Canonical Allele Identifier: CA1881760550

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523087T= , CM000671.2:g.131523087T=	GRCh38
NC_000009.11:g.134398474T= , CM000671.1:g.134398474T=	GRCh37
NC_000009.10:g.133388295T=	NCBI36
NG_008896.1:g.25186T=
NG_008896.2:g.25186T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1997T=	ENSP00000343034.7:p.Ile666=
ENST00000404875.7:n.2699T=
ENST00000423007.6:c.2216T=	ENSP00000404119.2:p.Ile739=
ENST00000677295.2:c.*2503T=	ENSP00000504346.2:n.*2503T=
ENST00000678264.2:c.*2342T=	ENSP00000503157.2:n.*2342T=
ENST00000682070.1:n.2469T=
ENST00000682639.1:c.156T=
ENST00000682813.1:n.2556T=
ENST00000683231.1:c.156T=
ENST00000683392.1:n.4751T=
ENST00000683712.1:n.2564T=
ENST00000683900.1:n.4059T=
ENST00000684062.1:n.2825T=
ENST00000684399.1:c.156T=
ENST00000684579.1:n.4005T=
ENST00000341012.12:c.1997T=	ENSP00000343034.7:p.Ile666=
ENST00000372220.5:c.1028T=	ENSP00000361294.5:p.Ile343=
ENST00000372228.9:c.2225T=	ENSP00000361302.3:p.Ile742=
ENST00000402686.8:c.2159T= MANE Select	ENSP00000385797.4:p.Ile720=
ENST00000676640.1:c.2159T=	ENSP00000503281.1:p.Ile720=
ENST00000676803.1:c.1220T=	ENSP00000503093.1:p.Ile407=
ENST00000676835.1:c.*1374T=	ENSP00000502911.1:n.*1374T=
ENST00000677029.1:c.1703T=	ENSP00000502936.1:p.Ile568=
ENST00000677099.1:c.*1869T=	ENSP00000504553.1:n.*1869T=
ENST00000677216.1:c.1808T=	ENSP00000503772.1:p.Ile603=
ENST00000677295.1:c.*1381T=	ENSP00000504346.1:n.*1381T=
ENST00000677444.1:c.2104T=
ENST00000677586.1:n.1526T=
ENST00000677626.1:c.1808T=	ENSP00000503552.1:p.Ile603=
ENST00000677853.1:c.*1167T=	ENSP00000503488.1:n.*1167T=
ENST00000678264.1:c.*1536T=	ENSP00000503157.1:n.*1536T=
ENST00000678303.1:c.2069T=	ENSP00000503696.1:p.Ile690=
ENST00000678366.1:c.*2408T=	ENSP00000504353.1:n.*2408T=
ENST00000678546.1:c.*2104T=	ENSP00000503062.1:n.*2104T=
ENST00000678548.1:c.*2298T=	ENSP00000503934.1:n.*2298T=
ENST00000678626.1:n.1995T=
ENST00000678739.1:c.*2325T=	ENSP00000503806.1:n.*2325T=
ENST00000678833.1:c.*1911T=	ENSP00000503893.1:n.*1911T=
ENST00000679023.1:c.1997T=	ENSP00000503718.1:p.Ile666=
ENST00000679076.1:c.1778T=
ENST00000679111.1:c.*915T=	ENSP00000504257.1:n.*915T=
ENST00000679189.1:c.1808T=	ENSP00000503356.1:p.Ile603=
ENST00000341012.11:c.1997T=	ENSP00000343034.7:p.Ile666=
ENST00000372220.4:c.1022T=	ENSP00000361294.4:p.Ile341=
ENST00000372228.7:c.2225T=	ENSP00000361302.3:p.Ile742=
ENST00000402686.7:c.2159T=	ENSP00000385797.3:p.Ile720=
ENST00000404875.6:c.1808T=	ENSP00000384531.2:p.Ile603=
ENST00000423007.5:c.2159T=	ENSP00000404119.1:p.Ile720=
ENST00000485278.5:n.2709T=
NM_001077365.1:c.2159T=	NP_001070833.1:p.Ile720=
NM_001077366.1:c.1997T=	NP_001070834.1:p.Ile666=
NM_001136113.1:c.2159T=	NP_001129585.1:p.Ile720=
NM_001136114.1:c.1808T=	NP_001129586.1:p.Ile603=
NM_007171.3:c.2225T=	NP_009102.3:p.Ile742=
XM_005272156.1:c.2225T=	XP_005272213.1:p.Ile742=
