Canonical Allele Identifier: CA375315233

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398411A>T (hg19) ; chr9:g.131523024A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523024A>T , CM000671.2:g.131523024A>T	GRCh38
NC_000009.11:g.134398411A>T , CM000671.1:g.134398411A>T	GRCh37
NC_000009.10:g.133388232A>T	NCBI36
NG_008896.1:g.25123A>T
NG_008896.2:g.25123A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1934A>T	ENSP00000343034.7:p.Tyr645Phe
ENST00000404875.7:n.2636A>T
ENST00000423007.6:c.2153A>T	ENSP00000404119.2:p.Tyr718Phe
ENST00000677295.2:c.*2440A>T	ENSP00000504346.2:n.*2440A>T
ENST00000678264.2:c.*2279A>T	ENSP00000503157.2:n.*2279A>T
ENST00000682070.1:n.2406A>T
ENST00000682639.1:c.93A>T
ENST00000682813.1:n.2493A>T
ENST00000683231.1:c.93A>T
ENST00000683392.1:n.4688A>T
ENST00000683712.1:n.2501A>T
ENST00000683900.1:n.3996A>T
ENST00000684062.1:n.2762A>T
ENST00000684399.1:c.93A>T
ENST00000684579.1:n.3942A>T
ENST00000341012.12:c.1934A>T	ENSP00000343034.7:p.Tyr645Phe
ENST00000372220.5:c.965A>T	ENSP00000361294.5:p.Tyr322Phe
ENST00000372228.9:c.2162A>T	ENSP00000361302.3:p.Tyr721Phe
ENST00000402686.8:c.2096A>T MANE Select	ENSP00000385797.4:p.Tyr699Phe
ENST00000676640.1:c.2096A>T	ENSP00000503281.1:p.Tyr699Phe
ENST00000676803.1:c.1157A>T	ENSP00000503093.1:p.Tyr386Phe
ENST00000676835.1:c.*1311A>T	ENSP00000502911.1:n.*1311A>T
ENST00000677029.1:c.1640A>T	ENSP00000502936.1:p.Tyr547Phe
ENST00000677099.1:c.*1806A>T	ENSP00000504553.1:n.*1806A>T
ENST00000677216.1:c.1745A>T	ENSP00000503772.1:p.Tyr582Phe
ENST00000677295.1:c.*1318A>T	ENSP00000504346.1:n.*1318A>T
ENST00000677444.1:c.2041A>T
ENST00000677586.1:n.1463A>T
ENST00000677626.1:c.1745A>T	ENSP00000503552.1:p.Tyr582Phe
ENST00000677853.1:c.*1104A>T	ENSP00000503488.1:n.*1104A>T
ENST00000678264.1:c.*1473A>T	ENSP00000503157.1:n.*1473A>T
ENST00000678303.1:c.2006A>T	ENSP00000503696.1:p.Tyr669Phe
ENST00000678366.1:c.*2345A>T	ENSP00000504353.1:n.*2345A>T
ENST00000678546.1:c.*2041A>T	ENSP00000503062.1:n.*2041A>T
ENST00000678548.1:c.*2235A>T	ENSP00000503934.1:n.*2235A>T
ENST00000678626.1:n.1932A>T
ENST00000678739.1:c.*2262A>T	ENSP00000503806.1:n.*2262A>T
ENST00000678833.1:c.*1848A>T	ENSP00000503893.1:n.*1848A>T
ENST00000679023.1:c.1934A>T	ENSP00000503718.1:p.Tyr645Phe
ENST00000679076.1:c.1715A>T
ENST00000679111.1:c.*852A>T	ENSP00000504257.1:n.*852A>T
ENST00000679189.1:c.1745A>T	ENSP00000503356.1:p.Tyr582Phe
ENST00000341012.11:c.1934A>T	ENSP00000343034.7:p.Tyr645Phe
ENST00000372220.4:c.959A>T	ENSP00000361294.4:p.Tyr320Phe
ENST00000372228.7:c.2162A>T	ENSP00000361302.3:p.Tyr721Phe
ENST00000402686.7:c.2096A>T	ENSP00000385797.3:p.Tyr699Phe
ENST00000404875.6:c.1745A>T	ENSP00000384531.2:p.Tyr582Phe
ENST00000423007.5:c.2096A>T	ENSP00000404119.1:p.Tyr699Phe
ENST00000485278.5:n.2646A>T
NM_001077365.1:c.2096A>T	NP_001070833.1:p.Tyr699Phe
NM_001077366.1:c.1934A>T	NP_001070834.1:p.Tyr645Phe
NM_001136113.1:c.2096A>T	NP_001129585.1:p.Tyr699Phe
NM_001136114.1:c.1745A>T	NP_001129586.1:p.Tyr582Phe
NM_007171.3:c.2162A>T	NP_009102.3:p.Tyr721Phe
XM_005272156.1:c.2162A>T	XP_005272213.1:p.Tyr721Phe
