Canonical Allele Identifier: CA467424245

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398481C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523094C>A , CM000671.2:g.131523094C>A	GRCh38
NC_000009.11:g.134398481C>A , CM000671.1:g.134398481C>A	GRCh37
NC_000009.10:g.133388302C>A	NCBI36
NG_008896.1:g.25193C>A
NG_008896.2:g.25193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2004C>A	ENSP00000343034.7:p.Ile668=
ENST00000404875.7:n.2706C>A
ENST00000423007.6:c.2223C>A	ENSP00000404119.2:p.Ile741=
ENST00000677295.2:c.*2510C>A	ENSP00000504346.2:n.*2510C>A
ENST00000678264.2:c.*2349C>A	ENSP00000503157.2:n.*2349C>A
ENST00000682070.1:n.2476C>A
ENST00000682639.1:c.163C>A
ENST00000682813.1:n.2563C>A
ENST00000683231.1:c.163C>A
ENST00000683392.1:n.4758C>A
ENST00000683712.1:n.2571C>A
ENST00000683900.1:n.4066C>A
ENST00000684062.1:n.2832C>A
ENST00000684399.1:c.163C>A
ENST00000684579.1:n.4012C>A
ENST00000341012.12:c.2004C>A	ENSP00000343034.7:p.Ile668=
ENST00000372220.5:c.1035C>A	ENSP00000361294.5:p.Ile345=
ENST00000372228.9:c.2232C>A	ENSP00000361302.3:p.Ile744=
ENST00000402686.8:c.2166C>A MANE Select	ENSP00000385797.4:p.Ile722=
ENST00000676640.1:c.2166C>A	ENSP00000503281.1:p.Ile722=
ENST00000676803.1:c.1227C>A	ENSP00000503093.1:p.Ile409=
ENST00000676835.1:c.*1381C>A	ENSP00000502911.1:n.*1381C>A
ENST00000677029.1:c.1710C>A	ENSP00000502936.1:p.Ile570=
ENST00000677099.1:c.*1876C>A	ENSP00000504553.1:n.*1876C>A
ENST00000677216.1:c.1815C>A	ENSP00000503772.1:p.Ile605=
ENST00000677295.1:c.*1388C>A	ENSP00000504346.1:n.*1388C>A
ENST00000677444.1:c.2111C>A
ENST00000677586.1:n.1533C>A
ENST00000677626.1:c.1815C>A	ENSP00000503552.1:p.Ile605=
ENST00000677853.1:c.*1174C>A	ENSP00000503488.1:n.*1174C>A
ENST00000678264.1:c.*1543C>A	ENSP00000503157.1:n.*1543C>A
ENST00000678303.1:c.2076C>A	ENSP00000503696.1:p.Ile692=
ENST00000678366.1:c.*2415C>A	ENSP00000504353.1:n.*2415C>A
ENST00000678546.1:c.*2111C>A	ENSP00000503062.1:n.*2111C>A
ENST00000678548.1:c.*2305C>A	ENSP00000503934.1:n.*2305C>A
ENST00000678626.1:n.2002C>A
ENST00000678739.1:c.*2332C>A	ENSP00000503806.1:n.*2332C>A
ENST00000678833.1:c.*1918C>A	ENSP00000503893.1:n.*1918C>A
ENST00000679023.1:c.2004C>A	ENSP00000503718.1:p.Ile668=
ENST00000679076.1:c.1785C>A
ENST00000679111.1:c.*922C>A	ENSP00000504257.1:n.*922C>A
ENST00000679189.1:c.1815C>A	ENSP00000503356.1:p.Ile605=
ENST00000341012.11:c.2004C>A	ENSP00000343034.7:p.Ile668=
ENST00000372220.4:c.1029C>A	ENSP00000361294.4:p.Ile343=
ENST00000372228.7:c.2232C>A	ENSP00000361302.3:p.Ile744=
ENST00000402686.7:c.2166C>A	ENSP00000385797.3:p.Ile722=
ENST00000404875.6:c.1815C>A	ENSP00000384531.2:p.Ile605=
ENST00000423007.5:c.2166C>A	ENSP00000404119.1:p.Ile722=
ENST00000485278.5:n.2716C>A
NM_001077365.1:c.2166C>A	NP_001070833.1:p.Ile722=
NM_001077366.1:c.2004C>A	NP_001070834.1:p.Ile668=
NM_001136113.1:c.2166C>A	NP_001129585.1:p.Ile722=
NM_001136114.1:c.1815C>A	NP_001129586.1:p.Ile605=
NM_007171.3:c.2232C>A	NP_009102.3:p.Ile744=
XM_005272156.1:c.2232C>A	XP_005272213.1:p.Ile744=
