Canonical Allele Identifier: CA467424241

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398475C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523088C>A , CM000671.2:g.131523088C>A	GRCh38
NC_000009.11:g.134398475C>A , CM000671.1:g.134398475C>A	GRCh37
NC_000009.10:g.133388296C>A	NCBI36
NG_008896.1:g.25187C>A
NG_008896.2:g.25187C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1998C>A	ENSP00000343034.7:p.Ile666=
ENST00000404875.7:n.2700C>A
ENST00000423007.6:c.2217C>A	ENSP00000404119.2:p.Ile739=
ENST00000677295.2:c.*2504C>A	ENSP00000504346.2:n.*2504C>A
ENST00000678264.2:c.*2343C>A	ENSP00000503157.2:n.*2343C>A
ENST00000682070.1:n.2470C>A
ENST00000682639.1:c.157C>A
ENST00000682813.1:n.2557C>A
ENST00000683231.1:c.157C>A
ENST00000683392.1:n.4752C>A
ENST00000683712.1:n.2565C>A
ENST00000683900.1:n.4060C>A
ENST00000684062.1:n.2826C>A
ENST00000684399.1:c.157C>A
ENST00000684579.1:n.4006C>A
ENST00000341012.12:c.1998C>A	ENSP00000343034.7:p.Ile666=
ENST00000372220.5:c.1029C>A	ENSP00000361294.5:p.Ile343=
ENST00000372228.9:c.2226C>A	ENSP00000361302.3:p.Ile742=
ENST00000402686.8:c.2160C>A MANE Select	ENSP00000385797.4:p.Ile720=
ENST00000676640.1:c.2160C>A	ENSP00000503281.1:p.Ile720=
ENST00000676803.1:c.1221C>A	ENSP00000503093.1:p.Ile407=
ENST00000676835.1:c.*1375C>A	ENSP00000502911.1:n.*1375C>A
ENST00000677029.1:c.1704C>A	ENSP00000502936.1:p.Ile568=
ENST00000677099.1:c.*1870C>A	ENSP00000504553.1:n.*1870C>A
ENST00000677216.1:c.1809C>A	ENSP00000503772.1:p.Ile603=
ENST00000677295.1:c.*1382C>A	ENSP00000504346.1:n.*1382C>A
ENST00000677444.1:c.2105C>A
ENST00000677586.1:n.1527C>A
ENST00000677626.1:c.1809C>A	ENSP00000503552.1:p.Ile603=
ENST00000677853.1:c.*1168C>A	ENSP00000503488.1:n.*1168C>A
ENST00000678264.1:c.*1537C>A	ENSP00000503157.1:n.*1537C>A
ENST00000678303.1:c.2070C>A	ENSP00000503696.1:p.Ile690=
ENST00000678366.1:c.*2409C>A	ENSP00000504353.1:n.*2409C>A
ENST00000678546.1:c.*2105C>A	ENSP00000503062.1:n.*2105C>A
ENST00000678548.1:c.*2299C>A	ENSP00000503934.1:n.*2299C>A
ENST00000678626.1:n.1996C>A
ENST00000678739.1:c.*2326C>A	ENSP00000503806.1:n.*2326C>A
ENST00000678833.1:c.*1912C>A	ENSP00000503893.1:n.*1912C>A
ENST00000679023.1:c.1998C>A	ENSP00000503718.1:p.Ile666=
ENST00000679076.1:c.1779C>A
ENST00000679111.1:c.*916C>A	ENSP00000504257.1:n.*916C>A
ENST00000679189.1:c.1809C>A	ENSP00000503356.1:p.Ile603=
ENST00000341012.11:c.1998C>A	ENSP00000343034.7:p.Ile666=
ENST00000372220.4:c.1023C>A	ENSP00000361294.4:p.Ile341=
ENST00000372228.7:c.2226C>A	ENSP00000361302.3:p.Ile742=
ENST00000402686.7:c.2160C>A	ENSP00000385797.3:p.Ile720=
ENST00000404875.6:c.1809C>A	ENSP00000384531.2:p.Ile603=
ENST00000423007.5:c.2160C>A	ENSP00000404119.1:p.Ile720=
ENST00000485278.5:n.2710C>A
NM_001077365.1:c.2160C>A	NP_001070833.1:p.Ile720=
NM_001077366.1:c.1998C>A	NP_001070834.1:p.Ile666=
NM_001136113.1:c.2160C>A	NP_001129585.1:p.Ile720=
NM_001136114.1:c.1809C>A	NP_001129586.1:p.Ile603=
NM_007171.3:c.2226C>A	NP_009102.3:p.Ile742=
XM_005272156.1:c.2226C>A	XP_005272213.1:p.Ile742=
