Canonical Allele Identifier: CA1881757952

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522047A= , CM000671.2:g.131522047A=	GRCh38
NC_000009.11:g.134397434A= , CM000671.1:g.134397434A=	GRCh37
NC_000009.10:g.133387255A=	NCBI36
NG_008896.1:g.24146A=
NG_008896.2:g.24146A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1664A=	ENSP00000343034.7:p.Asp555=
ENST00000404875.7:n.2366A=
ENST00000423007.6:c.1883A=	ENSP00000404119.2:p.Asp628=
ENST00000677295.2:c.*2170A=	ENSP00000504346.2:n.*2170A=
ENST00000678264.2:c.*2009A=	ENSP00000503157.2:n.*2009A=
ENST00000682070.1:n.2291-155A=
ENST00000682813.1:n.2230A=
ENST00000683392.1:n.4573-155A=
ENST00000683712.1:n.2231A=
ENST00000683900.1:n.3726A=
ENST00000684062.1:n.2492A=
ENST00000684579.1:n.3672A=
ENST00000684679.1:n.1053A=
ENST00000341012.12:c.1664A=	ENSP00000343034.7:p.Asp555=
ENST00000372220.5:c.695A=	ENSP00000361294.5:p.Asp232=
ENST00000372228.9:c.1892A=	ENSP00000361302.3:p.Asp631=
ENST00000402686.8:c.1826A= MANE Select	ENSP00000385797.4:p.Asp609=
ENST00000676640.1:c.1826A=	ENSP00000503281.1:p.Asp609=
ENST00000676803.1:c.887A=	ENSP00000503093.1:p.Asp296=
ENST00000676835.1:c.*1041A=	ENSP00000502911.1:n.*1041A=
ENST00000677029.1:c.1370A=	ENSP00000502936.1:p.Asp457=
ENST00000677099.1:c.*1536A=	ENSP00000504553.1:n.*1536A=
ENST00000677216.1:c.1475A=	ENSP00000503772.1:p.Asp492=
ENST00000677221.1:n.851A=
ENST00000677295.1:c.*1203-155A=	ENSP00000504346.1:n.*1203-155A=
ENST00000677444.1:c.1771A=
ENST00000677586.1:n.1193A=
ENST00000677626.1:c.1475A=	ENSP00000503552.1:p.Asp492=
ENST00000677853.1:c.*834A=	ENSP00000503488.1:n.*834A=
ENST00000678202.1:n.985A=
ENST00000678264.1:c.*1203A=	ENSP00000503157.1:n.*1203A=
ENST00000678303.1:c.1736A=	ENSP00000503696.1:p.Asp579=
ENST00000678366.1:c.*2075A=	ENSP00000504353.1:n.*2075A=
ENST00000678546.1:c.*1771A=	ENSP00000503062.1:n.*1771A=
ENST00000678548.1:c.*1965A=	ENSP00000503934.1:n.*1965A=
ENST00000678626.1:n.1662A=
ENST00000678739.1:c.*2147-155A=	ENSP00000503806.1:n.*2147-155A=
ENST00000678833.1:c.*1578A=	ENSP00000503893.1:n.*1578A=
ENST00000679023.1:c.1664A=	ENSP00000503718.1:p.Asp555=
ENST00000679076.1:c.1445A=
ENST00000679111.1:c.*582A=	ENSP00000504257.1:n.*582A=
ENST00000679189.1:c.1475A=	ENSP00000503356.1:p.Asp492=
ENST00000341012.11:c.1664A=	ENSP00000343034.7:p.Asp555=
ENST00000372220.4:c.689A=	ENSP00000361294.4:p.Asp230=
ENST00000372228.7:c.1892A=	ENSP00000361302.3:p.Asp631=
ENST00000402686.7:c.1826A=	ENSP00000385797.3:p.Asp609=
ENST00000404875.6:c.1475A=	ENSP00000384531.2:p.Asp492=
ENST00000423007.5:c.1826A=	ENSP00000404119.1:p.Asp609=
ENST00000485278.5:n.2376A=
ENST00000494883.1:n.369A=
NM_001077365.1:c.1826A=	NP_001070833.1:p.Asp609=
NM_001077366.1:c.1664A=	NP_001070834.1:p.Asp555=
NM_001136113.1:c.1826A=	NP_001129585.1:p.Asp609=
NM_001136114.1:c.1475A=	NP_001129586.1:p.Asp492=
NM_007171.3:c.1892A=	NP_009102.3:p.Asp631=
XM_005272156.1:c.1892A=	XP_005272213.1:p.Asp631=
