Canonical Allele Identifier: CA375310185

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390901T>A (hg19) ; chr9:g.131515514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515514T>A , CM000671.2:g.131515514T>A	GRCh38
NC_000009.11:g.134390901T>A , CM000671.1:g.134390901T>A	GRCh37
NC_000009.10:g.133380722T>A	NCBI36
NG_008896.1:g.17613T>A
NG_008896.2:g.17613T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1102T>A	ENSP00000343034.7:p.Trp368Arg
ENST00000404875.7:n.1804T>A
ENST00000423007.6:c.1321T>A	ENSP00000404119.2:p.Trp441Arg
ENST00000677295.2:c.*1608T>A	ENSP00000504346.2:n.*1608T>A
ENST00000678264.2:c.*1447T>A	ENSP00000503157.2:n.*1447T>A
ENST00000682070.1:n.1729T>A
ENST00000682539.1:c.89T>A
ENST00000682813.1:n.1529T>A
ENST00000683392.1:n.4011T>A
ENST00000683712.1:n.1669T>A
ENST00000683900.1:n.3164T>A
ENST00000684062.1:n.1930T>A
ENST00000684579.1:n.3110T>A
ENST00000341012.12:c.1102T>A	ENSP00000343034.7:p.Trp368Arg
ENST00000372220.5:c.133T>A	ENSP00000361294.5:p.Trp45Arg
ENST00000372228.9:c.1330T>A	ENSP00000361302.3:p.Trp444Arg
ENST00000402686.8:c.1264T>A MANE Select	ENSP00000385797.4:p.Trp422Arg
ENST00000676640.1:c.1264T>A	ENSP00000503281.1:p.Trp422Arg
ENST00000676803.1:c.439T>A	ENSP00000503093.1:p.Trp147Arg
ENST00000676835.1:c.*479T>A	ENSP00000502911.1:n.*479T>A
ENST00000677029.1:c.808T>A	ENSP00000502936.1:p.Trp270Arg
ENST00000677099.1:c.*974T>A	ENSP00000504553.1:n.*974T>A
ENST00000677216.1:c.913T>A	ENSP00000503772.1:p.Trp305Arg
ENST00000677295.1:c.*641T>A	ENSP00000504346.1:n.*641T>A
ENST00000677444.1:c.1070T>A
ENST00000677586.1:n.745T>A
ENST00000677626.1:c.913T>A	ENSP00000503552.1:p.Trp305Arg
ENST00000677677.1:n.1224T>A
ENST00000677853.1:c.*272T>A	ENSP00000503488.1:n.*272T>A
ENST00000677944.1:c.526T>A
ENST00000678264.1:c.*641T>A	ENSP00000503157.1:n.*641T>A
ENST00000678303.1:c.1174T>A	ENSP00000503696.1:p.Trp392Arg
ENST00000678366.1:c.*1513T>A	ENSP00000504353.1:n.*1513T>A
ENST00000678546.1:c.*1209T>A	ENSP00000503062.1:n.*1209T>A
ENST00000678548.1:c.*1336T>A	ENSP00000503934.1:n.*1336T>A
ENST00000678626.1:n.961T>A
ENST00000678733.1:c.345T>A
ENST00000678739.1:c.*1590T>A	ENSP00000503806.1:n.*1590T>A
ENST00000678795.1:n.351T>A
ENST00000678833.1:c.*711T>A	ENSP00000503893.1:n.*711T>A
ENST00000678942.1:c.444T>A	ENSP00000504690.1:n.444T>A
ENST00000679023.1:c.1102T>A	ENSP00000503718.1:p.Trp368Arg
ENST00000679076.1:c.883T>A
ENST00000679111.1:c.1264T>A	ENSP00000504257.1:p.Trp422Arg
ENST00000679189.1:c.913T>A	ENSP00000503356.1:p.Trp305Arg
ENST00000341012.11:c.1102T>A	ENSP00000343034.7:p.Trp368Arg
ENST00000372228.7:c.1330T>A	ENSP00000361302.3:p.Trp444Arg
ENST00000402686.7:c.1264T>A	ENSP00000385797.3:p.Trp422Arg
ENST00000404875.6:c.913T>A	ENSP00000384531.2:p.Trp305Arg
ENST00000423007.5:c.1264T>A	ENSP00000404119.1:p.Trp422Arg
ENST00000485278.5:n.1819T>A
NM_001077365.1:c.1264T>A	NP_001070833.1:p.Trp422Arg
NM_001077366.1:c.1102T>A	NP_001070834.1:p.Trp368Arg
NM_001136113.1:c.1264T>A	NP_001129585.1:p.Trp422Arg
NM_001136114.1:c.913T>A	NP_001129586.1:p.Trp305Arg
NM_007171.3:c.1330T>A	NP_009102.3:p.Trp444Arg
XM_005272156.1:c.1330T>A	XP_005272213.1:p.Trp444Arg
