Canonical Allele Identifier: CA375312137

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518950-C-G
• MyVariant Identifiers: chr9:g.134394337C>G (hg19) ; chr9:g.131518950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518950C>G , CM000671.2:g.131518950C>G	GRCh38
NC_000009.11:g.134394337C>G , CM000671.1:g.134394337C>G	GRCh37
NC_000009.10:g.133384158C>G	NCBI36
NG_008896.1:g.21049C>G
NG_008896.2:g.21049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1317C>G	ENSP00000343034.7:p.Tyr439Ter
ENST00000404875.7:n.2019C>G
ENST00000423007.6:c.1536C>G	ENSP00000404119.2:p.Tyr512Ter
ENST00000677295.2:c.*1823C>G	ENSP00000504346.2:n.*1823C>G
ENST00000678264.2:c.*1662C>G	ENSP00000503157.2:n.*1662C>G
ENST00000682070.1:n.1944C>G
ENST00000682539.1:c.417C>G
ENST00000682813.1:n.1883C>G
ENST00000683392.1:n.4226C>G
ENST00000683712.1:n.1884C>G
ENST00000683900.1:n.3379C>G
ENST00000684062.1:n.2145C>G
ENST00000684579.1:n.3325C>G
ENST00000684679.1:n.706C>G
ENST00000341012.12:c.1317C>G	ENSP00000343034.7:p.Tyr439Ter
ENST00000372220.5:c.348C>G	ENSP00000361294.5:p.Tyr116Ter
ENST00000372228.9:c.1545C>G	ENSP00000361302.3:p.Tyr515Ter
ENST00000402686.8:c.1479C>G MANE Select	ENSP00000385797.4:p.Tyr493Ter
ENST00000676640.1:c.1479C>G	ENSP00000503281.1:p.Tyr493Ter
ENST00000676803.1:c.654C>G	ENSP00000503093.1:p.Tyr218Ter
ENST00000676835.1:c.*694C>G	ENSP00000502911.1:n.*694C>G
ENST00000677029.1:c.1023C>G	ENSP00000502936.1:p.Tyr341Ter
ENST00000677099.1:c.*1189C>G	ENSP00000504553.1:n.*1189C>G
ENST00000677216.1:c.1128C>G	ENSP00000503772.1:p.Tyr376Ter
ENST00000677221.1:n.504C>G
ENST00000677295.1:c.*856C>G	ENSP00000504346.1:n.*856C>G
ENST00000677444.1:c.1424C>G
ENST00000677586.1:n.960C>G
ENST00000677626.1:c.1128C>G	ENSP00000503552.1:p.Tyr376Ter
ENST00000677677.1:n.1439C>G
ENST00000677853.1:c.*487C>G	ENSP00000503488.1:n.*487C>G
ENST00000678202.1:n.638C>G
ENST00000678264.1:c.*856C>G	ENSP00000503157.1:n.*856C>G
ENST00000678303.1:c.1389C>G	ENSP00000503696.1:p.Tyr463Ter
ENST00000678366.1:c.*1728C>G	ENSP00000504353.1:n.*1728C>G
ENST00000678546.1:c.*1424C>G	ENSP00000503062.1:n.*1424C>G
ENST00000678548.1:c.*1551C>G	ENSP00000503934.1:n.*1551C>G
ENST00000678626.1:n.1315C>G
ENST00000678733.1:c.560C>G
ENST00000678739.1:c.*1805C>G	ENSP00000503806.1:n.*1805C>G
ENST00000678833.1:c.*926C>G	ENSP00000503893.1:n.*926C>G
ENST00000679023.1:c.1317C>G	ENSP00000503718.1:p.Tyr439Ter
ENST00000679076.1:c.1098C>G
ENST00000679111.1:c.*235C>G	ENSP00000504257.1:n.*235C>G
ENST00000679189.1:c.1128C>G	ENSP00000503356.1:p.Tyr376Ter
ENST00000341012.11:c.1317C>G	ENSP00000343034.7:p.Tyr439Ter
ENST00000372220.4:c.342C>G	ENSP00000361294.4:p.Tyr114Ter
ENST00000372228.7:c.1545C>G	ENSP00000361302.3:p.Tyr515Ter
ENST00000402686.7:c.1479C>G	ENSP00000385797.3:p.Tyr493Ter
ENST00000404875.6:c.1128C>G	ENSP00000384531.2:p.Tyr376Ter
ENST00000423007.5:c.1479C>G	ENSP00000404119.1:p.Tyr493Ter
ENST00000467848.1:n.183C>G
ENST00000485278.5:n.2034C>G
NM_001077365.1:c.1479C>G	NP_001070833.1:p.Tyr493Ter
NM_001077366.1:c.1317C>G	NP_001070834.1:p.Tyr439Ter
NM_001136113.1:c.1479C>G	NP_001129585.1:p.Tyr493Ter
NM_001136114.1:c.1128C>G	NP_001129586.1:p.Tyr376Ter
