Canonical Allele Identifier: CA375313692

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521380G>A , CM000671.2:g.131521380G>A	GRCh38
NC_000009.11:g.134396767G>A , CM000671.1:g.134396767G>A	GRCh37
NC_000009.10:g.133386588G>A	NCBI36
NG_008896.1:g.23479G>A
NG_008896.2:g.23479G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1733G>A MANE Select	NP_001070833.1:p.Trp578Ter
ENST00000402686.8:c.1733G>A MANE Select	ENSP00000385797.4:p.Trp578Ter
NM_001077365.1:c.1733G>A	NP_001070833.1:p.Trp578Ter
NM_001077366.1:c.1571G>A	NP_001070834.1:p.Trp524Ter
NM_001077366.2:c.1571G>A	NP_001070834.1:p.Trp524Ter
NM_001136113.1:c.1733G>A	NP_001129585.1:p.Trp578Ter
NM_001136113.2:c.1733G>A	NP_001129585.1:p.Trp578Ter
NM_001136114.1:c.1382G>A	NP_001129586.1:p.Trp461Ter
NM_001136114.2:c.1382G>A	NP_001129586.1:p.Trp461Ter
NM_001353193.1:c.1799G>A	NP_001340122.1:p.Trp600Ter
NM_001353193.2:c.1799G>A	NP_001340122.2:p.Trp600Ter
NM_001353194.1:c.1571G>A	NP_001340123.1:p.Trp524Ter
NM_001353194.2:c.1571G>A	NP_001340123.1:p.Trp524Ter
NM_001353195.1:c.1382G>A	NP_001340124.1:p.Trp461Ter
NM_001353195.2:c.1382G>A	NP_001340124.1:p.Trp461Ter
NM_001353196.1:c.1643G>A	NP_001340125.1:p.Trp548Ter
NM_001353196.2:c.1643G>A	NP_001340125.1:p.Trp548Ter
NM_001353197.1:c.1637G>A	NP_001340126.1:p.Trp546Ter
NM_001353197.2:c.1637G>A	NP_001340126.2:p.Trp546Ter
NM_001353198.1:c.1637G>A	NP_001340127.1:p.Trp546Ter
NM_001353198.2:c.1637G>A	NP_001340127.2:p.Trp546Ter
NM_001353199.1:c.1448G>A	NP_001340128.1:p.Trp483Ter
NM_001353199.2:c.1448G>A	NP_001340128.2:p.Trp483Ter
NM_001353200.1:c.1277G>A	NP_001340129.1:p.Trp426Ter
NM_001353200.2:c.1277G>A	NP_001340129.1:p.Trp426Ter
NM_001374689.1:c.1721G>A	NP_001361618.1:p.Trp574Ter
NM_001374690.1:c.1514G>A	NP_001361619.1:p.Trp505Ter
NM_001374691.1:c.1382G>A	NP_001361620.1:p.Trp461Ter
NM_001374692.1:c.1382G>A	NP_001361621.1:p.Trp461Ter
NM_001374693.1:c.1382G>A	NP_001361622.1:p.Trp461Ter
NM_001374695.1:c.1343G>A	NP_001361624.1:p.Trp448Ter
NM_007171.3:c.1799G>A	NP_009102.3:p.Trp600Ter
NM_007171.4:c.1799G>A	NP_009102.4:p.Trp600Ter
NR_148391.1:n.1783G>A
NR_148391.2:n.1767G>A
NR_148392.1:n.2001G>A
NR_148392.2:n.1985G>A
NR_148393.1:n.1922G>A
NR_148393.2:n.1906G>A
NR_148394.1:n.1676G>A
NR_148394.2:n.1660G>A
NR_148395.1:n.2074G>A
NR_148395.2:n.2058G>A
NR_148396.1:n.1708G>A
NR_148396.2:n.1692G>A
NR_148397.1:n.1833G>A
NR_148397.2:n.1817G>A
NR_148398.1:n.1788G>A
NR_148398.2:n.1772G>A
NR_148399.1:n.2314G>A
NR_148399.2:n.2298G>A
NR_148400.1:n.1913G>A
NR_148400.2:n.1897G>A
ENST00000341012.11:c.1571G>A	ENSP00000343034.7:p.Trp524Ter
ENST00000341012.12:c.1571G>A	ENSP00000343034.7:p.Trp524Ter
ENST00000341012.13:c.1571G>A	ENSP00000343034.7:p.Trp524Ter
ENST00000372220.4:c.596G>A	ENSP00000361294.4:p.Trp199Ter
ENST00000372220.5:c.602G>A	ENSP00000361294.5:p.Trp201Ter
ENST00000372228.7:c.1799G>A	ENSP00000361302.3:p.Trp600Ter
ENST00000372228.9:c.1799G>A	ENSP00000361302.3:p.Trp600Ter
ENST00000402686.7:c.1733G>A	ENSP00000385797.3:p.Trp578Ter
ENST00000404875.6:c.1382G>A	ENSP00000384531.2:p.Trp461Ter
ENST00000404875.7:n.2273G>A
