3:p.Glu512=
ENST00000402686.8:c.1468G= MANE Select	ENSP00000385797.4:p.Glu490=
ENST00000676640.1:c.1468G=	ENSP00000503281.1:p.Glu490=
ENST00000676803.1:c.643G=	ENSP00000503093.1:p.Glu215=
ENST00000676835.1:c.*683G=	ENSP00000502911.1:n.*683G=
ENST00000677029.1:c.1012G=	ENSP00000502936.1:p.Glu338=
ENST00000677099.1:c.*1178G=	ENSP00000504553.1:n.*1178G=
ENST00000677216.1:c.1117G=	ENSP00000503772.1:p.Glu373=
ENST00000677221.1:n.493G=
ENST00000677295.1:c.*845G=	ENSP00000504346.1:n.*845G=
ENST00000677444.1:c.1413G=
ENST00000677586.1:n.949G=
ENST00000677626.1:c.1117G=	ENSP00000503552.1:p.Glu373=
ENST00000677677.1:n.1428G=
ENST00000677853.1:c.*476G=	ENSP00000503488.1:n.*476G=
ENST00000678202.1:n.627G=
ENST00000678264.1:c.*845G=	ENSP00000503157.1:n.*845G=
ENST00000678303.1:c.1378G=	ENSP00000503696.1:p.Glu460=
ENST00000678366.1:c.*1717G=	ENSP00000504353.1:n.*1717G=
ENST00000678546.1:c.*1413G=	ENSP00000503062.1:n.*1413G=
ENST00000678548.1:c.*1540G=	ENSP00000503934.1:n.*1540G=
ENST00000678626.1:n.1304G=
ENST00000678733.1:c.549G=
ENST00000678739.1:c.*1794G=	ENSP00000503806.1:n.*1794G=
ENST00000678833.1:c.*915G=	ENSP00000503893.1:n.*915G=
ENST00000679023.1:c.1306G=	ENSP00000503718.1:p.Glu436=
ENST00000679076.1:c.1087G=
ENST00000679111.1:c.*224G=	ENSP00000504257.1:n.*224G=
ENST00000679189.1:c.1117G=	ENSP00000503356.1:p.Glu373=
ENST00000341012.11:c.1306G=	ENSP00000343034.7:p.Glu436=
ENST00000372220.4:c.331G=	ENSP00000361294.4:p.Glu111=
ENST00000372228.7:c.1534G=	ENSP00000361302.3:p.Glu512=
ENST00000402686.7:c.1468G=	ENSP00000385797.3:p.Glu490=
ENST00000404875.6:c.1117G=	ENSP00000384531.2:p.Glu373=
ENST00000423007.5:c.1468G=	ENSP00000404119.1:p.Glu490=
ENST00000467848.1:n.172G=
ENST00000485278.5:n.2023G=
NM_001077365.1:c.1468G=	NP_001070833.1:p.Glu490=
NM_001077366.1:c.1306G=	NP_001070834.1:p.Glu436=
NM_001136113.1:c.1468G=	NP_001129585.1:p.Glu490=
NM_001136114.1:c.1117G=	NP_001129586.1:p.Glu373=
NM_007171.3:c.1534G=	NP_009102.3:p.Glu512=
XM_005272156.1:c.1534G=	XP_005272213.1:p.Glu512=
XM_005272158.1:c.1372G=	XP_005272215.1:p.Glu458=
XM_005272159.1:c.1183G=	XP_005272216.1:p.Glu395=
XM_005272162.1:c.337G=	XP_005272219.1:p.Glu113=
XM_006716932.1:c.1183G=	XP_006716995.1:p.Glu395=
XM_011518140.1:c.1387G=	XP_011516442.1:p.Glu463=
XM_011518141.1:c.1321G=	XP_011516443.1:p.Glu441=
XM_011518142.1:c.1225G=	XP_011516444.1:p.Glu409=
XM_011518143.1:c.1219G=	XP_011516445.1:p.Glu407=
XM_011518145.1:c.1078G=	XP_011516447.1:p.Glu360=
