Canonical Allele Identifier: CA1881752729

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518927T= , CM000671.2:g.131518927T=	GRCh38
NC_000009.11:g.134394314T= , CM000671.1:g.134394314T=	GRCh37
NC_000009.10:g.133384135T=	NCBI36
NG_008896.1:g.21026T=
NG_008896.2:g.21026T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1294T=	ENSP00000343034.7:p.Trp432=
ENST00000404875.7:n.1996T=
ENST00000423007.6:c.1513T=	ENSP00000404119.2:p.Trp505=
ENST00000677295.2:c.*1800T=	ENSP00000504346.2:n.*1800T=
ENST00000678264.2:c.*1639T=	ENSP00000503157.2:n.*1639T=
ENST00000682070.1:n.1921T=
ENST00000682539.1:c.394T=
ENST00000682813.1:n.1860T=
ENST00000683392.1:n.4203T=
ENST00000683712.1:n.1861T=
ENST00000683900.1:n.3356T=
ENST00000684062.1:n.2122T=
ENST00000684579.1:n.3302T=
ENST00000684679.1:n.683T=
ENST00000341012.12:c.1294T=	ENSP00000343034.7:p.Trp432=
ENST00000372220.5:c.325T=	ENSP00000361294.5:p.Trp109=
ENST00000372228.9:c.1522T=	ENSP00000361302.3:p.Trp508=
ENST00000402686.8:c.1456T= MANE Select	ENSP00000385797.4:p.Trp486=
ENST00000676640.1:c.1456T=	ENSP00000503281.1:p.Trp486=
ENST00000676803.1:c.631T=	ENSP00000503093.1:p.Trp211=
ENST00000676835.1:c.*671T=	ENSP00000502911.1:n.*671T=
ENST00000677029.1:c.1000T=	ENSP00000502936.1:p.Trp334=
ENST00000677099.1:c.*1166T=	ENSP00000504553.1:n.*1166T=
ENST00000677216.1:c.1105T=	ENSP00000503772.1:p.Trp369=
ENST00000677221.1:n.481T=
ENST00000677295.1:c.*833T=	ENSP00000504346.1:n.*833T=
ENST00000677444.1:c.1401T=
ENST00000677586.1:n.937T=
ENST00000677626.1:c.1105T=	ENSP00000503552.1:p.Trp369=
ENST00000677677.1:n.1416T=
ENST00000677853.1:c.*464T=	ENSP00000503488.1:n.*464T=
ENST00000678202.1:n.615T=
ENST00000678264.1:c.*833T=	ENSP00000503157.1:n.*833T=
ENST00000678303.1:c.1366T=	ENSP00000503696.1:p.Trp456=
ENST00000678366.1:c.*1705T=	ENSP00000504353.1:n.*1705T=
ENST00000678546.1:c.*1401T=	ENSP00000503062.1:n.*1401T=
ENST00000678548.1:c.*1528T=	ENSP00000503934.1:n.*1528T=
ENST00000678626.1:n.1292T=
ENST00000678733.1:c.537T=
ENST00000678739.1:c.*1782T=	ENSP00000503806.1:n.*1782T=
ENST00000678833.1:c.*903T=	ENSP00000503893.1:n.*903T=
ENST00000679023.1:c.1294T=	ENSP00000503718.1:p.Trp432=
ENST00000679076.1:c.1075T=
ENST00000679111.1:c.*212T=	ENSP00000504257.1:n.*212T=
ENST00000679189.1:c.1105T=	ENSP00000503356.1:p.Trp369=
ENST00000341012.11:c.1294T=	ENSP00000343034.7:p.Trp432=
ENST00000372220.4:c.319T=	ENSP00000361294.4:p.Trp107=
ENST00000372228.7:c.1522T=	ENSP00000361302.3:p.Trp508=
ENST00000402686.7:c.1456T=	ENSP00000385797.3:p.Trp486=
ENST00000404875.6:c.1105T=	ENSP00000384531.2:p.Trp369=
ENST00000423007.5:c.1456T=	ENSP00000404119.1:p.Trp486=
ENST00000467848.1:n.160T=
ENST00000485278.5:n.2011T=
NM_001077365.1:c.1456T=	NP_001070833.1:p.Trp486=
NM_001077366.1:c.1294T=	NP_001070834.1:p.Trp432=
NM_001136113.1:c.1456T=	NP_001129585.1:p.Trp486=
NM_001136114.1:c.1105T=	NP_001129586.1:p.Trp369=
NM_007171.3:c.1522T=	NP_009102.3:p.Trp508=
