Canonical Allele Identifier: CA1881760617

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523106G= , CM000671.2:g.131523106G=	GRCh38
NC_000009.11:g.134398493G= , CM000671.1:g.134398493G=	GRCh37
NC_000009.10:g.133388314G=	NCBI36
NG_008896.1:g.25205G=
NG_008896.2:g.25205G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2016G=	ENSP00000343034.7:p.Ter672=
ENST00000404875.7:n.2718G=
ENST00000423007.6:c.2235G=	ENSP00000404119.2:p.Ter745=
ENST00000677295.2:c.*2522G=	ENSP00000504346.2:n.*2522G=
ENST00000678264.2:c.*2361G=	ENSP00000503157.2:n.*2361G=
ENST00000682070.1:n.2488G=
ENST00000682639.1:c.175G=
ENST00000682813.1:n.2575G=
ENST00000683231.1:c.175G=
ENST00000683392.1:n.4770G=
ENST00000683712.1:n.2583G=
ENST00000683900.1:n.4078G=
ENST00000684062.1:n.2844G=
ENST00000684399.1:c.175G=
ENST00000684579.1:n.4024G=
ENST00000341012.12:c.2016G=	ENSP00000343034.7:p.Ter672=
ENST00000372220.5:c.1047G=	ENSP00000361294.5:p.Ter349=
ENST00000372228.9:c.2244G=	ENSP00000361302.3:p.Ter748=
ENST00000402686.8:c.2178G= MANE Select	ENSP00000385797.4:p.Ter726=
ENST00000676640.1:c.2178G=	ENSP00000503281.1:p.Ter726=
ENST00000676803.1:c.1239G=	ENSP00000503093.1:p.Ter413=
ENST00000676835.1:c.*1393G=	ENSP00000502911.1:n.*1393G=
ENST00000677029.1:c.1722G=	ENSP00000502936.1:p.Ter574=
ENST00000677099.1:c.*1888G=	ENSP00000504553.1:n.*1888G=
ENST00000677216.1:c.1827G=	ENSP00000503772.1:p.Ter609=
ENST00000677295.1:c.*1400G=	ENSP00000504346.1:n.*1400G=
ENST00000677444.1:c.2123G=
ENST00000677586.1:n.1545G=
ENST00000677626.1:c.1827G=	ENSP00000503552.1:p.Ter609=
ENST00000677853.1:c.*1186G=	ENSP00000503488.1:n.*1186G=
ENST00000678264.1:c.*1555G=	ENSP00000503157.1:n.*1555G=
ENST00000678303.1:c.2088G=	ENSP00000503696.1:p.Ter696=
ENST00000678366.1:c.*2427G=	ENSP00000504353.1:n.*2427G=
ENST00000678546.1:c.*2123G=	ENSP00000503062.1:n.*2123G=
ENST00000678548.1:c.*2317G=	ENSP00000503934.1:n.*2317G=
ENST00000678626.1:n.2014G=
ENST00000678739.1:c.*2344G=	ENSP00000503806.1:n.*2344G=
ENST00000678833.1:c.*1930G=	ENSP00000503893.1:n.*1930G=
ENST00000679023.1:c.2016G=	ENSP00000503718.1:p.Ter672=
ENST00000679076.1:c.1797G=
ENST00000679111.1:c.*934G=	ENSP00000504257.1:n.*934G=
ENST00000679189.1:c.1827G=	ENSP00000503356.1:p.Ter609=
ENST00000341012.11:c.2016G=	ENSP00000343034.7:p.Ter672=
ENST00000372220.4:c.1041G=	ENSP00000361294.4:p.Ter347=
ENST00000372228.7:c.2244G=	ENSP00000361302.3:p.Ter748=
ENST00000402686.7:c.2178G=	ENSP00000385797.3:p.Ter726=
ENST00000404875.6:c.1827G=	ENSP00000384531.2:p.Ter609=
ENST00000423007.5:c.2178G=	ENSP00000404119.1:p.Ter726=
ENST00000485278.5:n.2728G=
NM_001077365.1:c.2178G=	NP_001070833.1:p.Ter726=
NM_001077366.1:c.2016G=	NP_001070834.1:p.Ter672=
NM_001136113.1:c.2178G=	NP_001129585.1:p.Ter726=
NM_001136114.1:c.1827G=	NP_001129586.1:p.Ter609=
NM_007171.3:c.2244G=	NP_009102.3:p.Ter748=
XM_005272156.1:c.2244G=	XP_005272213.1:p.Ter748=