XM_005272158.1:c.2070C>A	XP_005272215.1:p.Ile690=
XM_005272159.1:c.1881C>A	XP_005272216.1:p.Ile627=
XM_005272162.1:c.1035C>A	XP_005272219.1:p.Ile345=
XM_006716932.1:c.1881C>A	XP_006716995.1:p.Ile627=
XM_011518140.1:c.2085C>A	XP_011516442.1:p.Ile695=
XM_011518141.1:c.2019C>A	XP_011516443.1:p.Ile673=
XM_011518142.1:c.1923C>A	XP_011516444.1:p.Ile641=
XM_011518143.1:c.1917C>A	XP_011516445.1:p.Ile639=
XM_011518145.1:c.1776C>A	XP_011516447.1:p.Ile592=
XM_011518147.1:c.1104C>A	XP_011516449.1:p.Ile368=
XR_929703.1:n.2408C>A
NM_001353193.1:c.2232C>A	NP_001340122.1:p.Ile744=
NM_001353194.1:c.2004C>A	NP_001340123.1:p.Ile668=
NM_001353195.1:c.1815C>A	NP_001340124.1:p.Ile605=
NM_001353196.1:c.2076C>A	NP_001340125.1:p.Ile692=
NM_001353197.1:c.2070C>A	NP_001340126.1:p.Ile690=
NM_001353198.1:c.2070C>A	NP_001340127.1:p.Ile690=
NM_001353199.1:c.1881C>A	NP_001340128.1:p.Ile627=
NM_001353200.1:c.1710C>A	NP_001340129.1:p.Ile570=
NR_148391.1:n.2216C>A
NR_148392.1:n.2434C>A
NR_148393.1:n.2355C>A
NR_148394.1:n.2109C>A
NR_148395.1:n.2507C>A
NR_148396.1:n.2141C>A
NR_148397.1:n.2266C>A
NR_148398.1:n.2221C>A
NR_148399.1:n.2747C>A
NR_148400.1:n.2346C>A
XM_005272162.3:c.1035C>A	XP_005272219.1:p.Ile345=
XM_006716932.2:c.1881C>A	XP_006716995.1:p.Ile627=
XM_011518140.2:c.2085C>A	XP_011516442.1:p.Ile695=
XM_011518141.2:c.2019C>A	XP_011516443.1:p.Ile673=
XM_011518142.2:c.1923C>A	XP_011516444.1:p.Ile641=
XM_011518143.2:c.1917C>A	XP_011516445.1:p.Ile639=
XM_011518145.2:c.1776C>A	XP_011516447.1:p.Ile592=
XM_017014205.2:c.1035C>A	XP_016869694.1:p.Ile345=
XM_024447380.1:c.1035C>A	XP_024303148.1:p.Ile345=
XM_024447381.1:c.1341C>A	XP_024303149.1:p.Ile447=
XM_024447382.1:c.1035C>A	XP_024303150.1:p.Ile345=
XR_001746160.2:n.2336C>A
XR_001746162.2:n.2541C>A
XR_001746164.1:n.2258C>A
XR_001746166.2:n.2553C>A
NM_001077365.2:c.2166C>A MANE Select	NP_001070833.1:p.Ile722=
NM_001077366.2:c.2004C>A	NP_001070834.1:p.Ile668=
NM_001136113.2:c.2166C>A	NP_001129585.1:p.Ile722=
NM_001136114.2:c.1815C>A	NP_001129586.1:p.Ile605=
NM_001353193.2:c.2232C>A	NP_001340122.2:p.Ile744=
NM_001353194.2:c.2004C>A	NP_001340123.1:p.Ile668=
NM_001353195.2:c.1815C>A	NP_001340124.1:p.Ile605=
NM_001353196.2:c.2076C>A	NP_001340125.1:p.Ile692=
NM_001353197.2:c.2070C>A	NP_001340126.2:p.Ile690=
NM_001353198.2:c.2070C>A	NP_001340127.2:p.Ile690=
NM_001353199.2:c.1881C>A	NP_001340128.2:p.Ile627=
NM_001353200.2:c.1710C>A	NP_001340129.1:p.Ile570=
NM_001374689.1:c.2154C>A	NP_001361618.1:p.Ile718=
NM_001374690.1:c.1947C>A	NP_001361619.1:p.Ile649=
NM_001374691.1:c.1815C>A	NP_001361620.1:p.Ile605=
NM_001374692.1:c.1815C>A	NP_001361621.1:p.Ile605=
NM_001374693.1:c.1815C>A	NP_001361622.1:p.Ile605=
NM_001374695.1:c.1776C>A	NP_001361624.1:p.Ile592=
NM_007171.4:c.2232C>A	NP_009102.4:p.Ile744=
NR_148391.2:n.2200C>A
NR_148392.2:n.2418C>A
NR_148393.2:n.2339C>A
NR_148394.2:n.2093C>A
NR_148395.2:n.2491C>A
NR_148396.2:n.2125C>A
NR_148397.2:n.2250C>A
NR_148398.2:n.2205C>A
NR_148399.2:n.2731C>A
NR_148400.2:n.2330C>A