Canonical Allele Identifier: CA278044
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs587777817

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522972dup , CM000671.2:g.131522972dup GRCh38
NC_000009.11:g.134398359dup , CM000671.1:g.134398359dup GRCh37
NC_000009.10:g.133388180dup NCBI36
NG_008896.1:g.25071dup
NG_008896.2:g.25071dup

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.1882dup ENSP00000343034.7:p.Ala628GlyfsTer27
ENST00000404875.7:n.2584dup
ENST00000423007.6:c.2101dup ENSP00000404119.2:p.Ala701GlyfsTer27
ENST00000677295.2:c.*2388dup ENSP00000504346.2:n.*2388dup
ENST00000678264.2:c.*2227dup ENSP00000503157.2:n.*2227dup
ENST00000682070.1:n.2354dup
ENST00000682639.1:c.41dup
ENST00000682813.1:n.2441dup
ENST00000683231.1:c.41dup
ENST00000683392.1:n.4636dup
ENST00000683712.1:n.2449dup
ENST00000683900.1:n.3944dup
ENST00000684062.1:n.2710dup
ENST00000684399.1:c.41dup
ENST00000684579.1:n.3890dup
ENST00000341012.12:c.1882dup ENSP00000343034.7:p.Ala628GlyfsTer27
ENST00000372220.5:c.913dup ENSP00000361294.5:p.Ala305GlyfsTer27
ENST00000372228.9:c.2110dup ENSP00000361302.3:p.Ala704GlyfsTer27
ENST00000402686.8:c.2044dup MANE Select ENSP00000385797.4:p.Ala682GlyfsTer27
ENST00000676640.1:c.2044dup ENSP00000503281.1:p.Ala682GlyfsTer27
ENST00000676803.1:c.1105dup ENSP00000503093.1:p.Ala369GlyfsTer27
ENST00000676835.1:c.*1259dup ENSP00000502911.1:n.*1259dup
ENST00000677029.1:c.1588dup ENSP00000502936.1:p.Ala530GlyfsTer27
ENST00000677099.1:c.*1754dup ENSP00000504553.1:n.*1754dup
ENST00000677216.1:c.1693dup ENSP00000503772.1:p.Ala565GlyfsTer27
ENST00000677221.1:n.1069dup
ENST00000677295.1:c.*1266dup ENSP00000504346.1:n.*1266dup
ENST00000677444.1:c.1989dup
ENST00000677586.1:n.1411dup
ENST00000677626.1:c.1693dup ENSP00000503552.1:p.Ala565GlyfsTer27
ENST00000677853.1:c.*1052dup ENSP00000503488.1:n.*1052dup
ENST00000678264.1:c.*1421dup ENSP00000503157.1:n.*1421dup
ENST00000678303.1:c.1954dup ENSP00000503696.1:p.Ala652GlyfsTer27
ENST00000678366.1:c.*2293dup ENSP00000504353.1:n.*2293dup
ENST00000678546.1:c.*1989dup ENSP00000503062.1:n.*1989dup
ENST00000678548.1:c.*2183dup ENSP00000503934.1:n.*2183dup
ENST00000678626.1:n.1880dup
ENST00000678739.1:c.*2210dup ENSP00000503806.1:n.*2210dup
ENST00000678833.1:c.*1796dup ENSP00000503893.1:n.*1796dup
ENST00000679023.1:c.1882dup ENSP00000503718.1:p.Ala628GlyfsTer27
ENST00000679076.1:c.1663dup
ENST00000679111.1:c.*800dup ENSP00000504257.1:n.*800dup
ENST00000679189.1:c.1693dup ENSP00000503356.1:p.Ala565GlyfsTer27
ENST00000341012.11:c.1882dup ENSP00000343034.7:p.Ala628GlyfsTer27
ENST00000372220.4:c.907dup ENSP00000361294.4:p.Ala303GlyfsTer27
ENST00000372228.7:c.2110dup ENSP00000361302.3:p.Ala704GlyfsTer27
ENST00000402686.7:c.2044dup ENSP00000385797.3:p.Ala682GlyfsTer27
ENST00000404875.6:c.1693dup ENSP00000384531.2:p.Ala565GlyfsTer27
ENST00000423007.5:c.2044dup ENSP00000404119.1:p.Ala682GlyfsTer27
ENST00000485278.5:n.2594dup
NM_001077365.1:c.2044dup NP_001070833.1:p.Ala682GlyfsTer27
NM_001077366.1:c.1882dup NP_001070834.1:p.Ala628GlyfsTer27
NM_001136113.1:c.2044dup NP_001129585.1:p.Ala682GlyfsTer27
NM_001136114.1:c.1693dup NP_001129586.1:p.Ala565GlyfsTer27
NM_007171.3:c.2110dup NP_009102.3:p.Ala704GlyfsTer27
XM_005272156.1:c.2110dup XP_005272213.1:p.Ala704GlyfsTer27
XM_005272158.1:c.1948dup XP_005272215.1:p.Ala650GlyfsTer27