XM_005272156.1:c.1522T=	XP_005272213.1:p.Trp508=
XM_005272158.1:c.1360T=	XP_005272215.1:p.Trp454=
XM_005272159.1:c.1171T=	XP_005272216.1:p.Trp391=
XM_005272162.1:c.325T=	XP_005272219.1:p.Trp109=
XM_006716932.1:c.1171T=	XP_006716995.1:p.Trp391=
XM_011518140.1:c.1375T=	XP_011516442.1:p.Trp459=
XM_011518141.1:c.1309T=	XP_011516443.1:p.Trp437=
XM_011518142.1:c.1213T=	XP_011516444.1:p.Trp405=
XM_011518143.1:c.1207T=	XP_011516445.1:p.Trp403=
XM_011518145.1:c.1066T=	XP_011516447.1:p.Trp356=
XM_011518147.1:c.394T=	XP_011516449.1:p.Trp132=
XR_929703.1:n.1698T=
NM_001353193.1:c.1522T=	NP_001340122.1:p.Trp508=
NM_001353194.1:c.1294T=	NP_001340123.1:p.Trp432=
NM_001353195.1:c.1105T=	NP_001340124.1:p.Trp369=
NM_001353196.1:c.1366T=	NP_001340125.1:p.Trp456=
NM_001353197.1:c.1360T=	NP_001340126.1:p.Trp454=
NM_001353198.1:c.1360T=	NP_001340127.1:p.Trp454=
NM_001353199.1:c.1171T=	NP_001340128.1:p.Trp391=
NM_001353200.1:c.1000T=	NP_001340129.1:p.Trp334=
NR_148391.1:n.1506T=
NR_148392.1:n.1724T=
NR_148393.1:n.1645T=
NR_148394.1:n.1399T=
NR_148395.1:n.1797T=
NR_148396.1:n.1431T=
NR_148397.1:n.1556T=
NR_148398.1:n.1511T=
NR_148399.1:n.2037T=
NR_148400.1:n.1636T=
XM_005272162.3:c.325T=	XP_005272219.1:p.Trp109=
XM_006716932.2:c.1171T=	XP_006716995.1:p.Trp391=
XM_011518140.2:c.1375T=	XP_011516442.1:p.Trp459=
XM_011518141.2:c.1309T=	XP_011516443.1:p.Trp437=
XM_011518142.2:c.1213T=	XP_011516444.1:p.Trp405=
XM_011518143.2:c.1207T=	XP_011516445.1:p.Trp403=
XM_011518145.2:c.1066T=	XP_011516447.1:p.Trp356=
XM_017014205.2:c.325T=	XP_016869694.1:p.Trp109=
XM_024447380.1:c.325T=	XP_024303148.1:p.Trp109=
XM_024447381.1:c.631T=	XP_024303149.1:p.Trp211=
XM_024447382.1:c.325T=	XP_024303150.1:p.Trp109=
XR_001746160.2:n.1626T=
XR_001746162.2:n.1831T=
XR_001746164.1:n.1548T=
XR_001746166.2:n.1843T=
NM_001077365.2:c.1456T= MANE Select	NP_001070833.1:p.Trp486=
NM_001077366.2:c.1294T=	NP_001070834.1:p.Trp432=
NM_001136113.2:c.1456T=	NP_001129585.1:p.Trp486=
NM_001136114.2:c.1105T=	NP_001129586.1:p.Trp369=
NM_001353193.2:c.1522T=	NP_001340122.2:p.Trp508=
NM_001353194.2:c.1294T=	NP_001340123.1:p.Trp432=
NM_001353195.2:c.1105T=	NP_001340124.1:p.Trp369=
NM_001353196.2:c.1366T=	NP_001340125.1:p.Trp456=
NM_001353197.2:c.1360T=	NP_001340126.2:p.Trp454=
NM_001353198.2:c.1360T=	NP_001340127.2:p.Trp454=
NM_001353199.2:c.1171T=	NP_001340128.2:p.Trp391=
NM_001353200.2:c.1000T=	NP_001340129.1:p.Trp334=
NM_001374689.1:c.1444T=	NP_001361618.1:p.Trp482=
NM_001374690.1:c.1365+390T=	NP_001361619.1:n.1365+390T=
NM_001374691.1:c.1105T=	NP_001361620.1:p.Trp369=
NM_001374692.1:c.1105T=	NP_001361621.1:p.Trp369=
NM_001374693.1:c.1105T=	NP_001361622.1:p.Trp369=
NM_001374695.1:c.1066T=	NP_001361624.1:p.Trp356=
NM_007171.4:c.1522T=	NP_009102.4:p.Trp508=
NR_148391.2:n.1490T=
NR_148392.2:n.1708T=
NR_148393.2:n.1629T=
NR_148394.2:n.1383T=
NR_148395.2:n.1781T=
NR_148396.2:n.1415T=
NR_148397.2:n.1540T=
NR_148398.2:n.1495T=
NR_148399.2:n.2021T=
NR_148400.2:n.1620T=