XM_005272158.1:c.2064C>A	XP_005272215.1:p.Ile688=
XM_005272159.1:c.1875C>A	XP_005272216.1:p.Ile625=
XM_005272162.1:c.1029C>A	XP_005272219.1:p.Ile343=
XM_006716932.1:c.1875C>A	XP_006716995.1:p.Ile625=
XM_011518140.1:c.2079C>A	XP_011516442.1:p.Ile693=
XM_011518141.1:c.2013C>A	XP_011516443.1:p.Ile671=
XM_011518142.1:c.1917C>A	XP_011516444.1:p.Ile639=
XM_011518143.1:c.1911C>A	XP_011516445.1:p.Ile637=
XM_011518145.1:c.1770C>A	XP_011516447.1:p.Ile590=
XM_011518147.1:c.1098C>A	XP_011516449.1:p.Ile366=
XR_929703.1:n.2402C>A
NM_001353193.1:c.2226C>A	NP_001340122.1:p.Ile742=
NM_001353194.1:c.1998C>A	NP_001340123.1:p.Ile666=
NM_001353195.1:c.1809C>A	NP_001340124.1:p.Ile603=
NM_001353196.1:c.2070C>A	NP_001340125.1:p.Ile690=
NM_001353197.1:c.2064C>A	NP_001340126.1:p.Ile688=
NM_001353198.1:c.2064C>A	NP_001340127.1:p.Ile688=
NM_001353199.1:c.1875C>A	NP_001340128.1:p.Ile625=
NM_001353200.1:c.1704C>A	NP_001340129.1:p.Ile568=
NR_148391.1:n.2210C>A
NR_148392.1:n.2428C>A
NR_148393.1:n.2349C>A
NR_148394.1:n.2103C>A
NR_148395.1:n.2501C>A
NR_148396.1:n.2135C>A
NR_148397.1:n.2260C>A
NR_148398.1:n.2215C>A
NR_148399.1:n.2741C>A
NR_148400.1:n.2340C>A
XM_005272162.3:c.1029C>A	XP_005272219.1:p.Ile343=
XM_006716932.2:c.1875C>A	XP_006716995.1:p.Ile625=
XM_011518140.2:c.2079C>A	XP_011516442.1:p.Ile693=
XM_011518141.2:c.2013C>A	XP_011516443.1:p.Ile671=
XM_011518142.2:c.1917C>A	XP_011516444.1:p.Ile639=
XM_011518143.2:c.1911C>A	XP_011516445.1:p.Ile637=
XM_011518145.2:c.1770C>A	XP_011516447.1:p.Ile590=
XM_017014205.2:c.1029C>A	XP_016869694.1:p.Ile343=
XM_024447380.1:c.1029C>A	XP_024303148.1:p.Ile343=
XM_024447381.1:c.1335C>A	XP_024303149.1:p.Ile445=
XM_024447382.1:c.1029C>A	XP_024303150.1:p.Ile343=
XR_001746160.2:n.2330C>A
XR_001746162.2:n.2535C>A
XR_001746164.1:n.2252C>A
XR_001746166.2:n.2547C>A
NM_001077365.2:c.2160C>A MANE Select	NP_001070833.1:p.Ile720=
NM_001077366.2:c.1998C>A	NP_001070834.1:p.Ile666=
NM_001136113.2:c.2160C>A	NP_001129585.1:p.Ile720=
NM_001136114.2:c.1809C>A	NP_001129586.1:p.Ile603=
NM_001353193.2:c.2226C>A	NP_001340122.2:p.Ile742=
NM_001353194.2:c.1998C>A	NP_001340123.1:p.Ile666=
NM_001353195.2:c.1809C>A	NP_001340124.1:p.Ile603=
NM_001353196.2:c.2070C>A	NP_001340125.1:p.Ile690=
NM_001353197.2:c.2064C>A	NP_001340126.2:p.Ile688=
NM_001353198.2:c.2064C>A	NP_001340127.2:p.Ile688=
NM_001353199.2:c.1875C>A	NP_001340128.2:p.Ile625=
NM_001353200.2:c.1704C>A	NP_001340129.1:p.Ile568=
NM_001374689.1:c.2148C>A	NP_001361618.1:p.Ile716=
NM_001374690.1:c.1941C>A	NP_001361619.1:p.Ile647=
NM_001374691.1:c.1809C>A	NP_001361620.1:p.Ile603=
NM_001374692.1:c.1809C>A	NP_001361621.1:p.Ile603=
NM_001374693.1:c.1809C>A	NP_001361622.1:p.Ile603=
NM_001374695.1:c.1770C>A	NP_001361624.1:p.Ile590=
NM_007171.4:c.2226C>A	NP_009102.4:p.Ile742=
NR_148391.2:n.2194C>A
NR_148392.2:n.2412C>A
NR_148393.2:n.2333C>A
NR_148394.2:n.2087C>A
NR_148395.2:n.2485C>A
NR_148396.2:n.2119C>A
NR_148397.2:n.2244C>A
NR_148398.2:n.2199C>A
NR_148399.2:n.2725C>A
NR_148400.2:n.2324C>A