XM_005272158.1:c.2000A>T	XP_005272215.1:p.Tyr667Phe
XM_005272159.1:c.1811A>T	XP_005272216.1:p.Tyr604Phe
XM_005272162.1:c.965A>T	XP_005272219.1:p.Tyr322Phe
XM_006716932.1:c.1811A>T	XP_006716995.1:p.Tyr604Phe
XM_011518140.1:c.2015A>T	XP_011516442.1:p.Tyr672Phe
XM_011518141.1:c.1949A>T	XP_011516443.1:p.Tyr650Phe
XM_011518142.1:c.1853A>T	XP_011516444.1:p.Tyr618Phe
XM_011518143.1:c.1847A>T	XP_011516445.1:p.Tyr616Phe
XM_011518145.1:c.1706A>T	XP_011516447.1:p.Tyr569Phe
XM_011518147.1:c.1034A>T	XP_011516449.1:p.Tyr345Phe
XR_929703.1:n.2338A>T
NM_001353193.1:c.2162A>T	NP_001340122.1:p.Tyr721Phe
NM_001353194.1:c.1934A>T	NP_001340123.1:p.Tyr645Phe
NM_001353195.1:c.1745A>T	NP_001340124.1:p.Tyr582Phe
NM_001353196.1:c.2006A>T	NP_001340125.1:p.Tyr669Phe
NM_001353197.1:c.2000A>T	NP_001340126.1:p.Tyr667Phe
NM_001353198.1:c.2000A>T	NP_001340127.1:p.Tyr667Phe
NM_001353199.1:c.1811A>T	NP_001340128.1:p.Tyr604Phe
NM_001353200.1:c.1640A>T	NP_001340129.1:p.Tyr547Phe
NR_148391.1:n.2146A>T
NR_148392.1:n.2364A>T
NR_148393.1:n.2285A>T
NR_148394.1:n.2039A>T
NR_148395.1:n.2437A>T
NR_148396.1:n.2071A>T
NR_148397.1:n.2196A>T
NR_148398.1:n.2151A>T
NR_148399.1:n.2677A>T
NR_148400.1:n.2276A>T
XM_005272162.3:c.965A>T	XP_005272219.1:p.Tyr322Phe
XM_006716932.2:c.1811A>T	XP_006716995.1:p.Tyr604Phe
XM_011518140.2:c.2015A>T	XP_011516442.1:p.Tyr672Phe
XM_011518141.2:c.1949A>T	XP_011516443.1:p.Tyr650Phe
XM_011518142.2:c.1853A>T	XP_011516444.1:p.Tyr618Phe
XM_011518143.2:c.1847A>T	XP_011516445.1:p.Tyr616Phe
XM_011518145.2:c.1706A>T	XP_011516447.1:p.Tyr569Phe
XM_017014205.2:c.965A>T	XP_016869694.1:p.Tyr322Phe
XM_024447380.1:c.965A>T	XP_024303148.1:p.Tyr322Phe
XM_024447381.1:c.1271A>T	XP_024303149.1:p.Tyr424Phe
XM_024447382.1:c.965A>T	XP_024303150.1:p.Tyr322Phe
XR_001746160.2:n.2266A>T
XR_001746162.2:n.2471A>T
XR_001746164.1:n.2188A>T
XR_001746166.2:n.2483A>T
NM_001077365.2:c.2096A>T MANE Select	NP_001070833.1:p.Tyr699Phe
NM_001077366.2:c.1934A>T	NP_001070834.1:p.Tyr645Phe
NM_001136113.2:c.2096A>T	NP_001129585.1:p.Tyr699Phe
NM_001136114.2:c.1745A>T	NP_001129586.1:p.Tyr582Phe
NM_001353193.2:c.2162A>T	NP_001340122.2:p.Tyr721Phe
NM_001353194.2:c.1934A>T	NP_001340123.1:p.Tyr645Phe
NM_001353195.2:c.1745A>T	NP_001340124.1:p.Tyr582Phe
NM_001353196.2:c.2006A>T	NP_001340125.1:p.Tyr669Phe
NM_001353197.2:c.2000A>T	NP_001340126.2:p.Tyr667Phe
NM_001353198.2:c.2000A>T	NP_001340127.2:p.Tyr667Phe
NM_001353199.2:c.1811A>T	NP_001340128.2:p.Tyr604Phe
NM_001353200.2:c.1640A>T	NP_001340129.1:p.Tyr547Phe
NM_001374689.1:c.2084A>T	NP_001361618.1:p.Tyr695Phe
NM_001374690.1:c.1877A>T	NP_001361619.1:p.Tyr626Phe
NM_001374691.1:c.1745A>T	NP_001361620.1:p.Tyr582Phe
NM_001374692.1:c.1745A>T	NP_001361621.1:p.Tyr582Phe
NM_001374693.1:c.1745A>T	NP_001361622.1:p.Tyr582Phe
NM_001374695.1:c.1706A>T	NP_001361624.1:p.Tyr569Phe
NM_007171.4:c.2162A>T	NP_009102.4:p.Tyr721Phe
NR_148391.2:n.2130A>T
NR_148392.2:n.2348A>T
NR_148393.2:n.2269A>T
NR_148394.2:n.2023A>T
NR_148395.2:n.2421A>T
NR_148396.2:n.2055A>T
NR_148397.2:n.2180A>T
NR_148398.2:n.2135A>T
NR_148399.2:n.2661A>T
NR_148400.2:n.2260A>T