Canonical Allele Identifier: CA1881754753

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131520175G= , CM000671.2:g.131520175G=	GRCh38
NC_000009.11:g.134395562G= , CM000671.1:g.134395562G=	GRCh37
NC_000009.10:g.133385383G=	NCBI36
NG_008896.1:g.22274G=
NG_008896.2:g.22274G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1680G= MANE Select	NP_001070833.1:p.Trp560=
ENST00000402686.8:c.1680G= MANE Select	ENSP00000385797.4:p.Trp560=
NM_001077365.1:c.1680G=	NP_001070833.1:p.Trp560=
NM_001077366.1:c.1518G=	NP_001070834.1:p.Trp506=
NM_001077366.2:c.1518G=	NP_001070834.1:p.Trp506=
NM_001136113.1:c.1680G=	NP_001129585.1:p.Trp560=
NM_001136113.2:c.1680G=	NP_001129585.1:p.Trp560=
NM_001136114.1:c.1329G=	NP_001129586.1:p.Trp443=
NM_001136114.2:c.1329G=	NP_001129586.1:p.Trp443=
NM_001353193.1:c.1746G=	NP_001340122.1:p.Trp582=
NM_001353193.2:c.1746G=	NP_001340122.2:p.Trp582=
NM_001353194.1:c.1518G=	NP_001340123.1:p.Trp506=
NM_001353194.2:c.1518G=	NP_001340123.1:p.Trp506=
NM_001353195.1:c.1329G=	NP_001340124.1:p.Trp443=
NM_001353195.2:c.1329G=	NP_001340124.1:p.Trp443=
NM_001353196.1:c.1590G=	NP_001340125.1:p.Trp530=
NM_001353196.2:c.1590G=	NP_001340125.1:p.Trp530=
NM_001353197.1:c.1584G=	NP_001340126.1:p.Trp528=
NM_001353197.2:c.1584G=	NP_001340126.2:p.Trp528=
NM_001353198.1:c.1584G=	NP_001340127.1:p.Trp528=
NM_001353198.2:c.1584G=	NP_001340127.2:p.Trp528=
NM_001353199.1:c.1395G=	NP_001340128.1:p.Trp465=
NM_001353199.2:c.1395G=	NP_001340128.2:p.Trp465=
NM_001353200.1:c.1224G=	NP_001340129.1:p.Trp408=
NM_001353200.2:c.1224G=	NP_001340129.1:p.Trp408=
NM_001374689.1:c.1668G=	NP_001361618.1:p.Trp556=
NM_001374690.1:c.1461G=	NP_001361619.1:p.Trp487=
NM_001374691.1:c.1329G=	NP_001361620.1:p.Trp443=
NM_001374692.1:c.1329G=	NP_001361621.1:p.Trp443=
NM_001374693.1:c.1329G=	NP_001361622.1:p.Trp443=
NM_001374695.1:c.1290G=	NP_001361624.1:p.Trp430=
NM_007171.3:c.1746G=	NP_009102.3:p.Trp582=
NM_007171.4:c.1746G=	NP_009102.4:p.Trp582=
NR_148391.1:n.1730G=
NR_148391.2:n.1714G=
NR_148392.1:n.1948G=
NR_148392.2:n.1932G=
NR_148393.1:n.1869G=
NR_148393.2:n.1853G=
NR_148394.1:n.1623G=
NR_148394.2:n.1607G=
NR_148395.1:n.2021G=
NR_148395.2:n.2005G=
NR_148396.1:n.1655G=
NR_148396.2:n.1639G=
NR_148397.1:n.1780G=
NR_148397.2:n.1764G=
NR_148398.1:n.1735G=
NR_148398.2:n.1719G=
NR_148399.1:n.2261G=
NR_148399.2:n.2245G=
NR_148400.1:n.1860G=
NR_148400.2:n.1844G=
ENST00000341012.11:c.1518G=	ENSP00000343034.7:p.Trp506=
ENST00000341012.12:c.1518G=	ENSP00000343034.7:p.Trp506=
ENST00000341012.13:c.1518G=	ENSP00000343034.7:p.Trp506=
ENST00000372220.4:c.543G=	ENSP00000361294.4:p.Trp181=
ENST00000372220.5:c.549G=	ENSP00000361294.5:p.Trp183=
ENST00000372228.7:c.1746G=	ENSP00000361302.3:p.Trp582=
ENST00000372228.9:c.1746G=	ENSP00000361302.3:p.Trp582=
ENST00000402686.7:c.1680G=	ENSP00000385797.3:p.Trp560=
ENST00000404875.6:c.1329G=	ENSP00000384531.2:p.Trp443=
ENST00000404875.7:n.2220G=
