Canonical Allele Identifier: CA1881751856

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518490C= , CM000671.2:g.131518490C=	GRCh38
NC_000009.11:g.134393877C= , CM000671.1:g.134393877C=	GRCh37
NC_000009.10:g.133383698C=	NCBI36
NG_008896.1:g.20589C=
NG_008896.2:g.20589C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1156C=	ENSP00000343034.7:p.Leu386=
ENST00000404875.7:n.1858C=
ENST00000423007.6:c.1375C=	ENSP00000404119.2:p.Leu459=
ENST00000677295.2:c.*1662C=	ENSP00000504346.2:n.*1662C=
ENST00000678264.2:c.*1501C=	ENSP00000503157.2:n.*1501C=
ENST00000682070.1:n.1783C=
ENST00000682535.1:n.90C=
ENST00000682539.1:c.256C=
ENST00000682813.1:n.1583C=
ENST00000683110.1:n.46C=
ENST00000683392.1:n.4065C=
ENST00000683712.1:n.1723C=
ENST00000683900.1:n.3218C=
ENST00000684062.1:n.1984C=
ENST00000684579.1:n.3164C=
ENST00000684679.1:n.545C=
ENST00000341012.12:c.1156C=	ENSP00000343034.7:p.Leu386=
ENST00000372220.5:c.187C=	ENSP00000361294.5:p.Leu63=
ENST00000372228.9:c.1384C=	ENSP00000361302.3:p.Leu462=
ENST00000402686.8:c.1318C= MANE Select	ENSP00000385797.4:p.Leu440=
ENST00000676640.1:c.1318C=	ENSP00000503281.1:p.Leu440=
ENST00000676803.1:c.493C=	ENSP00000503093.1:p.Leu165=
ENST00000676835.1:c.*533C=	ENSP00000502911.1:n.*533C=
ENST00000677029.1:c.862C=	ENSP00000502936.1:p.Leu288=
ENST00000677099.1:c.*1028C=	ENSP00000504553.1:n.*1028C=
ENST00000677216.1:c.967C=	ENSP00000503772.1:p.Leu323=
ENST00000677221.1:n.343C=
ENST00000677295.1:c.*695C=	ENSP00000504346.1:n.*695C=
ENST00000677444.1:c.1124C=
ENST00000677586.1:n.799C=
ENST00000677626.1:c.967C=	ENSP00000503552.1:p.Leu323=
ENST00000677677.1:n.1278C=
ENST00000677853.1:c.*326C=	ENSP00000503488.1:n.*326C=
ENST00000677983.1:n.407C=
ENST00000678202.1:n.338C=
ENST00000678264.1:c.*695C=	ENSP00000503157.1:n.*695C=
ENST00000678303.1:c.1228C=	ENSP00000503696.1:p.Leu410=
ENST00000678366.1:c.*1567C=	ENSP00000504353.1:n.*1567C=
ENST00000678546.1:c.*1263C=	ENSP00000503062.1:n.*1263C=
ENST00000678548.1:c.*1390C=	ENSP00000503934.1:n.*1390C=
ENST00000678626.1:n.1015C=
ENST00000678733.1:c.399C=
ENST00000678739.1:c.*1644C=	ENSP00000503806.1:n.*1644C=
ENST00000678795.1:n.405C=
ENST00000678833.1:c.*765C=	ENSP00000503893.1:n.*765C=
ENST00000678942.1:c.498C=	ENSP00000504690.1:n.498C=
ENST00000679023.1:c.1156C=	ENSP00000503718.1:p.Leu386=
ENST00000679076.1:c.937C=
ENST00000679111.1:c.1318C=	ENSP00000504257.1:p.Leu440=
ENST00000679189.1:c.967C=	ENSP00000503356.1:p.Leu323=
ENST00000341012.11:c.1156C=	ENSP00000343034.7:p.Leu386=
ENST00000372220.4:c.181C=	ENSP00000361294.4:p.Leu61=
ENST00000372228.7:c.1384C=	ENSP00000361302.3:p.Leu462=
ENST00000402686.7:c.1318C=	ENSP00000385797.3:p.Leu440=
ENST00000404875.6:c.967C=	ENSP00000384531.2:p.Leu323=
ENST00000423007.5:c.1318C=	ENSP00000404119.1:p.Leu440=
ENST00000485278.5:n.1873C=
NM_001077365.1:c.1318C=	NP_001070833.1:p.Leu440=
NM_001077366.1:c.1156C=	NP_001070834.1:p.Leu386=
NM_001136113.1:c.1318C=	NP_001129585.1:p.Leu440=
NM_001136114.1:c.967C=	NP_001129586.1:p.Leu323=
NM_007171.3:c.1384C=	NP_009102.3:p.Leu462=