XM_005272158.1:c.1168T>A	XP_005272215.1:p.Trp390Arg
XM_005272159.1:c.979T>A	XP_005272216.1:p.Trp327Arg
XM_005272162.1:c.133T>A	XP_005272219.1:p.Trp45Arg
XM_006716932.1:c.979T>A	XP_006716995.1:p.Trp327Arg
XM_011518140.1:c.1183T>A	XP_011516442.1:p.Trp395Arg
XM_011518141.1:c.1117T>A	XP_011516443.1:p.Trp373Arg
XM_011518142.1:c.1021T>A	XP_011516444.1:p.Trp341Arg
XM_011518143.1:c.1015T>A	XP_011516445.1:p.Trp339Arg
XM_011518144.1:c.1330T>A	XP_011516446.1:p.Trp444Arg
XM_011518145.1:c.874T>A	XP_011516447.1:p.Trp292Arg
XM_011518146.1:c.1015T>A	XP_011516448.1:p.Trp339Arg
XR_929703.1:n.1506T>A
NM_001353193.1:c.1330T>A	NP_001340122.1:p.Trp444Arg
NM_001353194.1:c.1102T>A	NP_001340123.1:p.Trp368Arg
NM_001353195.1:c.913T>A	NP_001340124.1:p.Trp305Arg
NM_001353196.1:c.1174T>A	NP_001340125.1:p.Trp392Arg
NM_001353197.1:c.1168T>A	NP_001340126.1:p.Trp390Arg
NM_001353198.1:c.1168T>A	NP_001340127.1:p.Trp390Arg
NM_001353199.1:c.979T>A	NP_001340128.1:p.Trp327Arg
NM_001353200.1:c.808T>A	NP_001340129.1:p.Trp270Arg
NR_148391.1:n.1314T>A
NR_148392.1:n.1532T>A
NR_148393.1:n.1314T>A
NR_148394.1:n.1207T>A
NR_148395.1:n.1466T>A
NR_148396.1:n.1100T>A
NR_148397.1:n.1364T>A
NR_148398.1:n.1319T>A
NR_148399.1:n.1706T>A
NR_148400.1:n.1305T>A
XM_005272162.3:c.133T>A	XP_005272219.1:p.Trp45Arg
XM_006716932.2:c.979T>A	XP_006716995.1:p.Trp327Arg
XM_011518140.2:c.1183T>A	XP_011516442.1:p.Trp395Arg
XM_011518141.2:c.1117T>A	XP_011516443.1:p.Trp373Arg
XM_011518142.2:c.1021T>A	XP_011516444.1:p.Trp341Arg
XM_011518143.2:c.1015T>A	XP_011516445.1:p.Trp339Arg
XM_011518145.2:c.874T>A	XP_011516447.1:p.Trp292Arg
XM_017014205.2:c.133T>A	XP_016869694.1:p.Trp45Arg
XM_024447380.1:c.133T>A	XP_024303148.1:p.Trp45Arg
XM_024447381.1:c.439T>A	XP_024303149.1:p.Trp147Arg
XM_024447382.1:c.133T>A	XP_024303150.1:p.Trp45Arg
XR_001746160.2:n.1434T>A
XR_001746162.2:n.1500T>A
XR_001746164.1:n.1217T>A
XR_001746166.2:n.1651T>A
NM_001077365.2:c.1264T>A MANE Select	NP_001070833.1:p.Trp422Arg
NM_001077366.2:c.1102T>A	NP_001070834.1:p.Trp368Arg
NM_001136113.2:c.1264T>A	NP_001129585.1:p.Trp422Arg
NM_001136114.2:c.913T>A	NP_001129586.1:p.Trp305Arg
NM_001353193.2:c.1330T>A	NP_001340122.2:p.Trp444Arg
NM_001353194.2:c.1102T>A	NP_001340123.1:p.Trp368Arg
NM_001353195.2:c.913T>A	NP_001340124.1:p.Trp305Arg
NM_001353196.2:c.1174T>A	NP_001340125.1:p.Trp392Arg
NM_001353197.2:c.1168T>A	NP_001340126.2:p.Trp390Arg
NM_001353198.2:c.1168T>A	NP_001340127.2:p.Trp390Arg
NM_001353199.2:c.979T>A	NP_001340128.2:p.Trp327Arg
NM_001353200.2:c.808T>A	NP_001340129.1:p.Trp270Arg
NM_001374689.1:c.1252T>A	NP_001361618.1:p.Trp418Arg
NM_001374690.1:c.1264T>A	NP_001361619.1:p.Trp422Arg
NM_001374691.1:c.913T>A	NP_001361620.1:p.Trp305Arg
NM_001374692.1:c.913T>A	NP_001361621.1:p.Trp305Arg
NM_001374693.1:c.913T>A	NP_001361622.1:p.Trp305Arg
NM_001374695.1:c.874T>A	NP_001361624.1:p.Trp292Arg
NM_007171.4:c.1330T>A	NP_009102.4:p.Trp444Arg
NR_148391.2:n.1298T>A
NR_148392.2:n.1516T>A
NR_148393.2:n.1298T>A
NR_148394.2:n.1191T>A
NR_148395.2:n.1450T>A
NR_148396.2:n.1084T>A
NR_148397.2:n.1348T>A
NR_148398.2:n.1303T>A
NR_148399.2:n.1690T>A
NR_148400.2:n.1289T>A