XM_005272158.1:c.2063T=	XP_005272215.1:p.Ile688=
XM_005272159.1:c.1874T=	XP_005272216.1:p.Ile625=
XM_005272162.1:c.1028T=	XP_005272219.1:p.Ile343=
XM_006716932.1:c.1874T=	XP_006716995.1:p.Ile625=
XM_011518140.1:c.2078T=	XP_011516442.1:p.Ile693=
XM_011518141.1:c.2012T=	XP_011516443.1:p.Ile671=
XM_011518142.1:c.1916T=	XP_011516444.1:p.Ile639=
XM_011518143.1:c.1910T=	XP_011516445.1:p.Ile637=
XM_011518145.1:c.1769T=	XP_011516447.1:p.Ile590=
XM_011518147.1:c.1097T=	XP_011516449.1:p.Ile366=
XR_929703.1:n.2401T=
NM_001353193.1:c.2225T=	NP_001340122.1:p.Ile742=
NM_001353194.1:c.1997T=	NP_001340123.1:p.Ile666=
NM_001353195.1:c.1808T=	NP_001340124.1:p.Ile603=
NM_001353196.1:c.2069T=	NP_001340125.1:p.Ile690=
NM_001353197.1:c.2063T=	NP_001340126.1:p.Ile688=
NM_001353198.1:c.2063T=	NP_001340127.1:p.Ile688=
NM_001353199.1:c.1874T=	NP_001340128.1:p.Ile625=
NM_001353200.1:c.1703T=	NP_001340129.1:p.Ile568=
NR_148391.1:n.2209T=
NR_148392.1:n.2427T=
NR_148393.1:n.2348T=
NR_148394.1:n.2102T=
NR_148395.1:n.2500T=
NR_148396.1:n.2134T=
NR_148397.1:n.2259T=
NR_148398.1:n.2214T=
NR_148399.1:n.2740T=
NR_148400.1:n.2339T=
XM_005272162.3:c.1028T=	XP_005272219.1:p.Ile343=
XM_006716932.2:c.1874T=	XP_006716995.1:p.Ile625=
XM_011518140.2:c.2078T=	XP_011516442.1:p.Ile693=
XM_011518141.2:c.2012T=	XP_011516443.1:p.Ile671=
XM_011518142.2:c.1916T=	XP_011516444.1:p.Ile639=
XM_011518143.2:c.1910T=	XP_011516445.1:p.Ile637=
XM_011518145.2:c.1769T=	XP_011516447.1:p.Ile590=
XM_017014205.2:c.1028T=	XP_016869694.1:p.Ile343=
XM_024447380.1:c.1028T=	XP_024303148.1:p.Ile343=
XM_024447381.1:c.1334T=	XP_024303149.1:p.Ile445=
XM_024447382.1:c.1028T=	XP_024303150.1:p.Ile343=
XR_001746160.2:n.2329T=
XR_001746162.2:n.2534T=
XR_001746164.1:n.2251T=
XR_001746166.2:n.2546T=
NM_001077365.2:c.2159T= MANE Select	NP_001070833.1:p.Ile720=
NM_001077366.2:c.1997T=	NP_001070834.1:p.Ile666=
NM_001136113.2:c.2159T=	NP_001129585.1:p.Ile720=
NM_001136114.2:c.1808T=	NP_001129586.1:p.Ile603=
NM_001353193.2:c.2225T=	NP_001340122.2:p.Ile742=
NM_001353194.2:c.1997T=	NP_001340123.1:p.Ile666=
NM_001353195.2:c.1808T=	NP_001340124.1:p.Ile603=
NM_001353196.2:c.2069T=	NP_001340125.1:p.Ile690=
NM_001353197.2:c.2063T=	NP_001340126.2:p.Ile688=
NM_001353198.2:c.2063T=	NP_001340127.2:p.Ile688=
NM_001353199.2:c.1874T=	NP_001340128.2:p.Ile625=
NM_001353200.2:c.1703T=	NP_001340129.1:p.Ile568=
NM_001374689.1:c.2147T=	NP_001361618.1:p.Ile716=
NM_001374690.1:c.1940T=	NP_001361619.1:p.Ile647=
NM_001374691.1:c.1808T=	NP_001361620.1:p.Ile603=
NM_001374692.1:c.1808T=	NP_001361621.1:p.Ile603=
NM_001374693.1:c.1808T=	NP_001361622.1:p.Ile603=
NM_001374695.1:c.1769T=	NP_001361624.1:p.Ile590=
NM_007171.4:c.2225T=	NP_009102.4:p.Ile742=
NR_148391.2:n.2193T=
NR_148392.2:n.2411T=
NR_148393.2:n.2332T=
NR_148394.2:n.2086T=
NR_148395.2:n.2484T=
NR_148396.2:n.2118T=
NR_148397.2:n.2243T=
NR_148398.2:n.2198T=
NR_148399.2:n.2724T=
NR_148400.2:n.2323T=