XM_005272156.1:c.1384C=	XP_005272213.1:p.Leu462=
XM_005272158.1:c.1222C=	XP_005272215.1:p.Leu408=
XM_005272159.1:c.1033C=	XP_005272216.1:p.Leu345=
XM_005272162.1:c.187C=	XP_005272219.1:p.Leu63=
XM_006716932.1:c.1033C=	XP_006716995.1:p.Leu345=
XM_011518140.1:c.1237C=	XP_011516442.1:p.Leu413=
XM_011518141.1:c.1171C=	XP_011516443.1:p.Leu391=
XM_011518142.1:c.1075C=	XP_011516444.1:p.Leu359=
XM_011518143.1:c.1069C=	XP_011516445.1:p.Leu357=
XM_011518144.1:c.1384C=	XP_011516446.1:p.Leu462=
XM_011518145.1:c.928C=	XP_011516447.1:p.Leu310=
XM_011518146.1:c.1069C=	XP_011516448.1:p.Leu357=
XM_011518147.1:c.256C=	XP_011516449.1:p.Leu86=
XR_929703.1:n.1560C=
NM_001353193.1:c.1384C=	NP_001340122.1:p.Leu462=
NM_001353194.1:c.1156C=	NP_001340123.1:p.Leu386=
NM_001353195.1:c.967C=	NP_001340124.1:p.Leu323=
NM_001353196.1:c.1228C=	NP_001340125.1:p.Leu410=
NM_001353197.1:c.1222C=	NP_001340126.1:p.Leu408=
NM_001353198.1:c.1222C=	NP_001340127.1:p.Leu408=
NM_001353199.1:c.1033C=	NP_001340128.1:p.Leu345=
NM_001353200.1:c.862C=	NP_001340129.1:p.Leu288=
NR_148391.1:n.1368C=
NR_148392.1:n.1586C=
NR_148393.1:n.1368C=
NR_148394.1:n.1261C=
NR_148395.1:n.1520C=
NR_148396.1:n.1154C=
NR_148397.1:n.1418C=
NR_148398.1:n.1373C=
NR_148399.1:n.1760C=
NR_148400.1:n.1359C=
XM_005272162.3:c.187C=	XP_005272219.1:p.Leu63=
XM_006716932.2:c.1033C=	XP_006716995.1:p.Leu345=
XM_011518140.2:c.1237C=	XP_011516442.1:p.Leu413=
XM_011518141.2:c.1171C=	XP_011516443.1:p.Leu391=
XM_011518142.2:c.1075C=	XP_011516444.1:p.Leu359=
XM_011518143.2:c.1069C=	XP_011516445.1:p.Leu357=
XM_011518145.2:c.928C=	XP_011516447.1:p.Leu310=
XM_017014205.2:c.187C=	XP_016869694.1:p.Leu63=
XM_024447380.1:c.187C=	XP_024303148.1:p.Leu63=
XM_024447381.1:c.493C=	XP_024303149.1:p.Leu165=
XM_024447382.1:c.187C=	XP_024303150.1:p.Leu63=
XR_001746160.2:n.1488C=
XR_001746162.2:n.1554C=
XR_001746164.1:n.1271C=
XR_001746166.2:n.1705C=
NM_001077365.2:c.1318C= MANE Select	NP_001070833.1:p.Leu440=
NM_001077366.2:c.1156C=	NP_001070834.1:p.Leu386=
NM_001136113.2:c.1318C=	NP_001129585.1:p.Leu440=
NM_001136114.2:c.967C=	NP_001129586.1:p.Leu323=
NM_001353193.2:c.1384C=	NP_001340122.2:p.Leu462=
NM_001353194.2:c.1156C=	NP_001340123.1:p.Leu386=
NM_001353195.2:c.967C=	NP_001340124.1:p.Leu323=
NM_001353196.2:c.1228C=	NP_001340125.1:p.Leu410=
NM_001353197.2:c.1222C=	NP_001340126.2:p.Leu408=
NM_001353198.2:c.1222C=	NP_001340127.2:p.Leu408=
NM_001353199.2:c.1033C=	NP_001340128.2:p.Leu345=
NM_001353200.2:c.862C=	NP_001340129.1:p.Leu288=
NM_001374689.1:c.1306C=	NP_001361618.1:p.Leu436=
NM_001374690.1:c.1318C=	NP_001361619.1:p.Leu440=
NM_001374691.1:c.967C=	NP_001361620.1:p.Leu323=
NM_001374692.1:c.967C=	NP_001361621.1:p.Leu323=
NM_001374693.1:c.967C=	NP_001361622.1:p.Leu323=
NM_001374695.1:c.928C=	NP_001361624.1:p.Leu310=
NM_007171.4:c.1384C=	NP_009102.4:p.Leu462=
NR_148391.2:n.1352C=
NR_148392.2:n.1570C=
NR_148393.2:n.1352C=
NR_148394.2:n.1245C=
NR_148395.2:n.1504C=
NR_148396.2:n.1138C=
NR_148397.2:n.1402C=
NR_148398.2:n.1357C=
NR_148399.2:n.1744C=
NR_148400.2:n.1343C=