Canonical Allele Identifier: CA375311761

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394239C>A (hg19) ; chr9:g.131518852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518852C>A , CM000671.2:g.131518852C>A	GRCh38
NC_000009.11:g.134394239C>A , CM000671.1:g.134394239C>A	GRCh37
NC_000009.10:g.133384060C>A	NCBI36
NG_008896.1:g.20951C>A
NG_008896.2:g.20951C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1219C>A	ENSP00000343034.7:p.Leu407Ile
ENST00000404875.7:n.1921C>A
ENST00000423007.6:c.1438C>A	ENSP00000404119.2:p.Leu480Ile
ENST00000677295.2:c.*1725C>A	ENSP00000504346.2:n.*1725C>A
ENST00000678264.2:c.*1564C>A	ENSP00000503157.2:n.*1564C>A
ENST00000682070.1:n.1846C>A
ENST00000682539.1:c.319C>A
ENST00000682813.1:n.1785C>A
ENST00000683392.1:n.4128C>A
ENST00000683712.1:n.1786C>A
ENST00000683900.1:n.3281C>A
ENST00000684062.1:n.2047C>A
ENST00000684579.1:n.3227C>A
ENST00000684679.1:n.608C>A
ENST00000341012.12:c.1219C>A	ENSP00000343034.7:p.Leu407Ile
ENST00000372220.5:c.250C>A	ENSP00000361294.5:p.Leu84Ile
ENST00000372228.9:c.1447C>A	ENSP00000361302.3:p.Leu483Ile
ENST00000402686.8:c.1381C>A MANE Select	ENSP00000385797.4:p.Leu461Ile
ENST00000676640.1:c.1381C>A	ENSP00000503281.1:p.Leu461Ile
ENST00000676803.1:c.556C>A	ENSP00000503093.1:p.Leu186Ile
ENST00000676835.1:c.*596C>A	ENSP00000502911.1:n.*596C>A
ENST00000677029.1:c.925C>A	ENSP00000502936.1:p.Leu309Ile
ENST00000677099.1:c.*1091C>A	ENSP00000504553.1:n.*1091C>A
ENST00000677216.1:c.1030C>A	ENSP00000503772.1:p.Leu344Ile
ENST00000677221.1:n.406C>A
ENST00000677295.1:c.*758C>A	ENSP00000504346.1:n.*758C>A
ENST00000677444.1:c.1326C>A
ENST00000677586.1:n.862C>A
ENST00000677626.1:c.1030C>A	ENSP00000503552.1:p.Leu344Ile
ENST00000677677.1:n.1341C>A
ENST00000677853.1:c.*389C>A	ENSP00000503488.1:n.*389C>A
ENST00000678202.1:n.540C>A
ENST00000678264.1:c.*758C>A	ENSP00000503157.1:n.*758C>A
ENST00000678303.1:c.1291C>A	ENSP00000503696.1:p.Leu431Ile
ENST00000678366.1:c.*1630C>A	ENSP00000504353.1:n.*1630C>A
ENST00000678546.1:c.*1326C>A	ENSP00000503062.1:n.*1326C>A
ENST00000678548.1:c.*1453C>A	ENSP00000503934.1:n.*1453C>A
ENST00000678626.1:n.1217C>A
ENST00000678733.1:c.462C>A
ENST00000678739.1:c.*1707C>A	ENSP00000503806.1:n.*1707C>A
ENST00000678833.1:c.*828C>A	ENSP00000503893.1:n.*828C>A
ENST00000679023.1:c.1219C>A	ENSP00000503718.1:p.Leu407Ile
ENST00000679076.1:c.1000C>A
ENST00000679111.1:c.*137C>A	ENSP00000504257.1:n.*137C>A
ENST00000679189.1:c.1030C>A	ENSP00000503356.1:p.Leu344Ile
ENST00000341012.11:c.1219C>A	ENSP00000343034.7:p.Leu407Ile
ENST00000372220.4:c.244C>A	ENSP00000361294.4:p.Leu82Ile
ENST00000372228.7:c.1447C>A	ENSP00000361302.3:p.Leu483Ile
ENST00000402686.7:c.1381C>A	ENSP00000385797.3:p.Leu461Ile
ENST00000404875.6:c.1030C>A	ENSP00000384531.2:p.Leu344Ile
ENST00000423007.5:c.1381C>A	ENSP00000404119.1:p.Leu461Ile
ENST00000467848.1:n.85C>A
ENST00000485278.5:n.1936C>A
NM_001077365.1:c.1381C>A	NP_001070833.1:p.Leu461Ile
NM_001077366.1:c.1219C>A	NP_001070834.1:p.Leu407Ile
NM_001136113.1:c.1381C>A	NP_001129585.1:p.Leu461Ile
NM_001136114.1:c.1030C>A	NP_001129586.1:p.Leu344Ile
NM_007171.3:c.1447C>A	NP_009102.3:p.Leu483Ile
XM_005272156.1:c.1447C>A	XP_005272213.1:p.Leu483Ile