XM_005272158.1:c.1730A=	XP_005272215.1:p.Asp577=
XM_005272159.1:c.1541A=	XP_005272216.1:p.Asp514=
XM_005272162.1:c.695A=	XP_005272219.1:p.Asp232=
XM_006716932.1:c.1541A=	XP_006716995.1:p.Asp514=
XM_011518140.1:c.1745A=	XP_011516442.1:p.Asp582=
XM_011518141.1:c.1679A=	XP_011516443.1:p.Asp560=
XM_011518142.1:c.1583A=	XP_011516444.1:p.Asp528=
XM_011518143.1:c.1577A=	XP_011516445.1:p.Asp526=
XM_011518145.1:c.1436A=	XP_011516447.1:p.Asp479=
XM_011518147.1:c.764A=	XP_011516449.1:p.Asp255=
XR_929703.1:n.2068A=
NM_001353193.1:c.1892A=	NP_001340122.1:p.Asp631=
NM_001353194.1:c.1664A=	NP_001340123.1:p.Asp555=
NM_001353195.1:c.1475A=	NP_001340124.1:p.Asp492=
NM_001353196.1:c.1736A=	NP_001340125.1:p.Asp579=
NM_001353197.1:c.1730A=	NP_001340126.1:p.Asp577=
NM_001353198.1:c.1730A=	NP_001340127.1:p.Asp577=
NM_001353199.1:c.1541A=	NP_001340128.1:p.Asp514=
NM_001353200.1:c.1370A=	NP_001340129.1:p.Asp457=
NR_148391.1:n.1876A=
NR_148392.1:n.2094A=
NR_148393.1:n.2015A=
NR_148394.1:n.1769A=
NR_148395.1:n.2167A=
NR_148396.1:n.1801A=
NR_148397.1:n.1926A=
NR_148398.1:n.1881A=
NR_148399.1:n.2407A=
NR_148400.1:n.2006A=
XM_005272162.3:c.695A=	XP_005272219.1:p.Asp232=
XM_006716932.2:c.1541A=	XP_006716995.1:p.Asp514=
XM_011518140.2:c.1745A=	XP_011516442.1:p.Asp582=
XM_011518141.2:c.1679A=	XP_011516443.1:p.Asp560=
XM_011518142.2:c.1583A=	XP_011516444.1:p.Asp528=
XM_011518143.2:c.1577A=	XP_011516445.1:p.Asp526=
XM_011518145.2:c.1436A=	XP_011516447.1:p.Asp479=
XM_017014205.2:c.695A=	XP_016869694.1:p.Asp232=
XM_024447380.1:c.695A=	XP_024303148.1:p.Asp232=
XM_024447381.1:c.1001A=	XP_024303149.1:p.Asp334=
XM_024447382.1:c.695A=	XP_024303150.1:p.Asp232=
XR_001746160.2:n.1996A=
XR_001746162.2:n.2201A=
XR_001746164.1:n.1918A=
XR_001746166.2:n.2213A=
NM_001077365.2:c.1826A= MANE Select	NP_001070833.1:p.Asp609=
NM_001077366.2:c.1664A=	NP_001070834.1:p.Asp555=
NM_001136113.2:c.1826A=	NP_001129585.1:p.Asp609=
NM_001136114.2:c.1475A=	NP_001129586.1:p.Asp492=
NM_001353193.2:c.1892A=	NP_001340122.2:p.Asp631=
NM_001353194.2:c.1664A=	NP_001340123.1:p.Asp555=
NM_001353195.2:c.1475A=	NP_001340124.1:p.Asp492=
NM_001353196.2:c.1736A=	NP_001340125.1:p.Asp579=
NM_001353197.2:c.1730A=	NP_001340126.2:p.Asp577=
NM_001353198.2:c.1730A=	NP_001340127.2:p.Asp577=
NM_001353199.2:c.1541A=	NP_001340128.2:p.Asp514=
NM_001353200.2:c.1370A=	NP_001340129.1:p.Asp457=
NM_001374689.1:c.1814A=	NP_001361618.1:p.Asp605=
NM_001374690.1:c.1607A=	NP_001361619.1:p.Asp536=
NM_001374691.1:c.1475A=	NP_001361620.1:p.Asp492=
NM_001374692.1:c.1475A=	NP_001361621.1:p.Asp492=
NM_001374693.1:c.1475A=	NP_001361622.1:p.Asp492=
NM_001374695.1:c.1436A=	NP_001361624.1:p.Asp479=
NM_007171.4:c.1892A=	NP_009102.4:p.Asp631=
NR_148391.2:n.1860A=
NR_148392.2:n.2078A=
NR_148393.2:n.1999A=
NR_148394.2:n.1753A=
NR_148395.2:n.2151A=
NR_148396.2:n.1785A=
NR_148397.2:n.1910A=
NR_148398.2:n.1865A=
NR_148399.2:n.2391A=
NR_148400.2:n.1990A=