XM_005272159.1:c.1759dup XP_005272216.1:p.Ala587GlyfsTer27
XM_005272162.1:c.913dup XP_005272219.1:p.Ala305GlyfsTer27
XM_006716932.1:c.1759dup XP_006716995.1:p.Ala587GlyfsTer27
XM_011518140.1:c.1963dup XP_011516442.1:p.Ala655GlyfsTer27
XM_011518141.1:c.1897dup XP_011516443.1:p.Ala633GlyfsTer27
XM_011518142.1:c.1801dup XP_011516444.1:p.Ala601GlyfsTer27
XM_011518143.1:c.1795dup XP_011516445.1:p.Ala599GlyfsTer27
XM_011518145.1:c.1654dup XP_011516447.1:p.Ala552GlyfsTer27
XM_011518147.1:c.982dup XP_011516449.1:p.Ala328GlyfsTer27
XR_929703.1:n.2286dup
NM_001353193.1:c.2110dup NP_001340122.1:p.Ala704GlyfsTer27
NM_001353194.1:c.1882dup NP_001340123.1:p.Ala628GlyfsTer27
NM_001353195.1:c.1693dup NP_001340124.1:p.Ala565GlyfsTer27
NM_001353196.1:c.1954dup NP_001340125.1:p.Ala652GlyfsTer27
NM_001353197.1:c.1948dup NP_001340126.1:p.Ala650GlyfsTer27
NM_001353198.1:c.1948dup NP_001340127.1:p.Ala650GlyfsTer27
NM_001353199.1:c.1759dup NP_001340128.1:p.Ala587GlyfsTer27
NM_001353200.1:c.1588dup NP_001340129.1:p.Ala530GlyfsTer27
NR_148391.1:n.2094dup
NR_148392.1:n.2312dup
NR_148393.1:n.2233dup
NR_148394.1:n.1987dup
NR_148395.1:n.2385dup
NR_148396.1:n.2019dup
NR_148397.1:n.2144dup
NR_148398.1:n.2099dup
NR_148399.1:n.2625dup
NR_148400.1:n.2224dup
XM_005272162.3:c.913dup XP_005272219.1:p.Ala305GlyfsTer27
XM_006716932.2:c.1759dup XP_006716995.1:p.Ala587GlyfsTer27
XM_011518140.2:c.1963dup XP_011516442.1:p.Ala655GlyfsTer27
XM_011518141.2:c.1897dup XP_011516443.1:p.Ala633GlyfsTer27
XM_011518142.2:c.1801dup XP_011516444.1:p.Ala601GlyfsTer27
XM_011518143.2:c.1795dup XP_011516445.1:p.Ala599GlyfsTer27
XM_011518145.2:c.1654dup XP_011516447.1:p.Ala552GlyfsTer27
XM_017014205.2:c.913dup XP_016869694.1:p.Ala305GlyfsTer27
XM_024447380.1:c.913dup XP_024303148.1:p.Ala305GlyfsTer27
XM_024447381.1:c.1219dup XP_024303149.1:p.Ala407GlyfsTer27
XM_024447382.1:c.913dup XP_024303150.1:p.Ala305GlyfsTer27
XR_001746160.2:n.2214dup
XR_001746162.2:n.2419dup
XR_001746164.1:n.2136dup
XR_001746166.2:n.2431dup
NM_001077365.2:c.2044dup MANE Select NP_001070833.1:p.Ala682GlyfsTer27
NM_001077366.2:c.1882dup NP_001070834.1:p.Ala628GlyfsTer27
NM_001136113.2:c.2044dup NP_001129585.1:p.Ala682GlyfsTer27
NM_001136114.2:c.1693dup NP_001129586.1:p.Ala565GlyfsTer27
NM_001353193.2:c.2110dup NP_001340122.2:p.Ala704GlyfsTer27
NM_001353194.2:c.1882dup NP_001340123.1:p.Ala628GlyfsTer27
NM_001353195.2:c.1693dup NP_001340124.1:p.Ala565GlyfsTer27
NM_001353196.2:c.1954dup NP_001340125.1:p.Ala652GlyfsTer27
NM_001353197.2:c.1948dup NP_001340126.2:p.Ala650GlyfsTer27
NM_001353198.2:c.1948dup NP_001340127.2:p.Ala650GlyfsTer27
NM_001353199.2:c.1759dup NP_001340128.2:p.Ala587GlyfsTer27
NM_001353200.2:c.1588dup NP_001340129.1:p.Ala530GlyfsTer27
NM_001374689.1:c.2032dup NP_001361618.1:p.Ala678GlyfsTer27
NM_001374690.1:c.1825dup NP_001361619.1:p.Ala609GlyfsTer27
NM_001374691.1:c.1693dup NP_001361620.1:p.Ala565GlyfsTer27
NM_001374692.1:c.1693dup NP_001361621.1:p.Ala565GlyfsTer27
NM_001374693.1:c.1693dup NP_001361622.1:p.Ala565GlyfsTer27
NM_001374695.1:c.1654dup NP_001361624.1:p.Ala552GlyfsTer27
NM_007171.4:c.2110dup NP_009102.4:p.Ala704GlyfsTer27
NR_148391.2:n.2078dup
NR_148392.2:n.2296dup
NR_148393.2:n.2217dup
NR_148394.2:n.1971dup
NR_148395.2:n.2369dup
NR_148396.2:n.2003dup
NR_148397.2:n.2128dup
NR_148398.2:n.2083dup
NR_148399.2:n.2609dup
NR_148400.2:n.2208dup