NM_007171.3:c.1545C>G	NP_009102.3:p.Tyr515Ter
XM_005272156.1:c.1545C>G	XP_005272213.1:p.Tyr515Ter
XM_005272158.1:c.1383C>G	XP_005272215.1:p.Tyr461Ter
XM_005272159.1:c.1194C>G	XP_005272216.1:p.Tyr398Ter
XM_005272162.1:c.348C>G	XP_005272219.1:p.Tyr116Ter
XM_006716932.1:c.1194C>G	XP_006716995.1:p.Tyr398Ter
XM_011518140.1:c.1398C>G	XP_011516442.1:p.Tyr466Ter
XM_011518141.1:c.1332C>G	XP_011516443.1:p.Tyr444Ter
XM_011518142.1:c.1236C>G	XP_011516444.1:p.Tyr412Ter
XM_011518143.1:c.1230C>G	XP_011516445.1:p.Tyr410Ter
XM_011518145.1:c.1089C>G	XP_011516447.1:p.Tyr363Ter
XM_011518147.1:c.417C>G	XP_011516449.1:p.Tyr139Ter
XR_929703.1:n.1721C>G
NM_001353193.1:c.1545C>G	NP_001340122.1:p.Tyr515Ter
NM_001353194.1:c.1317C>G	NP_001340123.1:p.Tyr439Ter
NM_001353195.1:c.1128C>G	NP_001340124.1:p.Tyr376Ter
NM_001353196.1:c.1389C>G	NP_001340125.1:p.Tyr463Ter
NM_001353197.1:c.1383C>G	NP_001340126.1:p.Tyr461Ter
NM_001353198.1:c.1383C>G	NP_001340127.1:p.Tyr461Ter
NM_001353199.1:c.1194C>G	NP_001340128.1:p.Tyr398Ter
NM_001353200.1:c.1023C>G	NP_001340129.1:p.Tyr341Ter
NR_148391.1:n.1529C>G
NR_148392.1:n.1747C>G
NR_148393.1:n.1668C>G
NR_148394.1:n.1422C>G
NR_148395.1:n.1820C>G
NR_148396.1:n.1454C>G
NR_148397.1:n.1579C>G
NR_148398.1:n.1534C>G
NR_148399.1:n.2060C>G
NR_148400.1:n.1659C>G
XM_005272162.3:c.348C>G	XP_005272219.1:p.Tyr116Ter
XM_006716932.2:c.1194C>G	XP_006716995.1:p.Tyr398Ter
XM_011518140.2:c.1398C>G	XP_011516442.1:p.Tyr466Ter
XM_011518141.2:c.1332C>G	XP_011516443.1:p.Tyr444Ter
XM_011518142.2:c.1236C>G	XP_011516444.1:p.Tyr412Ter
XM_011518143.2:c.1230C>G	XP_011516445.1:p.Tyr410Ter
XM_011518145.2:c.1089C>G	XP_011516447.1:p.Tyr363Ter
XM_017014205.2:c.348C>G	XP_016869694.1:p.Tyr116Ter
XM_024447380.1:c.348C>G	XP_024303148.1:p.Tyr116Ter
XM_024447381.1:c.654C>G	XP_024303149.1:p.Tyr218Ter
XM_024447382.1:c.348C>G	XP_024303150.1:p.Tyr116Ter
XR_001746160.2:n.1649C>G
XR_001746162.2:n.1854C>G
XR_001746164.1:n.1571C>G
XR_001746166.2:n.1866C>G
NM_001077365.2:c.1479C>G MANE Select	NP_001070833.1:p.Tyr493Ter
NM_001077366.2:c.1317C>G	NP_001070834.1:p.Tyr439Ter
NM_001136113.2:c.1479C>G	NP_001129585.1:p.Tyr493Ter
NM_001136114.2:c.1128C>G	NP_001129586.1:p.Tyr376Ter
NM_001353193.2:c.1545C>G	NP_001340122.2:p.Tyr515Ter
NM_001353194.2:c.1317C>G	NP_001340123.1:p.Tyr439Ter
NM_001353195.2:c.1128C>G	NP_001340124.1:p.Tyr376Ter
NM_001353196.2:c.1389C>G	NP_001340125.1:p.Tyr463Ter
NM_001353197.2:c.1383C>G	NP_001340126.2:p.Tyr461Ter
NM_001353198.2:c.1383C>G	NP_001340127.2:p.Tyr461Ter
NM_001353199.2:c.1194C>G	NP_001340128.2:p.Tyr398Ter
NM_001353200.2:c.1023C>G	NP_001340129.1:p.Tyr341Ter
NM_001374689.1:c.1467C>G	NP_001361618.1:p.Tyr489Ter
NM_001374690.1:c.1365+413C>G	NP_001361619.1:n.1365+413C>G
NM_001374691.1:c.1128C>G	NP_001361620.1:p.Tyr376Ter
NM_001374692.1:c.1128C>G	NP_001361621.1:p.Tyr376Ter
NM_001374693.1:c.1128C>G	NP_001361622.1:p.Tyr376Ter
NM_001374695.1:c.1089C>G	NP_001361624.1:p.Tyr363Ter
NM_007171.4:c.1545C>G	NP_009102.4:p.Tyr515Ter
NR_148391.2:n.1513C>G
NR_148392.2:n.1731C>G
NR_148393.2:n.1652C>G
NR_148394.2:n.1406C>G
NR_148395.2:n.1804C>G
NR_148396.2:n.1438C>G
NR_148397.2:n.1563C>G
NR_148398.2:n.1518C>G
NR_148399.2:n.2044C>G
NR_148400.2:n.1643C>G