Canonical Allele Identifier: CA1881752619

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518891G= , CM000671.2:g.131518891G=	GRCh38
NC_000009.11:g.134394278G= , CM000671.1:g.134394278G=	GRCh37
NC_000009.10:g.133384099G=	NCBI36
NG_008896.1:g.20990G=
NG_008896.2:g.20990G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1258G=	ENSP00000343034.7:p.Glu420=
ENST00000404875.7:n.1960G=
ENST00000423007.6:c.1477G=	ENSP00000404119.2:p.Glu493=
ENST00000677295.2:c.*1764G=	ENSP00000504346.2:n.*1764G=
ENST00000678264.2:c.*1603G=	ENSP00000503157.2:n.*1603G=
ENST00000682070.1:n.1885G=
ENST00000682539.1:c.358G=
ENST00000682813.1:n.1824G=
ENST00000683392.1:n.4167G=
ENST00000683712.1:n.1825G=
ENST00000683900.1:n.3320G=
ENST00000684062.1:n.2086G=
ENST00000684579.1:n.3266G=
ENST00000684679.1:n.647G=
ENST00000341012.12:c.1258G=	ENSP00000343034.7:p.Glu420=
ENST00000372220.5:c.289G=	ENSP00000361294.5:p.Glu97=
ENST00000372228.9:c.1486G=	ENSP00000361302.3:p.Glu496=
ENST00000402686.8:c.1420G= MANE Select	ENSP00000385797.4:p.Glu474=
ENST00000676640.1:c.1420G=	ENSP00000503281.1:p.Glu474=
ENST00000676803.1:c.595G=	ENSP00000503093.1:p.Glu199=
ENST00000676835.1:c.*635G=	ENSP00000502911.1:n.*635G=
ENST00000677029.1:c.964G=	ENSP00000502936.1:p.Glu322=
ENST00000677099.1:c.*1130G=	ENSP00000504553.1:n.*1130G=
ENST00000677216.1:c.1069G=	ENSP00000503772.1:p.Glu357=
ENST00000677221.1:n.445G=
ENST00000677295.1:c.*797G=	ENSP00000504346.1:n.*797G=
ENST00000677444.1:c.1365G=
ENST00000677586.1:n.901G=
ENST00000677626.1:c.1069G=	ENSP00000503552.1:p.Glu357=
ENST00000677677.1:n.1380G=
ENST00000677853.1:c.*428G=	ENSP00000503488.1:n.*428G=
ENST00000678202.1:n.579G=
ENST00000678264.1:c.*797G=	ENSP00000503157.1:n.*797G=
ENST00000678303.1:c.1330G=	ENSP00000503696.1:p.Glu444=
ENST00000678366.1:c.*1669G=	ENSP00000504353.1:n.*1669G=
ENST00000678546.1:c.*1365G=	ENSP00000503062.1:n.*1365G=
ENST00000678548.1:c.*1492G=	ENSP00000503934.1:n.*1492G=
ENST00000678626.1:n.1256G=
ENST00000678733.1:c.501G=
ENST00000678739.1:c.*1746G=	ENSP00000503806.1:n.*1746G=
ENST00000678833.1:c.*867G=	ENSP00000503893.1:n.*867G=
ENST00000679023.1:c.1258G=	ENSP00000503718.1:p.Glu420=
ENST00000679076.1:c.1039G=
ENST00000679111.1:c.*176G=	ENSP00000504257.1:n.*176G=
ENST00000679189.1:c.1069G=	ENSP00000503356.1:p.Glu357=
ENST00000341012.11:c.1258G=	ENSP00000343034.7:p.Glu420=
ENST00000372220.4:c.283G=	ENSP00000361294.4:p.Glu95=
ENST00000372228.7:c.1486G=	ENSP00000361302.3:p.Glu496=
ENST00000402686.7:c.1420G=	ENSP00000385797.3:p.Glu474=
ENST00000404875.6:c.1069G=	ENSP00000384531.2:p.Glu357=
ENST00000423007.5:c.1420G=	ENSP00000404119.1:p.Glu474=
ENST00000467848.1:n.124G=
ENST00000485278.5:n.1975G=
NM_001077365.1:c.1420G=	NP_001070833.1:p.Glu474=
NM_001077366.1:c.1258G=	NP_001070834.1:p.Glu420=
NM_001136113.1:c.1420G=	NP_001129585.1:p.Glu474=
NM_001136114.1:c.1069G=	NP_001129586.1:p.Glu357=
NM_007171.3:c.1486G=	NP_009102.3:p.Glu496=