XM_005272158.1:c.1285C>A	XP_005272215.1:p.Leu429Ile
XM_005272159.1:c.1096C>A	XP_005272216.1:p.Leu366Ile
XM_005272162.1:c.250C>A	XP_005272219.1:p.Leu84Ile
XM_006716932.1:c.1096C>A	XP_006716995.1:p.Leu366Ile
XM_011518140.1:c.1300C>A	XP_011516442.1:p.Leu434Ile
XM_011518141.1:c.1234C>A	XP_011516443.1:p.Leu412Ile
XM_011518142.1:c.1138C>A	XP_011516444.1:p.Leu380Ile
XM_011518143.1:c.1132C>A	XP_011516445.1:p.Leu378Ile
XM_011518144.1:c.*137C>A	XP_011516446.1:n.*137C>A
XM_011518145.1:c.991C>A	XP_011516447.1:p.Leu331Ile
XM_011518146.1:c.*137C>A	XP_011516448.1:n.*137C>A
XM_011518147.1:c.319C>A	XP_011516449.1:p.Leu107Ile
XR_929703.1:n.1623C>A
NM_001353193.1:c.1447C>A	NP_001340122.1:p.Leu483Ile
NM_001353194.1:c.1219C>A	NP_001340123.1:p.Leu407Ile
NM_001353195.1:c.1030C>A	NP_001340124.1:p.Leu344Ile
NM_001353196.1:c.1291C>A	NP_001340125.1:p.Leu431Ile
NM_001353197.1:c.1285C>A	NP_001340126.1:p.Leu429Ile
NM_001353198.1:c.1285C>A	NP_001340127.1:p.Leu429Ile
NM_001353199.1:c.1096C>A	NP_001340128.1:p.Leu366Ile
NM_001353200.1:c.925C>A	NP_001340129.1:p.Leu309Ile
NR_148391.1:n.1431C>A
NR_148392.1:n.1649C>A
NR_148393.1:n.1570C>A
NR_148394.1:n.1324C>A
NR_148395.1:n.1722C>A
NR_148396.1:n.1356C>A
NR_148397.1:n.1481C>A
NR_148398.1:n.1436C>A
NR_148399.1:n.1962C>A
NR_148400.1:n.1561C>A
XM_005272162.3:c.250C>A	XP_005272219.1:p.Leu84Ile
XM_006716932.2:c.1096C>A	XP_006716995.1:p.Leu366Ile
XM_011518140.2:c.1300C>A	XP_011516442.1:p.Leu434Ile
XM_011518141.2:c.1234C>A	XP_011516443.1:p.Leu412Ile
XM_011518142.2:c.1138C>A	XP_011516444.1:p.Leu380Ile
XM_011518143.2:c.1132C>A	XP_011516445.1:p.Leu378Ile
XM_011518145.2:c.991C>A	XP_011516447.1:p.Leu331Ile
XM_017014205.2:c.250C>A	XP_016869694.1:p.Leu84Ile
XM_024447380.1:c.250C>A	XP_024303148.1:p.Leu84Ile
XM_024447381.1:c.556C>A	XP_024303149.1:p.Leu186Ile
XM_024447382.1:c.250C>A	XP_024303150.1:p.Leu84Ile
XR_001746160.2:n.1551C>A
XR_001746162.2:n.1756C>A
XR_001746164.1:n.1473C>A
XR_001746166.2:n.1768C>A
NM_001077365.2:c.1381C>A MANE Select	NP_001070833.1:p.Leu461Ile
NM_001077366.2:c.1219C>A	NP_001070834.1:p.Leu407Ile
NM_001136113.2:c.1381C>A	NP_001129585.1:p.Leu461Ile
NM_001136114.2:c.1030C>A	NP_001129586.1:p.Leu344Ile
NM_001353193.2:c.1447C>A	NP_001340122.2:p.Leu483Ile
NM_001353194.2:c.1219C>A	NP_001340123.1:p.Leu407Ile
NM_001353195.2:c.1030C>A	NP_001340124.1:p.Leu344Ile
NM_001353196.2:c.1291C>A	NP_001340125.1:p.Leu431Ile
NM_001353197.2:c.1285C>A	NP_001340126.2:p.Leu429Ile
NM_001353198.2:c.1285C>A	NP_001340127.2:p.Leu429Ile
NM_001353199.2:c.1096C>A	NP_001340128.2:p.Leu366Ile
NM_001353200.2:c.925C>A	NP_001340129.1:p.Leu309Ile
NM_001374689.1:c.1369C>A	NP_001361618.1:p.Leu457Ile
NM_001374690.1:c.1365+315C>A	NP_001361619.1:n.1365+315C>A
NM_001374691.1:c.1030C>A	NP_001361620.1:p.Leu344Ile
NM_001374692.1:c.1030C>A	NP_001361621.1:p.Leu344Ile
NM_001374693.1:c.1030C>A	NP_001361622.1:p.Leu344Ile
NM_001374695.1:c.991C>A	NP_001361624.1:p.Leu331Ile
NM_007171.4:c.1447C>A	NP_009102.4:p.Leu483Ile
NR_148391.2:n.1415C>A
NR_148392.2:n.1633C>A
NR_148393.2:n.1554C>A
NR_148394.2:n.1308C>A
NR_148395.2:n.1706C>A
NR_148396.2:n.1340C>A
NR_148397.2:n.1465C>A
NR_148398.2:n.1420C>A
NR_148399.2:n.1946C>A
NR_148400.2:n.1545C>A