Canonical Allele Identifier: CA1881758246

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522154C= , CM000671.2:g.131522154C=	GRCh38
NC_000009.11:g.134397541C= , CM000671.1:g.134397541C=	GRCh37
NC_000009.10:g.133387362C=	NCBI36
NG_008896.1:g.24253C=
NG_008896.2:g.24253C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1771C=	ENSP00000343034.7:p.Leu591=
ENST00000404875.7:n.2473C=
ENST00000423007.6:c.1990C=	ENSP00000404119.2:p.Leu664=
ENST00000677295.2:c.*2277C=	ENSP00000504346.2:n.*2277C=
ENST00000678264.2:c.*2116C=	ENSP00000503157.2:n.*2116C=
ENST00000682070.1:n.2291-48C=
ENST00000682813.1:n.2337C=
ENST00000683392.1:n.4573-48C=
ENST00000683712.1:n.2338C=
ENST00000683900.1:n.3833C=
ENST00000684062.1:n.2599C=
ENST00000684579.1:n.3779C=
ENST00000684679.1:n.1160C=
ENST00000341012.12:c.1771C=	ENSP00000343034.7:p.Leu591=
ENST00000372220.5:c.802C=	ENSP00000361294.5:p.Leu268=
ENST00000372228.9:c.1999C=	ENSP00000361302.3:p.Leu667=
ENST00000402686.8:c.1933C= MANE Select	ENSP00000385797.4:p.Leu645=
ENST00000676640.1:c.1933C=	ENSP00000503281.1:p.Leu645=
ENST00000676803.1:c.994C=	ENSP00000503093.1:p.Leu332=
ENST00000676835.1:c.*1148C=	ENSP00000502911.1:n.*1148C=
ENST00000677029.1:c.1477C=	ENSP00000502936.1:p.Leu493=
ENST00000677099.1:c.*1643C=	ENSP00000504553.1:n.*1643C=
ENST00000677216.1:c.1582C=	ENSP00000503772.1:p.Leu528=
ENST00000677221.1:n.958C=
ENST00000677295.1:c.*1203-48C=	ENSP00000504346.1:n.*1203-48C=
ENST00000677444.1:c.1878C=
ENST00000677586.1:n.1300C=
ENST00000677626.1:c.1582C=	ENSP00000503552.1:p.Leu528=
ENST00000677853.1:c.*941C=	ENSP00000503488.1:n.*941C=
ENST00000678202.1:n.1092C=
ENST00000678264.1:c.*1310C=	ENSP00000503157.1:n.*1310C=
ENST00000678303.1:c.1843C=	ENSP00000503696.1:p.Leu615=
ENST00000678366.1:c.*2182C=	ENSP00000504353.1:n.*2182C=
ENST00000678546.1:c.*1878C=	ENSP00000503062.1:n.*1878C=
ENST00000678548.1:c.*2072C=	ENSP00000503934.1:n.*2072C=
ENST00000678626.1:n.1769C=
ENST00000678739.1:c.*2147-48C=	ENSP00000503806.1:n.*2147-48C=
ENST00000678833.1:c.*1685C=	ENSP00000503893.1:n.*1685C=
ENST00000679023.1:c.1771C=	ENSP00000503718.1:p.Leu591=
ENST00000679076.1:c.1552C=
ENST00000679111.1:c.*689C=	ENSP00000504257.1:n.*689C=
ENST00000679189.1:c.1582C=	ENSP00000503356.1:p.Leu528=
ENST00000341012.11:c.1771C=	ENSP00000343034.7:p.Leu591=
ENST00000372220.4:c.796C=	ENSP00000361294.4:p.Leu266=
ENST00000372228.7:c.1999C=	ENSP00000361302.3:p.Leu667=
ENST00000402686.7:c.1933C=	ENSP00000385797.3:p.Leu645=
ENST00000404875.6:c.1582C=	ENSP00000384531.2:p.Leu528=
ENST00000423007.5:c.1933C=	ENSP00000404119.1:p.Leu645=
ENST00000485278.5:n.2483C=
ENST00000494883.1:n.476C=
NM_001077365.1:c.1933C=	NP_001070833.1:p.Leu645=
NM_001077366.1:c.1771C=	NP_001070834.1:p.Leu591=
NM_001136113.1:c.1933C=	NP_001129585.1:p.Leu645=
NM_001136114.1:c.1582C=	NP_001129586.1:p.Leu528=
NM_007171.3:c.1999C=	NP_009102.3:p.Leu667=
XM_005272156.1:c.1999C=	XP_005272213.1:p.Leu667=