XM_005272158.1:c.2082G=	XP_005272215.1:p.Ter694=
XM_005272159.1:c.1893G=	XP_005272216.1:p.Ter631=
XM_005272162.1:c.1047G=	XP_005272219.1:p.Ter349=
XM_006716932.1:c.1893G=	XP_006716995.1:p.Ter631=
XM_011518140.1:c.2097G=	XP_011516442.1:p.Ter699=
XM_011518141.1:c.2031G=	XP_011516443.1:p.Ter677=
XM_011518142.1:c.1935G=	XP_011516444.1:p.Ter645=
XM_011518143.1:c.1929G=	XP_011516445.1:p.Ter643=
XM_011518145.1:c.1788G=	XP_011516447.1:p.Ter596=
XM_011518147.1:c.1116G=	XP_011516449.1:p.Ter372=
XR_929703.1:n.2420G=
NM_001353193.1:c.2244G=	NP_001340122.1:p.Ter748=
NM_001353194.1:c.2016G=	NP_001340123.1:p.Ter672=
NM_001353195.1:c.1827G=	NP_001340124.1:p.Ter609=
NM_001353196.1:c.2088G=	NP_001340125.1:p.Ter696=
NM_001353197.1:c.2082G=	NP_001340126.1:p.Ter694=
NM_001353198.1:c.2082G=	NP_001340127.1:p.Ter694=
NM_001353199.1:c.1893G=	NP_001340128.1:p.Ter631=
NM_001353200.1:c.1722G=	NP_001340129.1:p.Ter574=
NR_148391.1:n.2228G=
NR_148392.1:n.2446G=
NR_148393.1:n.2367G=
NR_148394.1:n.2121G=
NR_148395.1:n.2519G=
NR_148396.1:n.2153G=
NR_148397.1:n.2278G=
NR_148398.1:n.2233G=
NR_148399.1:n.2759G=
NR_148400.1:n.2358G=
XM_005272162.3:c.1047G=	XP_005272219.1:p.Ter349=
XM_006716932.2:c.1893G=	XP_006716995.1:p.Ter631=
XM_011518140.2:c.2097G=	XP_011516442.1:p.Ter699=
XM_011518141.2:c.2031G=	XP_011516443.1:p.Ter677=
XM_011518142.2:c.1935G=	XP_011516444.1:p.Ter645=
XM_011518143.2:c.1929G=	XP_011516445.1:p.Ter643=
XM_011518145.2:c.1788G=	XP_011516447.1:p.Ter596=
XM_017014205.2:c.1047G=	XP_016869694.1:p.Ter349=
XM_024447380.1:c.1047G=	XP_024303148.1:p.Ter349=
XM_024447381.1:c.1353G=	XP_024303149.1:p.Ter451=
XM_024447382.1:c.1047G=	XP_024303150.1:p.Ter349=
XR_001746160.2:n.2348G=
XR_001746162.2:n.2553G=
XR_001746164.1:n.2270G=
XR_001746166.2:n.2565G=
NM_001077365.2:c.2178G= MANE Select	NP_001070833.1:p.Ter726=
NM_001077366.2:c.2016G=	NP_001070834.1:p.Ter672=
NM_001136113.2:c.2178G=	NP_001129585.1:p.Ter726=
NM_001136114.2:c.1827G=	NP_001129586.1:p.Ter609=
NM_001353193.2:c.2244G=	NP_001340122.2:p.Ter748=
NM_001353194.2:c.2016G=	NP_001340123.1:p.Ter672=
NM_001353195.2:c.1827G=	NP_001340124.1:p.Ter609=
NM_001353196.2:c.2088G=	NP_001340125.1:p.Ter696=
NM_001353197.2:c.2082G=	NP_001340126.2:p.Ter694=
NM_001353198.2:c.2082G=	NP_001340127.2:p.Ter694=
NM_001353199.2:c.1893G=	NP_001340128.2:p.Ter631=
NM_001353200.2:c.1722G=	NP_001340129.1:p.Ter574=
NM_001374689.1:c.2166G=	NP_001361618.1:p.Ter722=
NM_001374690.1:c.1959G=	NP_001361619.1:p.Ter653=
NM_001374691.1:c.1827G=	NP_001361620.1:p.Ter609=
NM_001374692.1:c.1827G=	NP_001361621.1:p.Ter609=
NM_001374693.1:c.1827G=	NP_001361622.1:p.Ter609=
NM_001374695.1:c.1788G=	NP_001361624.1:p.Ter596=
NM_007171.4:c.2244G=	NP_009102.4:p.Ter748=
NR_148391.2:n.2212G=
NR_148392.2:n.2430G=
NR_148393.2:n.2351G=
NR_148394.2:n.2105G=
NR_148395.2:n.2503G=
NR_148396.2:n.2137G=
NR_148397.2:n.2262G=
NR_148398.2:n.2217G=
NR_148399.2:n.2743G=
NR_148400.2:n.2342G=