XM_005272156.1:c.1486G=	XP_005272213.1:p.Glu496=
XM_005272158.1:c.1324G=	XP_005272215.1:p.Glu442=
XM_005272159.1:c.1135G=	XP_005272216.1:p.Glu379=
XM_005272162.1:c.289G=	XP_005272219.1:p.Glu97=
XM_006716932.1:c.1135G=	XP_006716995.1:p.Glu379=
XM_011518140.1:c.1339G=	XP_011516442.1:p.Glu447=
XM_011518141.1:c.1273G=	XP_011516443.1:p.Glu425=
XM_011518142.1:c.1177G=	XP_011516444.1:p.Glu393=
XM_011518143.1:c.1171G=	XP_011516445.1:p.Glu391=
XM_011518145.1:c.1030G=	XP_011516447.1:p.Glu344=
XM_011518147.1:c.358G=	XP_011516449.1:p.Glu120=
XR_929703.1:n.1662G=
NM_001353193.1:c.1486G=	NP_001340122.1:p.Glu496=
NM_001353194.1:c.1258G=	NP_001340123.1:p.Glu420=
NM_001353195.1:c.1069G=	NP_001340124.1:p.Glu357=
NM_001353196.1:c.1330G=	NP_001340125.1:p.Glu444=
NM_001353197.1:c.1324G=	NP_001340126.1:p.Glu442=
NM_001353198.1:c.1324G=	NP_001340127.1:p.Glu442=
NM_001353199.1:c.1135G=	NP_001340128.1:p.Glu379=
NM_001353200.1:c.964G=	NP_001340129.1:p.Glu322=
NR_148391.1:n.1470G=
NR_148392.1:n.1688G=
NR_148393.1:n.1609G=
NR_148394.1:n.1363G=
NR_148395.1:n.1761G=
NR_148396.1:n.1395G=
NR_148397.1:n.1520G=
NR_148398.1:n.1475G=
NR_148399.1:n.2001G=
NR_148400.1:n.1600G=
XM_005272162.3:c.289G=	XP_005272219.1:p.Glu97=
XM_006716932.2:c.1135G=	XP_006716995.1:p.Glu379=
XM_011518140.2:c.1339G=	XP_011516442.1:p.Glu447=
XM_011518141.2:c.1273G=	XP_011516443.1:p.Glu425=
XM_011518142.2:c.1177G=	XP_011516444.1:p.Glu393=
XM_011518143.2:c.1171G=	XP_011516445.1:p.Glu391=
XM_011518145.2:c.1030G=	XP_011516447.1:p.Glu344=
XM_017014205.2:c.289G=	XP_016869694.1:p.Glu97=
XM_024447380.1:c.289G=	XP_024303148.1:p.Glu97=
XM_024447381.1:c.595G=	XP_024303149.1:p.Glu199=
XM_024447382.1:c.289G=	XP_024303150.1:p.Glu97=
XR_001746160.2:n.1590G=
XR_001746162.2:n.1795G=
XR_001746164.1:n.1512G=
XR_001746166.2:n.1807G=
NM_001077365.2:c.1420G= MANE Select	NP_001070833.1:p.Glu474=
NM_001077366.2:c.1258G=	NP_001070834.1:p.Glu420=
NM_001136113.2:c.1420G=	NP_001129585.1:p.Glu474=
NM_001136114.2:c.1069G=	NP_001129586.1:p.Glu357=
NM_001353193.2:c.1486G=	NP_001340122.2:p.Glu496=
NM_001353194.2:c.1258G=	NP_001340123.1:p.Glu420=
NM_001353195.2:c.1069G=	NP_001340124.1:p.Glu357=
NM_001353196.2:c.1330G=	NP_001340125.1:p.Glu444=
NM_001353197.2:c.1324G=	NP_001340126.2:p.Glu442=
NM_001353198.2:c.1324G=	NP_001340127.2:p.Glu442=
NM_001353199.2:c.1135G=	NP_001340128.2:p.Glu379=
NM_001353200.2:c.964G=	NP_001340129.1:p.Glu322=
NM_001374689.1:c.1408G=	NP_001361618.1:p.Glu470=
NM_001374690.1:c.1365+354G=	NP_001361619.1:n.1365+354G=
NM_001374691.1:c.1069G=	NP_001361620.1:p.Glu357=
NM_001374692.1:c.1069G=	NP_001361621.1:p.Glu357=
NM_001374693.1:c.1069G=	NP_001361622.1:p.Glu357=
NM_001374695.1:c.1030G=	NP_001361624.1:p.Glu344=
NM_007171.4:c.1486G=	NP_009102.4:p.Glu496=
NR_148391.2:n.1454G=
NR_148392.2:n.1672G=
NR_148393.2:n.1593G=
NR_148394.2:n.1347G=
NR_148395.2:n.1745G=
NR_148396.2:n.1379G=
NR_148397.2:n.1504G=
NR_148398.2:n.1459G=
NR_148399.2:n.1985G=
NR_148400.2:n.1584G=