XM_011518147.1:c.406G=	XP_011516449.1:p.Glu136=
XR_929703.1:n.1710G=
NM_001353193.1:c.1534G=	NP_001340122.1:p.Glu512=
NM_001353194.1:c.1306G=	NP_001340123.1:p.Glu436=
NM_001353195.1:c.1117G=	NP_001340124.1:p.Glu373=
NM_001353196.1:c.1378G=	NP_001340125.1:p.Glu460=
NM_001353197.1:c.1372G=	NP_001340126.1:p.Glu458=
NM_001353198.1:c.1372G=	NP_001340127.1:p.Glu458=
NM_001353199.1:c.1183G=	NP_001340128.1:p.Glu395=
NM_001353200.1:c.1012G=	NP_001340129.1:p.Glu338=
NR_148391.1:n.1518G=
NR_148392.1:n.1736G=
NR_148393.1:n.1657G=
NR_148394.1:n.1411G=
NR_148395.1:n.1809G=
NR_148396.1:n.1443G=
NR_148397.1:n.1568G=
NR_148398.1:n.1523G=
NR_148399.1:n.2049G=
NR_148400.1:n.1648G=
XM_005272162.3:c.337G=	XP_005272219.1:p.Glu113=
XM_006716932.2:c.1183G=	XP_006716995.1:p.Glu395=
XM_011518140.2:c.1387G=	XP_011516442.1:p.Glu463=
XM_011518141.2:c.1321G=	XP_011516443.1:p.Glu441=
XM_011518142.2:c.1225G=	XP_011516444.1:p.Glu409=
XM_011518143.2:c.1219G=	XP_011516445.1:p.Glu407=
XM_011518145.2:c.1078G=	XP_011516447.1:p.Glu360=
XM_017014205.2:c.337G=	XP_016869694.1:p.Glu113=
XM_024447380.1:c.337G=	XP_024303148.1:p.Glu113=
XM_024447381.1:c.643G=	XP_024303149.1:p.Glu215=
XM_024447382.1:c.337G=	XP_024303150.1:p.Glu113=
XR_001746160.2:n.1638G=
XR_001746162.2:n.1843G=
XR_001746164.1:n.1560G=
XR_001746166.2:n.1855G=
NM_001077365.2:c.1468G= MANE Select	NP_001070833.1:p.Glu490=
NM_001077366.2:c.1306G=	NP_001070834.1:p.Glu436=
NM_001136113.2:c.1468G=	NP_001129585.1:p.Glu490=
NM_001136114.2:c.1117G=	NP_001129586.1:p.Glu373=
NM_001353193.2:c.1534G=	NP_001340122.2:p.Glu512=
NM_001353194.2:c.1306G=	NP_001340123.1:p.Glu436=
NM_001353195.2:c.1117G=	NP_001340124.1:p.Glu373=
NM_001353196.2:c.1378G=	NP_001340125.1:p.Glu460=
NM_001353197.2:c.1372G=	NP_001340126.2:p.Glu458=
NM_001353198.2:c.1372G=	NP_001340127.2:p.Glu458=
NM_001353199.2:c.1183G=	NP_001340128.2:p.Glu395=
NM_001353200.2:c.1012G=	NP_001340129.1:p.Glu338=
NM_001374689.1:c.1456G=	NP_001361618.1:p.Glu486=
NM_001374690.1:c.1365+402G=	NP_001361619.1:n.1365+402G=
NM_001374691.1:c.1117G=	NP_001361620.1:p.Glu373=
NM_001374692.1:c.1117G=	NP_001361621.1:p.Glu373=
NM_001374693.1:c.1117G=	NP_001361622.1:p.Glu373=
NM_001374695.1:c.1078G=	NP_001361624.1:p.Glu360=
NM_007171.4:c.1534G=	NP_009102.4:p.Glu512=
NR_148391.2:n.1502G=
NR_148392.2:n.1720G=
NR_148393.2:n.1641G=
NR_148394.2:n.1395G=
NR_148395.2:n.1793G=
NR_148396.2:n.1427G=
NR_148397.2:n.1552G=
NR_148398.2:n.1507G=
NR_148399.2:n.2033G=
NR_148400.2:n.1632G=