XM_005272158.1:c.1837C=	XP_005272215.1:p.Leu613=
XM_005272159.1:c.1648C=	XP_005272216.1:p.Leu550=
XM_005272162.1:c.802C=	XP_005272219.1:p.Leu268=
XM_006716932.1:c.1648C=	XP_006716995.1:p.Leu550=
XM_011518140.1:c.1852C=	XP_011516442.1:p.Leu618=
XM_011518141.1:c.1786C=	XP_011516443.1:p.Leu596=
XM_011518142.1:c.1690C=	XP_011516444.1:p.Leu564=
XM_011518143.1:c.1684C=	XP_011516445.1:p.Leu562=
XM_011518145.1:c.1543C=	XP_011516447.1:p.Leu515=
XM_011518147.1:c.871C=	XP_011516449.1:p.Leu291=
XR_929703.1:n.2175C=
NM_001353193.1:c.1999C=	NP_001340122.1:p.Leu667=
NM_001353194.1:c.1771C=	NP_001340123.1:p.Leu591=
NM_001353195.1:c.1582C=	NP_001340124.1:p.Leu528=
NM_001353196.1:c.1843C=	NP_001340125.1:p.Leu615=
NM_001353197.1:c.1837C=	NP_001340126.1:p.Leu613=
NM_001353198.1:c.1837C=	NP_001340127.1:p.Leu613=
NM_001353199.1:c.1648C=	NP_001340128.1:p.Leu550=
NM_001353200.1:c.1477C=	NP_001340129.1:p.Leu493=
NR_148391.1:n.1983C=
NR_148392.1:n.2201C=
NR_148393.1:n.2122C=
NR_148394.1:n.1876C=
NR_148395.1:n.2274C=
NR_148396.1:n.1908C=
NR_148397.1:n.2033C=
NR_148398.1:n.1988C=
NR_148399.1:n.2514C=
NR_148400.1:n.2113C=
XM_005272162.3:c.802C=	XP_005272219.1:p.Leu268=
XM_006716932.2:c.1648C=	XP_006716995.1:p.Leu550=
XM_011518140.2:c.1852C=	XP_011516442.1:p.Leu618=
XM_011518141.2:c.1786C=	XP_011516443.1:p.Leu596=
XM_011518142.2:c.1690C=	XP_011516444.1:p.Leu564=
XM_011518143.2:c.1684C=	XP_011516445.1:p.Leu562=
XM_011518145.2:c.1543C=	XP_011516447.1:p.Leu515=
XM_017014205.2:c.802C=	XP_016869694.1:p.Leu268=
XM_024447380.1:c.802C=	XP_024303148.1:p.Leu268=
XM_024447381.1:c.1108C=	XP_024303149.1:p.Leu370=
XM_024447382.1:c.802C=	XP_024303150.1:p.Leu268=
XR_001746160.2:n.2103C=
XR_001746162.2:n.2308C=
XR_001746164.1:n.2025C=
XR_001746166.2:n.2320C=
NM_001077365.2:c.1933C= MANE Select	NP_001070833.1:p.Leu645=
NM_001077366.2:c.1771C=	NP_001070834.1:p.Leu591=
NM_001136113.2:c.1933C=	NP_001129585.1:p.Leu645=
NM_001136114.2:c.1582C=	NP_001129586.1:p.Leu528=
NM_001353193.2:c.1999C=	NP_001340122.2:p.Leu667=
NM_001353194.2:c.1771C=	NP_001340123.1:p.Leu591=
NM_001353195.2:c.1582C=	NP_001340124.1:p.Leu528=
NM_001353196.2:c.1843C=	NP_001340125.1:p.Leu615=
NM_001353197.2:c.1837C=	NP_001340126.2:p.Leu613=
NM_001353198.2:c.1837C=	NP_001340127.2:p.Leu613=
NM_001353199.2:c.1648C=	NP_001340128.2:p.Leu550=
NM_001353200.2:c.1477C=	NP_001340129.1:p.Leu493=
NM_001374689.1:c.1921C=	NP_001361618.1:p.Leu641=
NM_001374690.1:c.1714C=	NP_001361619.1:p.Leu572=
NM_001374691.1:c.1582C=	NP_001361620.1:p.Leu528=
NM_001374692.1:c.1582C=	NP_001361621.1:p.Leu528=
NM_001374693.1:c.1582C=	NP_001361622.1:p.Leu528=
NM_001374695.1:c.1543C=	NP_001361624.1:p.Leu515=
NM_007171.4:c.1999C=	NP_009102.4:p.Leu667=
NR_148391.2:n.1967C=
NR_148392.2:n.2185C=
NR_148393.2:n.2106C=
NR_148394.2:n.1860C=
NR_148395.2:n.2258C=
NR_148396.2:n.1892C=
NR_148397.2:n.2017C=
NR_148398.2:n.1972C=
NR_148399.2:n.2498C=
NR_148400.2:n.2097C=