Canonical Allele Identifier: CA5293260

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131507514G>A , CM000671.2:g.131507514G>A	GRCh38
NC_000009.11:g.134382901G>A , CM000671.1:g.134382901G>A	GRCh37
NC_000009.10:g.133372722G>A	NCBI36
NG_008896.1:g.9613G>A
NG_008896.2:g.9613G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.427G>A MANE Select	NP_001070833.1:p.Glu143Lys
ENST00000402686.8:c.427G>A MANE Select	ENSP00000385797.4:p.Glu143Lys
NM_001077365.1:c.427G>A	NP_001070833.1:p.Glu143Lys
NM_001077366.1:c.265G>A	NP_001070834.1:p.Glu89Lys
NM_001077366.2:c.265G>A	NP_001070834.1:p.Glu89Lys
NM_001136113.1:c.427G>A	NP_001129585.1:p.Glu143Lys
NM_001136113.2:c.427G>A	NP_001129585.1:p.Glu143Lys
NM_001136114.1:c.76G>A	NP_001129586.1:p.Glu26Lys
NM_001136114.2:c.76G>A	NP_001129586.1:p.Glu26Lys
NM_001353193.1:c.427G>A	NP_001340122.1:p.Glu143Lys
NM_001353193.2:c.427G>A	NP_001340122.2:p.Glu143Lys
NM_001353194.1:c.265G>A	NP_001340123.1:p.Glu89Lys
NM_001353194.2:c.265G>A	NP_001340123.1:p.Glu89Lys
NM_001353195.1:c.76G>A	NP_001340124.1:p.Glu26Lys
NM_001353195.2:c.76G>A	NP_001340124.1:p.Glu26Lys
NM_001353196.1:c.337G>A	NP_001340125.1:p.Glu113Lys
NM_001353196.2:c.337G>A	NP_001340125.1:p.Glu113Lys
NM_001353197.1:c.265G>A	NP_001340126.1:p.Glu89Lys
NM_001353197.2:c.265G>A	NP_001340126.2:p.Glu89Lys
NM_001353198.1:c.265G>A	NP_001340127.1:p.Glu89Lys
NM_001353198.2:c.265G>A	NP_001340127.2:p.Glu89Lys
NM_001353199.1:c.76G>A	NP_001340128.1:p.Glu26Lys
NM_001353199.2:c.76G>A	NP_001340128.2:p.Glu26Lys
NM_001353200.1:c.-30+1061G>A	NP_001340129.1:n.-30+1061G>A
NM_001353200.2:c.-30+1061G>A	NP_001340129.1:n.-30+1061G>A
NM_001374689.1:c.265G>A	NP_001361618.1:p.Glu89Lys
NM_001374690.1:c.427G>A	NP_001361619.1:p.Glu143Lys
NM_001374691.1:c.76G>A	NP_001361620.1:p.Glu26Lys
NM_001374692.1:c.76G>A	NP_001361621.1:p.Glu26Lys
NM_001374693.1:c.265G>A	NP_001361622.1:p.Glu89Lys
NM_001374695.1:c.-29-1397G>A	NP_001361624.1:n.-29-1397G>A
NM_007171.3:c.427G>A	NP_009102.3:p.Glu143Lys
NM_007171.4:c.427G>A	NP_009102.4:p.Glu143Lys
NR_148391.1:n.477G>A
NR_148391.2:n.461G>A
NR_148392.1:n.629G>A
NR_148392.2:n.613G>A
NR_148393.1:n.477G>A
NR_148393.2:n.461G>A
NR_148394.1:n.477G>A
NR_148394.2:n.461G>A
NR_148395.1:n.629G>A
NR_148395.2:n.613G>A
NR_148396.1:n.370G>A
NR_148396.2:n.354G>A
NR_148397.1:n.522G>A
NR_148397.2:n.506G>A
NR_148398.1:n.477G>A
NR_148398.2:n.461G>A
NR_148399.1:n.869G>A
NR_148399.2:n.853G>A
NR_148400.1:n.463+1061G>A
NR_148400.2:n.447+1061G>A
ENST00000341012.11:c.265G>A	ENSP00000343034.7:p.Glu89Lys
ENST00000341012.12:c.265G>A	ENSP00000343034.7:p.Glu89Lys
ENST00000341012.13:c.265G>A	ENSP00000343034.7:p.Glu89Lys
ENST00000372220.5:c.-146+4441G>A	ENSP00000361294.5:n.-146+4441G>A
ENST00000372228.7:c.427G>A	ENSP00000361302.3:p.Glu143Lys
ENST00000372228.9:c.427G>A	ENSP00000361302.3:p.Glu143Lys
ENST00000402686.7:c.427G>A	ENSP00000385797.3:p.Glu143Lys
ENST00000404875.6:c.76G>A	ENSP00000384531.2:p.Glu26Lys
ENST00000404875.7:n.536G>A
ENST00000415075.5:c.76G>A	ENSP00000405149.1:p.Glu26Lys
ENST00000415075.6:c.*137G>A	ENSP00000405149.2:n.*137G>A
ENST00000418774.5:c.427G>A
ENST00000423007.5:c.427G>A	ENSP00000404119.1:p.Glu143Lys
ENST00000423007.6:c.418G>A	ENSP00000404119.2:p.Glu140Lys
ENST00000430619.1:c.76G>A	ENSP00000402083.1:p.Glu26Lys
ENST00000430619.2:c.-30+1061G>A	ENSP00000402083.2:n.-30+1061G>A
ENST00000441334.5:c.76G>A	ENSP00000395060.1:p.Glu26Lys
ENST00000448212.5:c.265G>A	ENSP00000403736.1:p.Glu89Lys
