Canonical Allele Identifier: CA1881756761

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521443G= , CM000671.2:g.131521443G=	GRCh38
NC_000009.11:g.134396830G= , CM000671.1:g.134396830G=	GRCh37
NC_000009.10:g.133386651G=	NCBI36
NG_008896.1:g.23542G=
NG_008896.2:g.23542G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1634G=	ENSP00000343034.7:p.Arg545=
ENST00000404875.7:n.2336G=
ENST00000423007.6:c.1853G=	ENSP00000404119.2:p.Arg618=
ENST00000677295.2:c.*2140G=	ENSP00000504346.2:n.*2140G=
ENST00000678264.2:c.*1979G=	ENSP00000503157.2:n.*1979G=
ENST00000682070.1:n.2261G=
ENST00000682813.1:n.2200G=
ENST00000683392.1:n.4543G=
ENST00000683712.1:n.2201G=
ENST00000683900.1:n.3696G=
ENST00000684062.1:n.2462G=
ENST00000684579.1:n.3642G=
ENST00000684679.1:n.1023G=
ENST00000341012.12:c.1634G=	ENSP00000343034.7:p.Arg545=
ENST00000372220.5:c.665G=	ENSP00000361294.5:p.Arg222=
ENST00000372228.9:c.1862G=	ENSP00000361302.3:p.Arg621=
ENST00000402686.8:c.1796G= MANE Select	ENSP00000385797.4:p.Arg599=
ENST00000676640.1:c.1796G=	ENSP00000503281.1:p.Arg599=
ENST00000676803.1:c.857G=	ENSP00000503093.1:p.Arg286=
ENST00000676835.1:c.*1011G=	ENSP00000502911.1:n.*1011G=
ENST00000677029.1:c.1340G=	ENSP00000502936.1:p.Arg447=
ENST00000677099.1:c.*1506G=	ENSP00000504553.1:n.*1506G=
ENST00000677216.1:c.1445G=	ENSP00000503772.1:p.Arg482=
ENST00000677221.1:n.821G=
ENST00000677295.1:c.*1173G=	ENSP00000504346.1:n.*1173G=
ENST00000677444.1:c.1741G=
ENST00000677586.1:n.1163G=
ENST00000677626.1:c.1445G=	ENSP00000503552.1:p.Arg482=
ENST00000677853.1:c.*804G=	ENSP00000503488.1:n.*804G=
ENST00000678202.1:n.955G=
ENST00000678264.1:c.*1173G=	ENSP00000503157.1:n.*1173G=
ENST00000678303.1:c.1706G=	ENSP00000503696.1:p.Arg569=
ENST00000678366.1:c.*2045G=	ENSP00000504353.1:n.*2045G=
ENST00000678546.1:c.*1741G=	ENSP00000503062.1:n.*1741G=
ENST00000678548.1:c.*1868G=	ENSP00000503934.1:n.*1868G=
ENST00000678626.1:n.1632G=
ENST00000678739.1:c.*2117G=	ENSP00000503806.1:n.*2117G=
ENST00000678833.1:c.*1548G=	ENSP00000503893.1:n.*1548G=
ENST00000679023.1:c.1634G=	ENSP00000503718.1:p.Arg545=
ENST00000679076.1:c.1415G=
ENST00000679111.1:c.*552G=	ENSP00000504257.1:n.*552G=
ENST00000679189.1:c.1445G=	ENSP00000503356.1:p.Arg482=
ENST00000341012.11:c.1634G=	ENSP00000343034.7:p.Arg545=
ENST00000372220.4:c.659G=	ENSP00000361294.4:p.Arg220=
ENST00000372228.7:c.1862G=	ENSP00000361302.3:p.Arg621=
ENST00000402686.7:c.1796G=	ENSP00000385797.3:p.Arg599=
ENST00000404875.6:c.1445G=	ENSP00000384531.2:p.Arg482=
ENST00000423007.5:c.1796G=	ENSP00000404119.1:p.Arg599=
ENST00000485278.5:n.2346G=
ENST00000494883.1:n.339G=
NM_001077365.1:c.1796G=	NP_001070833.1:p.Arg599=
NM_001077366.1:c.1634G=	NP_001070834.1:p.Arg545=
NM_001136113.1:c.1796G=	NP_001129585.1:p.Arg599=
NM_001136114.1:c.1445G=	NP_001129586.1:p.Arg482=
NM_007171.3:c.1862G=	NP_009102.3:p.Arg621=
XM_005272156.1:c.1862G=	XP_005272213.1:p.Arg621=
