Canonical Allele Identifier: CA2692194577
Community Standard Title: NM_001077365.2(POMT1):c.692dup (p.Leu231PhefsTer?)
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131509989dup , CM000671.2:g.131509989dup GRCh38
NC_000009.11:g.134385376dup , CM000671.1:g.134385376dup GRCh37
NC_000009.10:g.133375197dup NCBI36
NG_008896.1:g.12088dup
NG_008896.2:g.12088dup

Transcript Alleles

HGVS Amino-acid Change
NM_001077365.2:c.692dup MANE Select NP_001070833.1:p.Leu231PhefsTer?
ENST00000402686.8:c.692dup MANE Select ENSP00000385797.4:p.Leu231PhefsTer?
NM_001077365.1:c.692dup NP_001070833.1:p.Leu231PhefsTer?
NM_001077366.1:c.530dup NP_001070834.1:p.Leu177PhefsTer?
NM_001077366.2:c.530dup NP_001070834.1:p.Leu177PhefsTer?
NM_001136113.1:c.692dup NP_001129585.1:p.Leu231PhefsTer?
NM_001136113.2:c.692dup NP_001129585.1:p.Leu231PhefsTer?
NM_001136114.1:c.341dup NP_001129586.1:p.Leu114PhefsTer?
NM_001136114.2:c.341dup NP_001129586.1:p.Leu114PhefsTer?
NM_001353193.1:c.692dup NP_001340122.1:p.Leu231PhefsTer7
NM_001353193.2:c.692dup NP_001340122.2:p.Leu231PhefsTer7
NM_001353194.1:c.530dup NP_001340123.1:p.Leu177PhefsTer?
NM_001353194.2:c.530dup NP_001340123.1:p.Leu177PhefsTer?
NM_001353195.1:c.341dup NP_001340124.1:p.Leu114PhefsTer?
NM_001353195.2:c.341dup NP_001340124.1:p.Leu114PhefsTer?
NM_001353196.1:c.602dup NP_001340125.1:p.Leu201PhefsTer?
NM_001353196.2:c.602dup NP_001340125.1:p.Leu201PhefsTer?
NM_001353197.1:c.530dup NP_001340126.1:p.Leu177PhefsTer7
NM_001353197.2:c.530dup NP_001340126.2:p.Leu177PhefsTer7
NM_001353198.1:c.530dup NP_001340127.1:p.Leu177PhefsTer7
NM_001353198.2:c.530dup NP_001340127.2:p.Leu177PhefsTer7
NM_001353199.1:c.341dup NP_001340128.1:p.Leu114PhefsTer7
NM_001353199.2:c.341dup NP_001340128.2:p.Leu114PhefsTer7
NM_001353200.1:c.236dup NP_001340129.1:p.Leu79PhefsTer?
NM_001353200.2:c.236dup NP_001340129.1:p.Leu79PhefsTer?
NM_001374689.1:c.530dup NP_001361618.1:p.Leu177PhefsTer7
NM_001374690.1:c.692dup NP_001361619.1:p.Leu231PhefsTer?
NM_001374691.1:c.341dup NP_001361620.1:p.Leu114PhefsTer?
NM_001374692.1:c.341dup NP_001361621.1:p.Leu114PhefsTer?
NM_001374693.1:c.530dup NP_001361622.1:p.Leu177PhefsTer?
NM_001374695.1:c.236dup NP_001361624.1:p.Leu79PhefsTer7
NM_007171.3:c.692dup NP_009102.3:p.Leu231PhefsTer7
NM_007171.4:c.692dup NP_009102.4:p.Leu231PhefsTer7
NR_148391.1:n.742dup
NR_148391.2:n.726dup
NR_148392.1:n.894dup
NR_148392.2:n.878dup
NR_148393.1:n.742dup
NR_148393.2:n.726dup
NR_148394.1:n.630dup
NR_148394.2:n.614dup
NR_148395.1:n.894dup
NR_148395.2:n.878dup
NR_148396.1:n.523dup
NR_148396.2:n.507dup
NR_148397.1:n.787dup
NR_148397.2:n.771dup
NR_148398.1:n.742dup
NR_148398.2:n.726dup
NR_148399.1:n.1134dup
NR_148399.2:n.1118dup
NR_148400.1:n.728dup
NR_148400.2:n.712dup
ENST00000341012.11:c.530dup ENSP00000343034.7:p.Leu177PhefsTer?
ENST00000341012.12:c.530dup ENSP00000343034.7:p.Leu177PhefsTer?
ENST00000341012.13:c.530dup ENSP00000343034.7:p.Leu177PhefsTer?
ENST00000372220.5:c.-145-2052dup ENSP00000361294.5:n.-145-2052dup
ENST00000372228.7:c.692dup ENSP00000361302.3:p.Leu231PhefsTer7
ENST00000372228.9:c.692dup ENSP00000361302.3:p.Leu231PhefsTer7
ENST00000402686.7:c.692dup ENSP00000385797.3:p.Leu231PhefsTer?
ENST00000404875.6:c.341dup ENSP00000384531.2:p.Leu114PhefsTer?
ENST00000404875.7:n.801dup
ENST00000415075.5:c.189-368dup ENSP00000405149.1:n.189-368dup
ENST00000415075.6:c.*250-368dup ENSP00000405149.2:n.*250-368dup
ENST00000423007.5:c.692dup ENSP00000404119.1:p.Leu231PhefsTer?
ENST00000423007.6:c.683dup ENSP00000404119.2:p.Leu228PhefsTer7
ENST00000430619.1:c.341dup ENSP00000402083.1:p.Leu114PhefsTer?
