Canonical Allele Identifier: CA658657914
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131511357T= , CM000671.2:g.131511357T= GRCh38
NC_000009.11:g.134386744T= , CM000671.1:g.134386744T= GRCh37
NC_000009.10:g.133376565T= NCBI36
NG_008896.2:g.13456T=

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.714T= ENSP00000343034.7:p.Thr238=
ENST00000404875.7:n.1248T=
ENST00000423007.6:c.933T= ENSP00000404119.2:p.Thr311=
ENST00000677295.2:c.*1215T= ENSP00000504346.2:n.*1215T=
ENST00000678264.2:c.*1059T= ENSP00000503157.2:n.*1059T=
ENST00000678942.2:c.*429T= ENSP00000504690.2:n.*429T=
ENST00000682070.1:n.1336T=
ENST00000682813.1:n.1141T=
ENST00000683134.1:c.243T=
ENST00000683392.1:n.3623T=
ENST00000683712.1:n.1276T=
ENST00000683900.1:n.2203T=
ENST00000684062.1:n.1542T=
ENST00000684579.1:n.2717T=
ENST00000341012.12:c.714T= ENSP00000343034.7:p.Thr238=
ENST00000372220.5:c.-145-684T= ENSP00000361294.5:n.-145-684T=
ENST00000372228.9:c.942T= ENSP00000361302.3:p.Thr314=
ENST00000402686.8:c.876T= MANE Select ENSP00000385797.4:p.Thr292=
ENST00000415075.6:c.*329T= ENSP00000405149.2:n.*329T=
ENST00000676640.1:c.876T= ENSP00000503281.1:p.Thr292=
ENST00000676803.1:c.51T= ENSP00000503093.1:p.Thr17=
ENST00000676835.1:c.*86T= ENSP00000502911.1:n.*86T=
ENST00000677029.1:c.420T= ENSP00000502936.1:p.Thr140=
ENST00000677099.1:c.*586T= ENSP00000504553.1:n.*586T=
ENST00000677216.1:c.525T= ENSP00000503772.1:p.Thr175=
ENST00000677293.1:c.51T= ENSP00000504278.1:p.Thr17=
ENST00000677295.1:c.*248T= ENSP00000504346.1:n.*248T=
ENST00000677444.1:c.682T=
ENST00000677586.1:n.357T=
ENST00000677626.1:c.714T= ENSP00000503552.1:p.Thr238=
ENST00000677677.1:n.836T=
ENST00000677853.1:c.457T= ENSP00000503488.1:p.Ser153=
ENST00000677944.1:c.138T=
ENST00000678264.1:c.*248T= ENSP00000503157.1:n.*248T=
ENST00000678303.1:c.786T= ENSP00000503696.1:p.Thr262=
ENST00000678366.1:c.*1125T= ENSP00000504353.1:n.*1125T=
ENST00000678546.1:c.*248T= ENSP00000503062.1:n.*248T=
ENST00000678548.1:c.*943T= ENSP00000503934.1:n.*943T=
ENST00000678626.1:n.568T=
ENST00000678707.1:n.514T=
ENST00000678733.1:c.50T=
ENST00000678739.1:c.*1197T= ENSP00000503806.1:n.*1197T=
ENST00000678833.1:c.*323T= ENSP00000503893.1:n.*323T=
ENST00000678942.1:c.51T= ENSP00000504690.1:p.Thr17=
ENST00000679023.1:c.714T= ENSP00000503718.1:p.Thr238=
ENST00000679073.1:c.254T= ENSP00000504356.1:n.254T=
ENST00000679076.1:c.490T=
ENST00000679111.1:c.876T= ENSP00000504257.1:p.Thr292=
ENST00000679189.1:c.525T= ENSP00000503356.1:p.Thr175=
ENST00000341012.11:c.714T= ENSP00000343034.7:p.Thr238=
ENST00000372228.7:c.942T= ENSP00000361302.3:p.Thr314=
ENST00000402686.7:c.876T= ENSP00000385797.3:p.Thr292=