XM_005272158.1:c.1700G=	XP_005272215.1:p.Arg567=
XM_005272159.1:c.1511G=	XP_005272216.1:p.Arg504=
XM_005272162.1:c.665G=	XP_005272219.1:p.Arg222=
XM_006716932.1:c.1511G=	XP_006716995.1:p.Arg504=
XM_011518140.1:c.1715G=	XP_011516442.1:p.Arg572=
XM_011518141.1:c.1649G=	XP_011516443.1:p.Arg550=
XM_011518142.1:c.1553G=	XP_011516444.1:p.Arg518=
XM_011518143.1:c.1547G=	XP_011516445.1:p.Arg516=
XM_011518145.1:c.1406G=	XP_011516447.1:p.Arg469=
XM_011518147.1:c.734G=	XP_011516449.1:p.Arg245=
XR_929703.1:n.2038G=
NM_001353193.1:c.1862G=	NP_001340122.1:p.Arg621=
NM_001353194.1:c.1634G=	NP_001340123.1:p.Arg545=
NM_001353195.1:c.1445G=	NP_001340124.1:p.Arg482=
NM_001353196.1:c.1706G=	NP_001340125.1:p.Arg569=
NM_001353197.1:c.1700G=	NP_001340126.1:p.Arg567=
NM_001353198.1:c.1700G=	NP_001340127.1:p.Arg567=
NM_001353199.1:c.1511G=	NP_001340128.1:p.Arg504=
NM_001353200.1:c.1340G=	NP_001340129.1:p.Arg447=
NR_148391.1:n.1846G=
NR_148392.1:n.2064G=
NR_148393.1:n.1985G=
NR_148394.1:n.1739G=
NR_148395.1:n.2137G=
NR_148396.1:n.1771G=
NR_148397.1:n.1896G=
NR_148398.1:n.1851G=
NR_148399.1:n.2377G=
NR_148400.1:n.1976G=
XM_005272162.3:c.665G=	XP_005272219.1:p.Arg222=
XM_006716932.2:c.1511G=	XP_006716995.1:p.Arg504=
XM_011518140.2:c.1715G=	XP_011516442.1:p.Arg572=
XM_011518141.2:c.1649G=	XP_011516443.1:p.Arg550=
XM_011518142.2:c.1553G=	XP_011516444.1:p.Arg518=
XM_011518143.2:c.1547G=	XP_011516445.1:p.Arg516=
XM_011518145.2:c.1406G=	XP_011516447.1:p.Arg469=
XM_017014205.2:c.665G=	XP_016869694.1:p.Arg222=
XM_024447380.1:c.665G=	XP_024303148.1:p.Arg222=
XM_024447381.1:c.971G=	XP_024303149.1:p.Arg324=
XM_024447382.1:c.665G=	XP_024303150.1:p.Arg222=
XR_001746160.2:n.1966G=
XR_001746162.2:n.2171G=
XR_001746164.1:n.1888G=
XR_001746166.2:n.2183G=
NM_001077365.2:c.1796G= MANE Select	NP_001070833.1:p.Arg599=
NM_001077366.2:c.1634G=	NP_001070834.1:p.Arg545=
NM_001136113.2:c.1796G=	NP_001129585.1:p.Arg599=
NM_001136114.2:c.1445G=	NP_001129586.1:p.Arg482=
NM_001353193.2:c.1862G=	NP_001340122.2:p.Arg621=
NM_001353194.2:c.1634G=	NP_001340123.1:p.Arg545=
NM_001353195.2:c.1445G=	NP_001340124.1:p.Arg482=
NM_001353196.2:c.1706G=	NP_001340125.1:p.Arg569=
NM_001353197.2:c.1700G=	NP_001340126.2:p.Arg567=
NM_001353198.2:c.1700G=	NP_001340127.2:p.Arg567=
NM_001353199.2:c.1511G=	NP_001340128.2:p.Arg504=
NM_001353200.2:c.1340G=	NP_001340129.1:p.Arg447=
NM_001374689.1:c.1784G=	NP_001361618.1:p.Arg595=
NM_001374690.1:c.1577G=	NP_001361619.1:p.Arg526=
NM_001374691.1:c.1445G=	NP_001361620.1:p.Arg482=
NM_001374692.1:c.1445G=	NP_001361621.1:p.Arg482=
NM_001374693.1:c.1445G=	NP_001361622.1:p.Arg482=
NM_001374695.1:c.1406G=	NP_001361624.1:p.Arg469=
NM_007171.4:c.1862G=	NP_009102.4:p.Arg621=
NR_148391.2:n.1830G=
NR_148392.2:n.2048G=
NR_148393.2:n.1969G=
NR_148394.2:n.1723G=
NR_148395.2:n.2121G=
NR_148396.2:n.1755G=
NR_148397.2:n.1880G=
NR_148398.2:n.1835G=
NR_148399.2:n.2361G=
NR_148400.2:n.1960G=