ENST00000423007.5:c.1733G>A	ENSP00000404119.1:p.Trp578Ter
ENST00000423007.6:c.1790G>A	ENSP00000404119.2:p.Trp597Ter
ENST00000467848.1:n.437G>A
ENST00000485278.5:n.2283G>A
ENST00000494883.1:n.276G>A
ENST00000676640.1:c.1733G>A	ENSP00000503281.1:p.Trp578Ter
ENST00000676803.1:c.794G>A	ENSP00000503093.1:p.Trp265Ter
ENST00000676835.1:c.*948G>A	ENSP00000502911.1:n.*948G>A
ENST00000677029.1:c.1277G>A	ENSP00000502936.1:p.Trp426Ter
ENST00000677099.1:c.*1443G>A	ENSP00000504553.1:n.*1443G>A
ENST00000677216.1:c.1382G>A	ENSP00000503772.1:p.Trp461Ter
ENST00000677221.1:n.758G>A
ENST00000677295.1:c.*1110G>A	ENSP00000504346.1:n.*1110G>A
ENST00000677295.2:c.*2077G>A	ENSP00000504346.2:n.*2077G>A
ENST00000677444.1:c.1678G>A
ENST00000677586.1:n.1100G>A
ENST00000677626.1:c.1382G>A	ENSP00000503552.1:p.Trp461Ter
ENST00000677853.1:c.*741G>A	ENSP00000503488.1:n.*741G>A
ENST00000678202.1:n.892G>A
ENST00000678264.1:c.*1110G>A	ENSP00000503157.1:n.*1110G>A
ENST00000678264.2:c.*1916G>A	ENSP00000503157.2:n.*1916G>A
ENST00000678303.1:c.1643G>A	ENSP00000503696.1:p.Trp548Ter
ENST00000678366.1:c.*1982G>A	ENSP00000504353.1:n.*1982G>A
ENST00000678546.1:c.*1678G>A	ENSP00000503062.1:n.*1678G>A
ENST00000678548.1:c.*1805G>A	ENSP00000503934.1:n.*1805G>A
ENST00000678626.1:n.1569G>A
ENST00000678739.1:c.*2054G>A	ENSP00000503806.1:n.*2054G>A
ENST00000678833.1:c.*1485G>A	ENSP00000503893.1:n.*1485G>A
ENST00000679023.1:c.1571G>A	ENSP00000503718.1:p.Trp524Ter
ENST00000679076.1:c.1352G>A
ENST00000679111.1:c.*489G>A	ENSP00000504257.1:n.*489G>A
ENST00000679189.1:c.1382G>A	ENSP00000503356.1:p.Trp461Ter
ENST00000682070.1:n.2198G>A
ENST00000682813.1:n.2137G>A
ENST00000683392.1:n.4480G>A
ENST00000683712.1:n.2138G>A
ENST00000683900.1:n.3633G>A
ENST00000684062.1:n.2399G>A
ENST00000684579.1:n.3579G>A
ENST00000684679.1:n.960G>A
XM_005272156.1:c.1799G>A	XP_005272213.1:p.Trp600Ter
XM_005272158.1:c.1637G>A	XP_005272215.1:p.Trp546Ter
XM_005272159.1:c.1448G>A	XP_005272216.1:p.Trp483Ter
XM_005272162.1:c.602G>A	XP_005272219.1:p.Trp201Ter
XM_005272162.3:c.602G>A	XP_005272219.1:p.Trp201Ter
XM_006716932.1:c.1448G>A	XP_006716995.1:p.Trp483Ter
XM_006716932.2:c.1448G>A	XP_006716995.1:p.Trp483Ter
XM_011518140.1:c.1652G>A	XP_011516442.1:p.Trp551Ter
XM_011518140.2:c.1652G>A	XP_011516442.1:p.Trp551Ter
XM_011518141.1:c.1586G>A	XP_011516443.1:p.Trp529Ter
XM_011518141.2:c.1586G>A	XP_011516443.1:p.Trp529Ter
XM_011518142.1:c.1490G>A	XP_011516444.1:p.Trp497Ter
XM_011518142.2:c.1490G>A	XP_011516444.1:p.Trp497Ter
XM_011518143.1:c.1484G>A	XP_011516445.1:p.Trp495Ter
XM_011518143.2:c.1484G>A	XP_011516445.1:p.Trp495Ter
XM_011518145.1:c.1343G>A	XP_011516447.1:p.Trp448Ter
XM_011518145.2:c.1343G>A	XP_011516447.1:p.Trp448Ter
XM_011518147.1:c.671G>A	XP_011516449.1:p.Trp224Ter
XM_017014205.2:c.602G>A	XP_016869694.1:p.Trp201Ter
XM_024447380.1:c.602G>A	XP_024303148.1:p.Trp201Ter
XM_024447381.1:c.908G>A	XP_024303149.1:p.Trp303Ter
XM_024447382.1:c.602G>A	XP_024303150.1:p.Trp201Ter
XR_001746160.2:n.1903G>A
XR_001746162.2:n.2108G>A
XR_001746164.1:n.1825G>A
XR_001746166.2:n.2120G>A
XR_929703.1:n.1975G>A