ENST00000404875.6:c.525T= ENSP00000384531.2:p.Thr175=
ENST00000415075.5:c.268T= ENSP00000405149.1:p.Ser90=
ENST00000423007.5:c.876T= ENSP00000404119.1:p.Thr292=
ENST00000441334.5:c.591T= ENSP00000395060.1:p.Thr197=
ENST00000462375.5:n.697T=
ENST00000485278.5:n.858T=
XM_005272156.1:c.942T= XP_005272213.1:p.Thr314=
XM_005272158.1:c.780T= XP_005272215.1:p.Thr260=
XM_005272159.1:c.591T= XP_005272216.1:p.Thr197=
XM_005272162.1:c.-261T= XP_005272219.1:n.-261T=
XM_006716932.1:c.591T= XP_006716995.1:p.Thr197=
XM_011518140.1:c.795T= XP_011516442.1:p.Thr265=
XM_011518141.1:c.729T= XP_011516443.1:p.Thr243=
XM_011518142.1:c.633T= XP_011516444.1:p.Thr211=
XM_011518143.1:c.622T= XP_011516445.1:p.Ser208=
XM_011518144.1:c.942T= XP_011516446.1:p.Thr314=
XM_011518145.1:c.486T= XP_011516447.1:p.Thr162=
XM_011518146.1:c.622T= XP_011516448.1:p.Ser208=
XR_929703.1:n.1118T=
XM_005272162.3:c.-261T= XP_005272219.1:n.-261T=
XM_006716932.2:c.591T= XP_006716995.1:p.Thr197=
XM_011518140.2:c.795T= XP_011516442.1:p.Thr265=
XM_011518141.2:c.729T= XP_011516443.1:p.Thr243=
XM_011518142.2:c.633T= XP_011516444.1:p.Thr211=
XM_011518143.2:c.622T= XP_011516445.1:p.Ser208=
XM_011518145.2:c.486T= XP_011516447.1:p.Thr162=
XM_017014205.2:c.-261T= XP_016869694.1:n.-261T=
XM_024447380.1:c.-261T= XP_024303148.1:n.-261T=
XM_024447381.1:c.51T= XP_024303149.1:p.Thr17=
XM_024447382.1:c.-261T= XP_024303150.1:n.-261T=
XR_001746160.2:n.1046T=
XR_001746162.2:n.1112T=
XR_001746164.1:n.824T=
XR_001746166.2:n.1263T=
NM_001077365.2:c.876T= MANE Select NP_001070833.1:p.Thr292=
NM_001077366.2:c.714T= NP_001070834.1:p.Thr238=
NM_001136113.2:c.876T= NP_001129585.1:p.Thr292=
NM_001136114.2:c.525T= NP_001129586.1:p.Thr175=
NM_001353193.2:c.942T= NP_001340122.2:p.Thr314=
NM_001353194.2:c.714T= NP_001340123.1:p.Thr238=
NM_001353195.2:c.525T= NP_001340124.1:p.Thr175=
NM_001353196.2:c.786T= NP_001340125.1:p.Thr262=
NM_001353197.2:c.780T= NP_001340126.2:p.Thr260=
NM_001353198.2:c.780T= NP_001340127.2:p.Thr260=
NM_001353199.2:c.591T= NP_001340128.2:p.Thr197=
NM_001353200.2:c.420T= NP_001340129.1:p.Thr140=
NM_001374689.1:c.859T= NP_001361618.1:p.Ser287=
NM_001374690.1:c.876T= NP_001361619.1:p.Thr292=
NM_001374691.1:c.525T= NP_001361620.1:p.Thr175=
NM_001374692.1:c.525T= NP_001361621.1:p.Thr175=
NM_001374693.1:c.714T= NP_001361622.1:p.Thr238=
NM_001374695.1:c.486T= NP_001361624.1:p.Thr162=
NM_007171.4:c.942T= NP_009102.4:p.Thr314=
NR_148391.2:n.910T=
NR_148392.2:n.1128T=
NR_148393.2:n.910T=
NR_148394.2:n.798T=
NR_148395.2:n.1062T=
NR_148396.2:n.691T=
NR_148397.2:n.955T=
NR_148398.2:n.910T=
NR_148399.2:n.1302T=
NR_148400.2:n.896T=