Canonical Allele Identifier: CA375315424

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398464A>T (hg19) ; chr9:g.131523077A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523077A>T , CM000671.2:g.131523077A>T	GRCh38
NC_000009.11:g.134398464A>T , CM000671.1:g.134398464A>T	GRCh37
NC_000009.10:g.133388285A>T	NCBI36
NG_008896.1:g.25176A>T
NG_008896.2:g.25176A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1987A>T	ENSP00000343034.7:p.Ser663Cys
ENST00000404875.7:n.2689A>T
ENST00000423007.6:c.2206A>T	ENSP00000404119.2:p.Ser736Cys
ENST00000677295.2:c.*2493A>T	ENSP00000504346.2:n.*2493A>T
ENST00000678264.2:c.*2332A>T	ENSP00000503157.2:n.*2332A>T
ENST00000682070.1:n.2459A>T
ENST00000682639.1:c.146A>T
ENST00000682813.1:n.2546A>T
ENST00000683231.1:c.146A>T
ENST00000683392.1:n.4741A>T
ENST00000683712.1:n.2554A>T
ENST00000683900.1:n.4049A>T
ENST00000684062.1:n.2815A>T
ENST00000684399.1:c.146A>T
ENST00000684579.1:n.3995A>T
ENST00000341012.12:c.1987A>T	ENSP00000343034.7:p.Ser663Cys
ENST00000372220.5:c.1018A>T	ENSP00000361294.5:p.Ser340Cys
ENST00000372228.9:c.2215A>T	ENSP00000361302.3:p.Ser739Cys
ENST00000402686.8:c.2149A>T MANE Select	ENSP00000385797.4:p.Ser717Cys
ENST00000676640.1:c.2149A>T	ENSP00000503281.1:p.Ser717Cys
ENST00000676803.1:c.1210A>T	ENSP00000503093.1:p.Ser404Cys
ENST00000676835.1:c.*1364A>T	ENSP00000502911.1:n.*1364A>T
ENST00000677029.1:c.1693A>T	ENSP00000502936.1:p.Ser565Cys
ENST00000677099.1:c.*1859A>T	ENSP00000504553.1:n.*1859A>T
ENST00000677216.1:c.1798A>T	ENSP00000503772.1:p.Ser600Cys
ENST00000677295.1:c.*1371A>T	ENSP00000504346.1:n.*1371A>T
ENST00000677444.1:c.2094A>T
ENST00000677586.1:n.1516A>T
ENST00000677626.1:c.1798A>T	ENSP00000503552.1:p.Ser600Cys
ENST00000677853.1:c.*1157A>T	ENSP00000503488.1:n.*1157A>T
ENST00000678264.1:c.*1526A>T	ENSP00000503157.1:n.*1526A>T
ENST00000678303.1:c.2059A>T	ENSP00000503696.1:p.Ser687Cys
ENST00000678366.1:c.*2398A>T	ENSP00000504353.1:n.*2398A>T
ENST00000678546.1:c.*2094A>T	ENSP00000503062.1:n.*2094A>T
ENST00000678548.1:c.*2288A>T	ENSP00000503934.1:n.*2288A>T
ENST00000678626.1:n.1985A>T
ENST00000678739.1:c.*2315A>T	ENSP00000503806.1:n.*2315A>T
ENST00000678833.1:c.*1901A>T	ENSP00000503893.1:n.*1901A>T
ENST00000679023.1:c.1987A>T	ENSP00000503718.1:p.Ser663Cys
ENST00000679076.1:c.1768A>T
ENST00000679111.1:c.*905A>T	ENSP00000504257.1:n.*905A>T
ENST00000679189.1:c.1798A>T	ENSP00000503356.1:p.Ser600Cys
ENST00000341012.11:c.1987A>T	ENSP00000343034.7:p.Ser663Cys
ENST00000372220.4:c.1012A>T	ENSP00000361294.4:p.Ser338Cys
ENST00000372228.7:c.2215A>T	ENSP00000361302.3:p.Ser739Cys
ENST00000402686.7:c.2149A>T	ENSP00000385797.3:p.Ser717Cys
ENST00000404875.6:c.1798A>T	ENSP00000384531.2:p.Ser600Cys
ENST00000423007.5:c.2149A>T	ENSP00000404119.1:p.Ser717Cys
ENST00000485278.5:n.2699A>T
NM_001077365.1:c.2149A>T	NP_001070833.1:p.Ser717Cys
NM_001077366.1:c.1987A>T	NP_001070834.1:p.Ser663Cys
NM_001136113.1:c.2149A>T	NP_001129585.1:p.Ser717Cys
NM_001136114.1:c.1798A>T	NP_001129586.1:p.Ser600Cys
NM_007171.3:c.2215A>T	NP_009102.3:p.Ser739Cys
XM_005272156.1:c.2215A>T	XP_005272213.1:p.Ser739Cys
