Canonical Allele Identifier: CA1881752490

Gene: POMT1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1219C=	ENSP00000343034.7:p.Leu407=
ENST00000404875.7:n.1921C=
ENST00000423007.6:c.1438C=	ENSP00000404119.2:p.Leu480=
ENST00000677295.2:c.*1725C=	ENSP00000504346.2:n.*1725C=
ENST00000678264.2:c.*1564C=	ENSP00000503157.2:n.*1564C=
ENST00000682070.1:n.1846C=
ENST00000682539.1:c.319C=
ENST00000682813.1:n.1785C=
ENST00000683392.1:n.4128C=
ENST00000683712.1:n.1786C=
ENST00000683900.1:n.3281C=
ENST00000684062.1:n.2047C=
ENST00000684579.1:n.3227C=
ENST00000684679.1:n.608C=
ENST00000341012.12:c.1219C=	ENSP00000343034.7:p.Leu407=
ENST00000372220.5:c.250C=	ENSP00000361294.5:p.Leu84=
ENST00000372228.9:c.1447C=	ENSP00000361302.3:p.Leu483=
ENST00000402686.8:c.1381C= MANE Select	ENSP00000385797.4:p.Leu461=
ENST00000676640.1:c.1381C=	ENSP00000503281.1:p.Leu461=
ENST00000676803.1:c.556C=	ENSP00000503093.1:p.Leu186=
ENST00000676835.1:c.*596C=	ENSP00000502911.1:n.*596C=
ENST00000677029.1:c.925C=	ENSP00000502936.1:p.Leu309=
ENST00000677099.1:c.*1091C=	ENSP00000504553.1:n.*1091C=
ENST00000677216.1:c.1030C=	ENSP00000503772.1:p.Leu344=
ENST00000677221.1:n.406C=
ENST00000677295.1:c.*758C=	ENSP00000504346.1:n.*758C=
ENST00000677444.1:c.1326C=
ENST00000677586.1:n.862C=
ENST00000677626.1:c.1030C=	ENSP00000503552.1:p.Leu344=
ENST00000677677.1:n.1341C=
ENST00000677853.1:c.*389C=	ENSP00000503488.1:n.*389C=
ENST00000678202.1:n.540C=
ENST00000678264.1:c.*758C=	ENSP00000503157.1:n.*758C=
ENST00000678303.1:c.1291C=	ENSP00000503696.1:p.Leu431=
ENST00000678366.1:c.*1630C=	ENSP00000504353.1:n.*1630C=
ENST00000678546.1:c.*1326C=	ENSP00000503062.1:n.*1326C=
ENST00000678548.1:c.*1453C=	ENSP00000503934.1:n.*1453C=
ENST00000678626.1:n.1217C=
ENST00000678733.1:c.462C=
ENST00000678739.1:c.*1707C=	ENSP00000503806.1:n.*1707C=
ENST00000678833.1:c.*828C=	ENSP00000503893.1:n.*828C=
ENST00000679023.1:c.1219C=	ENSP00000503718.1:p.Leu407=
ENST00000679076.1:c.1000C=
ENST00000679111.1:c.*137C=	ENSP00000504257.1:n.*137C=
ENST00000679189.1:c.1030C=	ENSP00000503356.1:p.Leu344=
ENST00000341012.11:c.1219C=	ENSP00000343034.7:p.Leu407=
ENST00000372220.4:c.244C=	ENSP00000361294.4:p.Leu82=
ENST00000372228.7:c.1447C=	ENSP00000361302.3:p.Leu483=
ENST00000402686.7:c.1381C=	ENSP00000385797.3:p.Leu461=
ENST00000404875.6:c.1030C=	ENSP00000384531.2:p.Leu344=
ENST00000423007.5:c.1381C=	ENSP00000404119.1:p.Leu461=
ENST00000467848.1:n.85C=
ENST00000485278.5:n.1936C=
NM_001077365.1:c.1381C=	NP_001070833.1:p.Leu461=
NM_001077366.1:c.1219C=	NP_001070834.1:p.Leu407=
NM_001136113.1:c.1381C=	NP_001129585.1:p.Leu461=
NM_001136114.1:c.1030C=	NP_001129586.1:p.Leu344=
NM_007171.3:c.1447C=	NP_009102.3:p.Leu483=
XM_005272156.1:c.1447C=	XP_005272213.1:p.Leu483=
XM_005272158.1:c.1285C=	XP_005272215.1:p.Leu429=
XM_005272159.1:c.1096C=	XP_005272216.1:p.Leu366=
XM_005272162.1:c.250C=	XP_005272219.1:p.Leu84=