ENST00000423007.5:c.1680G=	ENSP00000404119.1:p.Trp560=
ENST00000423007.6:c.1737G=	ENSP00000404119.2:p.Trp579=
ENST00000467848.1:n.384G=
ENST00000485278.5:n.2230G=
ENST00000676640.1:c.1680G=	ENSP00000503281.1:p.Trp560=
ENST00000676803.1:c.759+689G=	ENSP00000503093.1:n.759+689G=
ENST00000676835.1:c.*895G=	ENSP00000502911.1:n.*895G=
ENST00000677029.1:c.1224G=	ENSP00000502936.1:p.Trp408=
ENST00000677099.1:c.*1390G=	ENSP00000504553.1:n.*1390G=
ENST00000677216.1:c.1329G=	ENSP00000503772.1:p.Trp443=
ENST00000677221.1:n.705G=
ENST00000677295.1:c.*1057G=	ENSP00000504346.1:n.*1057G=
ENST00000677295.2:c.*2024G=	ENSP00000504346.2:n.*2024G=
ENST00000677444.1:c.1625G=
ENST00000677586.1:n.1065+689G=
ENST00000677626.1:c.1329G=	ENSP00000503552.1:p.Trp443=
ENST00000677677.1:n.1640G=
ENST00000677853.1:c.*688G=	ENSP00000503488.1:n.*688G=
ENST00000678202.1:n.839G=
ENST00000678264.1:c.*1057G=	ENSP00000503157.1:n.*1057G=
ENST00000678264.2:c.*1863G=	ENSP00000503157.2:n.*1863G=
ENST00000678303.1:c.1590G=	ENSP00000503696.1:p.Trp530=
ENST00000678366.1:c.*1929G=	ENSP00000504353.1:n.*1929G=
ENST00000678546.1:c.*1625G=	ENSP00000503062.1:n.*1625G=
ENST00000678548.1:c.*1752G=	ENSP00000503934.1:n.*1752G=
ENST00000678626.1:n.1516G=
ENST00000678739.1:c.*2001G=	ENSP00000503806.1:n.*2001G=
ENST00000678833.1:c.*1432G=	ENSP00000503893.1:n.*1432G=
ENST00000679023.1:c.1518G=	ENSP00000503718.1:p.Trp506=
ENST00000679076.1:c.1299G=
ENST00000679111.1:c.*436G=	ENSP00000504257.1:n.*436G=
ENST00000679189.1:c.1329G=	ENSP00000503356.1:p.Trp443=
ENST00000682070.1:n.2145G=
ENST00000682813.1:n.2084G=
ENST00000683392.1:n.4427G=
ENST00000683712.1:n.2085G=
ENST00000683900.1:n.3580G=
ENST00000684062.1:n.2346G=
ENST00000684579.1:n.3526G=
ENST00000684679.1:n.907G=
XM_005272156.1:c.1746G=	XP_005272213.1:p.Trp582=
XM_005272158.1:c.1584G=	XP_005272215.1:p.Trp528=
XM_005272159.1:c.1395G=	XP_005272216.1:p.Trp465=
XM_005272162.1:c.549G=	XP_005272219.1:p.Trp183=
XM_005272162.3:c.549G=	XP_005272219.1:p.Trp183=
XM_006716932.1:c.1395G=	XP_006716995.1:p.Trp465=
XM_006716932.2:c.1395G=	XP_006716995.1:p.Trp465=
XM_011518140.1:c.1599G=	XP_011516442.1:p.Trp533=
XM_011518140.2:c.1599G=	XP_011516442.1:p.Trp533=
XM_011518141.1:c.1533G=	XP_011516443.1:p.Trp511=
XM_011518141.2:c.1533G=	XP_011516443.1:p.Trp511=
XM_011518142.1:c.1437G=	XP_011516444.1:p.Trp479=
XM_011518142.2:c.1437G=	XP_011516444.1:p.Trp479=
XM_011518143.1:c.1431G=	XP_011516445.1:p.Trp477=
XM_011518143.2:c.1431G=	XP_011516445.1:p.Trp477=
XM_011518145.1:c.1290G=	XP_011516447.1:p.Trp430=
XM_011518145.2:c.1290G=	XP_011516447.1:p.Trp430=
XM_011518147.1:c.618G=	XP_011516449.1:p.Trp206=
XM_017014205.2:c.549G=	XP_016869694.1:p.Trp183=
XM_024447380.1:c.549G=	XP_024303148.1:p.Trp183=
XM_024447381.1:c.855G=	XP_024303149.1:p.Trp285=
XM_024447382.1:c.549G=	XP_024303150.1:p.Trp183=
XR_001746160.2:n.1850G=
XR_001746162.2:n.2055G=
XR_001746164.1:n.1772G=
XR_001746166.2:n.2067G=
XR_929703.1:n.1922G=