XM_005272158.1:c.2053A>T	XP_005272215.1:p.Ser685Cys
XM_005272159.1:c.1864A>T	XP_005272216.1:p.Ser622Cys
XM_005272162.1:c.1018A>T	XP_005272219.1:p.Ser340Cys
XM_006716932.1:c.1864A>T	XP_006716995.1:p.Ser622Cys
XM_011518140.1:c.2068A>T	XP_011516442.1:p.Ser690Cys
XM_011518141.1:c.2002A>T	XP_011516443.1:p.Ser668Cys
XM_011518142.1:c.1906A>T	XP_011516444.1:p.Ser636Cys
XM_011518143.1:c.1900A>T	XP_011516445.1:p.Ser634Cys
XM_011518145.1:c.1759A>T	XP_011516447.1:p.Ser587Cys
XM_011518147.1:c.1087A>T	XP_011516449.1:p.Ser363Cys
XR_929703.1:n.2391A>T
NM_001353193.1:c.2215A>T	NP_001340122.1:p.Ser739Cys
NM_001353194.1:c.1987A>T	NP_001340123.1:p.Ser663Cys
NM_001353195.1:c.1798A>T	NP_001340124.1:p.Ser600Cys
NM_001353196.1:c.2059A>T	NP_001340125.1:p.Ser687Cys
NM_001353197.1:c.2053A>T	NP_001340126.1:p.Ser685Cys
NM_001353198.1:c.2053A>T	NP_001340127.1:p.Ser685Cys
NM_001353199.1:c.1864A>T	NP_001340128.1:p.Ser622Cys
NM_001353200.1:c.1693A>T	NP_001340129.1:p.Ser565Cys
NR_148391.1:n.2199A>T
NR_148392.1:n.2417A>T
NR_148393.1:n.2338A>T
NR_148394.1:n.2092A>T
NR_148395.1:n.2490A>T
NR_148396.1:n.2124A>T
NR_148397.1:n.2249A>T
NR_148398.1:n.2204A>T
NR_148399.1:n.2730A>T
NR_148400.1:n.2329A>T
XM_005272162.3:c.1018A>T	XP_005272219.1:p.Ser340Cys
XM_006716932.2:c.1864A>T	XP_006716995.1:p.Ser622Cys
XM_011518140.2:c.2068A>T	XP_011516442.1:p.Ser690Cys
XM_011518141.2:c.2002A>T	XP_011516443.1:p.Ser668Cys
XM_011518142.2:c.1906A>T	XP_011516444.1:p.Ser636Cys
XM_011518143.2:c.1900A>T	XP_011516445.1:p.Ser634Cys
XM_011518145.2:c.1759A>T	XP_011516447.1:p.Ser587Cys
XM_017014205.2:c.1018A>T	XP_016869694.1:p.Ser340Cys
XM_024447380.1:c.1018A>T	XP_024303148.1:p.Ser340Cys
XM_024447381.1:c.1324A>T	XP_024303149.1:p.Ser442Cys
XM_024447382.1:c.1018A>T	XP_024303150.1:p.Ser340Cys
XR_001746160.2:n.2319A>T
XR_001746162.2:n.2524A>T
XR_001746164.1:n.2241A>T
XR_001746166.2:n.2536A>T
NM_001077365.2:c.2149A>T MANE Select	NP_001070833.1:p.Ser717Cys
NM_001077366.2:c.1987A>T	NP_001070834.1:p.Ser663Cys
NM_001136113.2:c.2149A>T	NP_001129585.1:p.Ser717Cys
NM_001136114.2:c.1798A>T	NP_001129586.1:p.Ser600Cys
NM_001353193.2:c.2215A>T	NP_001340122.2:p.Ser739Cys
NM_001353194.2:c.1987A>T	NP_001340123.1:p.Ser663Cys
NM_001353195.2:c.1798A>T	NP_001340124.1:p.Ser600Cys
NM_001353196.2:c.2059A>T	NP_001340125.1:p.Ser687Cys
NM_001353197.2:c.2053A>T	NP_001340126.2:p.Ser685Cys
NM_001353198.2:c.2053A>T	NP_001340127.2:p.Ser685Cys
NM_001353199.2:c.1864A>T	NP_001340128.2:p.Ser622Cys
NM_001353200.2:c.1693A>T	NP_001340129.1:p.Ser565Cys
NM_001374689.1:c.2137A>T	NP_001361618.1:p.Ser713Cys
NM_001374690.1:c.1930A>T	NP_001361619.1:p.Ser644Cys
NM_001374691.1:c.1798A>T	NP_001361620.1:p.Ser600Cys
NM_001374692.1:c.1798A>T	NP_001361621.1:p.Ser600Cys
NM_001374693.1:c.1798A>T	NP_001361622.1:p.Ser600Cys
NM_001374695.1:c.1759A>T	NP_001361624.1:p.Ser587Cys
NM_007171.4:c.2215A>T	NP_009102.4:p.Ser739Cys
NR_148391.2:n.2183A>T
NR_148392.2:n.2401A>T
NR_148393.2:n.2322A>T
NR_148394.2:n.2076A>T
NR_148395.2:n.2474A>T
NR_148396.2:n.2108A>T
NR_148397.2:n.2233A>T
NR_148398.2:n.2188A>T
NR_148399.2:n.2714A>T
NR_148400.2:n.2313A>T