ENST00000676640.1:c.427G>A	ENSP00000503281.1:p.Glu143Lys
ENST00000676803.1:c.-126-2746G>A	ENSP00000503093.1:n.-126-2746G>A
ENST00000676835.1:c.76G>A	ENSP00000502911.1:p.Glu26Lys
ENST00000676915.1:c.280+1061G>A	ENSP00000504628.1:n.280+1061G>A
ENST00000677028.1:c.265G>A	ENSP00000503896.1:p.Ala89Thr
ENST00000677029.1:c.-30+1061G>A	ENSP00000502936.1:n.-30+1061G>A
ENST00000677099.1:c.*137G>A	ENSP00000504553.1:n.*137G>A
ENST00000677167.1:c.427G>A	ENSP00000503307.1:p.Glu143Lys
ENST00000677216.1:c.76G>A	ENSP00000503772.1:p.Glu26Lys
ENST00000677293.1:c.-29-2843G>A	ENSP00000504278.1:n.-29-2843G>A
ENST00000677295.1:c.265G>A	ENSP00000504346.1:p.Glu89Lys
ENST00000677295.2:c.*503G>A	ENSP00000504346.2:n.*503G>A
ENST00000677586.1:n.180+1061G>A
ENST00000677626.1:c.265G>A	ENSP00000503552.1:p.Glu89Lys
ENST00000677677.1:n.387G>A
ENST00000677729.1:c.427G>A	ENSP00000503581.1:p.Ala143Thr
ENST00000677853.1:c.265G>A	ENSP00000503488.1:p.Glu89Lys
ENST00000678264.1:c.427G>A	ENSP00000503157.1:p.Glu143Lys
ENST00000678264.2:c.*610G>A	ENSP00000503157.2:n.*610G>A
ENST00000678303.1:c.337G>A	ENSP00000503696.1:p.Glu113Lys
ENST00000678366.1:c.*610G>A	ENSP00000504353.1:n.*610G>A
ENST00000678546.1:c.265G>A	ENSP00000503062.1:p.Glu89Lys
ENST00000678548.1:c.*137G>A	ENSP00000503934.1:n.*137G>A
ENST00000678626.1:n.119+1061G>A
ENST00000678707.1:n.177+1061G>A
ENST00000678739.1:c.*485G>A	ENSP00000503806.1:n.*485G>A
ENST00000678785.1:c.265G>A	ENSP00000504231.1:p.Glu89Lys
ENST00000678833.1:c.427G>A	ENSP00000503893.1:p.Ala143Thr
ENST00000678942.2:c.123-1397G>A	ENSP00000504690.2:n.123-1397G>A
ENST00000679023.1:c.265G>A	ENSP00000503718.1:p.Glu89Lys
ENST00000679076.1:c.138G>A
ENST00000679111.1:c.427G>A	ENSP00000504257.1:p.Glu143Lys
ENST00000679189.1:c.76G>A	ENSP00000503356.1:p.Glu26Lys
ENST00000682070.1:n.624G>A
ENST00000682813.1:n.429G>A
ENST00000683229.1:c.-29-1397G>A	ENSP00000506964.1:n.-29-1397G>A
ENST00000683392.1:n.1515G>A
ENST00000683712.1:n.564G>A
ENST00000683900.1:n.1603G>A
ENST00000684579.1:n.609G>A
XM_005272156.1:c.427G>A	XP_005272213.1:p.Glu143Lys
XM_005272158.1:c.265G>A	XP_005272215.1:p.Glu89Lys
XM_005272159.1:c.76G>A	XP_005272216.1:p.Glu26Lys
XM_005272162.1:c.-973G>A	XP_005272219.1:n.-973G>A
XM_005272162.3:c.-973G>A	XP_005272219.1:n.-973G>A
XM_006716932.1:c.76G>A	XP_006716995.1:p.Glu26Lys
XM_006716932.2:c.76G>A	XP_006716995.1:p.Glu26Lys
XM_011518140.1:c.280+1061G>A	XP_011516442.1:n.280+1061G>A
XM_011518140.2:c.280+1061G>A	XP_011516442.1:n.280+1061G>A
XM_011518141.1:c.280+1061G>A	XP_011516443.1:n.280+1061G>A
XM_011518141.2:c.280+1061G>A	XP_011516443.1:n.280+1061G>A
XM_011518142.1:c.118+1061G>A	XP_011516444.1:n.118+1061G>A
XM_011518142.2:c.118+1061G>A	XP_011516444.1:n.118+1061G>A
XM_011518143.1:c.173+1061G>A	XP_011516445.1:n.173+1061G>A
XM_011518143.2:c.173+1061G>A	XP_011516445.1:n.173+1061G>A
XM_011518144.1:c.427G>A	XP_011516446.1:p.Glu143Lys
XM_011518145.1:c.-30+1061G>A	XP_011516447.1:n.-30+1061G>A
XM_011518145.2:c.-30+1061G>A	XP_011516447.1:n.-30+1061G>A
XM_011518146.1:c.173+1061G>A	XP_011516448.1:n.173+1061G>A
XM_017014205.2:c.-776G>A	XP_016869694.1:n.-776G>A
XM_024447380.1:c.-710+1061G>A	XP_024303148.1:n.-710+1061G>A
XM_024447381.1:c.-662G>A	XP_024303149.1:n.-662G>A
XM_024447382.1:c.-2369G>A	XP_024303150.1:n.-2369G>A
XR_001746160.2:n.597G>A
XR_001746162.2:n.597G>A
XR_001746164.1:n.375+1061G>A
XR_001746166.2:n.551G>A
XR_929703.1:n.603G>A