ENST00000430619.2:c.236dup ENSP00000402083.2:p.Leu79PhefsTer7
ENST00000441334.5:c.341dup ENSP00000395060.1:p.Leu114PhefsTer7
ENST00000448212.5:c.530dup ENSP00000403736.1:p.Leu177PhefsTer7
ENST00000462375.5:n.250dup
ENST00000462375.6:n.516dup
ENST00000462375.7:n.199dup
ENST00000676640.1:c.692dup ENSP00000503281.1:p.Leu231PhefsTer?
ENST00000676803.1:c.-126-271dup ENSP00000503093.1:n.-126-271dup
ENST00000676835.1:c.189-271dup ENSP00000502911.1:n.189-271dup
ENST00000676915.1:c.545dup ENSP00000504628.1:p.Leu182PhefsTer?
ENST00000677029.1:c.236dup ENSP00000502936.1:p.Leu79PhefsTer?
ENST00000677099.1:c.*402dup ENSP00000504553.1:n.*402dup
ENST00000677216.1:c.341dup ENSP00000503772.1:p.Leu114PhefsTer?
ENST00000677293.1:c.-29-368dup ENSP00000504278.1:n.-29-368dup
ENST00000677295.1:c.530dup ENSP00000504346.1:p.Leu177PhefsTer7
ENST00000677295.2:c.*768dup ENSP00000504346.2:n.*768dup
ENST00000677444.1:c.235dup
ENST00000677586.1:n.181-271dup
ENST00000677626.1:c.530dup ENSP00000503552.1:p.Leu177PhefsTer?
ENST00000677677.1:n.652dup
ENST00000677729.1:c.*139dup ENSP00000503581.1:n.*139dup
ENST00000677853.1:c.378-368dup ENSP00000503488.1:n.378-368dup
ENST00000677944.1:c.59-368dup
ENST00000678264.1:c.692dup ENSP00000503157.1:p.Leu231PhefsTer7
ENST00000678264.2:c.*875dup ENSP00000503157.2:n.*875dup
ENST00000678303.1:c.602dup ENSP00000503696.1:p.Leu201PhefsTer?
ENST00000678366.1:c.*875dup ENSP00000504353.1:n.*875dup
ENST00000678546.1:c.530dup ENSP00000503062.1:p.Leu177PhefsTer7
ENST00000678548.1:c.*496dup ENSP00000503934.1:n.*496dup
ENST00000678626.1:n.384dup
ENST00000678693.1:n.375dup
ENST00000678707.1:n.330dup
ENST00000678739.1:c.*750dup ENSP00000503806.1:n.*750dup
ENST00000678833.1:c.*139dup ENSP00000503893.1:n.*139dup
ENST00000678942.2:c.387dup ENSP00000504690.2:p.Val130CysfsTer4
ENST00000679023.1:c.530dup ENSP00000503718.1:p.Leu177PhefsTer?
ENST00000679076.1:c.403dup
ENST00000679111.1:c.692dup ENSP00000504257.1:p.Leu231PhefsTer?
ENST00000679189.1:c.341dup ENSP00000503356.1:p.Leu114PhefsTer?
ENST00000682070.1:n.889dup
ENST00000682813.1:n.694dup
ENST00000683134.1:c.66+181dup
ENST00000683392.1:n.3176dup
ENST00000683712.1:n.829dup
ENST00000683855.1:n.87dup
ENST00000683900.1:n.1756dup
ENST00000684062.1:n.1095dup
ENST00000684579.1:n.2270dup
XM_005272156.1:c.692dup XP_005272213.1:p.Leu231PhefsTer7
XM_005272158.1:c.530dup XP_005272215.1:p.Leu177PhefsTer7
XM_005272159.1:c.341dup XP_005272216.1:p.Leu114PhefsTer7
XM_005272162.1:c.-708dup XP_005272219.1:n.-708dup
XM_005272162.3:c.-708dup XP_005272219.1:n.-708dup
XM_006716932.1:c.341dup XP_006716995.1:p.Leu114PhefsTer7
XM_006716932.2:c.341dup XP_006716995.1:p.Leu114PhefsTer7
XM_011518140.1:c.545dup XP_011516442.1:p.Leu182PhefsTer7
XM_011518140.2:c.545dup XP_011516442.1:p.Leu182PhefsTer7
XM_011518141.1:c.545dup XP_011516443.1:p.Leu182PhefsTer?
XM_011518141.2:c.545dup XP_011516443.1:p.Leu182PhefsTer?
XM_011518142.1:c.383dup XP_011516444.1:p.Leu128PhefsTer7
XM_011518142.2:c.383dup XP_011516444.1:p.Leu128PhefsTer7
XM_011518143.1:c.438dup XP_011516445.1:p.Val147CysfsTer?
XM_011518143.2:c.438dup XP_011516445.1:p.Val147CysfsTer?
XM_011518144.1:c.692dup XP_011516446.1:p.Leu231PhefsTer7
XM_011518145.1:c.236dup XP_011516447.1:p.Leu79PhefsTer7
XM_011518145.2:c.236dup XP_011516447.1:p.Leu79PhefsTer7
XM_011518146.1:c.438dup XP_011516448.1:p.Val147CysfsTer?
XM_017014205.2:c.-511dup XP_016869694.1:n.-511dup
XM_024447380.1:c.-445dup XP_024303148.1:n.-445dup
XM_024447381.1:c.-397dup XP_024303149.1:n.-397dup
XM_024447382.1:c.-708dup XP_024303150.1:n.-708dup
XR_001746160.2:n.862dup
XR_001746162.2:n.862dup
XR_001746164.1:n.640dup
XR_001746166.2:n.816dup
XR_929703.1:n.868dup