XM_006716932.1:c.1096C=	XP_006716995.1:p.Leu366=
XM_011518140.1:c.1300C=	XP_011516442.1:p.Leu434=
XM_011518141.1:c.1234C=	XP_011516443.1:p.Leu412=
XM_011518142.1:c.1138C=	XP_011516444.1:p.Leu380=
XM_011518143.1:c.1132C=	XP_011516445.1:p.Leu378=
XM_011518144.1:c.*137C=	XP_011516446.1:n.*137C=
XM_011518145.1:c.991C=	XP_011516447.1:p.Leu331=
XM_011518146.1:c.*137C=	XP_011516448.1:n.*137C=
XM_011518147.1:c.319C=	XP_011516449.1:p.Leu107=
XR_929703.1:n.1623C=
NM_001353193.1:c.1447C=	NP_001340122.1:p.Leu483=
NM_001353194.1:c.1219C=	NP_001340123.1:p.Leu407=
NM_001353195.1:c.1030C=	NP_001340124.1:p.Leu344=
NM_001353196.1:c.1291C=	NP_001340125.1:p.Leu431=
NM_001353197.1:c.1285C=	NP_001340126.1:p.Leu429=
NM_001353198.1:c.1285C=	NP_001340127.1:p.Leu429=
NM_001353199.1:c.1096C=	NP_001340128.1:p.Leu366=
NM_001353200.1:c.925C=	NP_001340129.1:p.Leu309=
NR_148391.1:n.1431C=
NR_148392.1:n.1649C=
NR_148393.1:n.1570C=
NR_148394.1:n.1324C=
NR_148395.1:n.1722C=
NR_148396.1:n.1356C=
NR_148397.1:n.1481C=
NR_148398.1:n.1436C=
NR_148399.1:n.1962C=
NR_148400.1:n.1561C=
XM_005272162.3:c.250C=	XP_005272219.1:p.Leu84=
XM_006716932.2:c.1096C=	XP_006716995.1:p.Leu366=
XM_011518140.2:c.1300C=	XP_011516442.1:p.Leu434=
XM_011518141.2:c.1234C=	XP_011516443.1:p.Leu412=
XM_011518142.2:c.1138C=	XP_011516444.1:p.Leu380=
XM_011518143.2:c.1132C=	XP_011516445.1:p.Leu378=
XM_011518145.2:c.991C=	XP_011516447.1:p.Leu331=
XM_017014205.2:c.250C=	XP_016869694.1:p.Leu84=
XM_024447380.1:c.250C=	XP_024303148.1:p.Leu84=
XM_024447381.1:c.556C=	XP_024303149.1:p.Leu186=
XM_024447382.1:c.250C=	XP_024303150.1:p.Leu84=
XR_001746160.2:n.1551C=
XR_001746162.2:n.1756C=
XR_001746164.1:n.1473C=
XR_001746166.2:n.1768C=
NM_001077365.2:c.1381C= MANE Select	NP_001070833.1:p.Leu461=
NM_001077366.2:c.1219C=	NP_001070834.1:p.Leu407=
NM_001136113.2:c.1381C=	NP_001129585.1:p.Leu461=
NM_001136114.2:c.1030C=	NP_001129586.1:p.Leu344=
NM_001353193.2:c.1447C=	NP_001340122.2:p.Leu483=
NM_001353194.2:c.1219C=	NP_001340123.1:p.Leu407=
NM_001353195.2:c.1030C=	NP_001340124.1:p.Leu344=
NM_001353196.2:c.1291C=	NP_001340125.1:p.Leu431=
NM_001353197.2:c.1285C=	NP_001340126.2:p.Leu429=
NM_001353198.2:c.1285C=	NP_001340127.2:p.Leu429=
NM_001353199.2:c.1096C=	NP_001340128.2:p.Leu366=
NM_001353200.2:c.925C=	NP_001340129.1:p.Leu309=
NM_001374689.1:c.1369C=	NP_001361618.1:p.Leu457=
NM_001374690.1:c.1365+315C=	NP_001361619.1:n.1365+315C=
NM_001374691.1:c.1030C=	NP_001361620.1:p.Leu344=
NM_001374692.1:c.1030C=	NP_001361621.1:p.Leu344=
NM_001374693.1:c.1030C=	NP_001361622.1:p.Leu344=
NM_001374695.1:c.991C=	NP_001361624.1:p.Leu331=
NM_007171.4:c.1447C=	NP_009102.4:p.Leu483=
NR_148391.2:n.1415C=
NR_148392.2:n.1633C=
NR_148393.2:n.1554C=
NR_148394.2:n.1308C=
NR_148395.2:n.1706C=
NR_148396.2:n.1340C=
NR_148397.2:n.1465C=
NR_148398.2:n.1420C=
NR_148399.2:n.1946C=
NR_148400.2:n.1545C=