Canonical Allele Identifier: CA375314476
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522145T>G , CM000671.2:g.131522145T>G GRCh38
NC_000009.11:g.134397532T>G , CM000671.1:g.134397532T>G GRCh37
NC_000009.10:g.133387353T>G NCBI36
NG_008896.1:g.24244T>G
NG_008896.2:g.24244T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1762T>G ENSP00000343034.7:p.Tyr588Asp
ENST00000404875.7:n.2464T>G
ENST00000423007.6:c.1981T>G ENSP00000404119.2:p.Tyr661Asp
ENST00000677295.2:c.*2268T>G ENSP00000504346.2:n.*2268T>G
ENST00000678264.2:c.*2107T>G ENSP00000503157.2:n.*2107T>G
ENST00000682070.1:n.2291-57T>G
ENST00000682813.1:n.2328T>G
ENST00000683392.1:n.4573-57T>G
ENST00000683712.1:n.2329T>G
ENST00000683900.1:n.3824T>G
ENST00000684062.1:n.2590T>G
ENST00000684579.1:n.3770T>G
ENST00000684679.1:n.1151T>G
ENST00000341012.12:c.1762T>G ENSP00000343034.7:p.Tyr588Asp
ENST00000372220.5:c.793T>G ENSP00000361294.5:p.Tyr265Asp
ENST00000372228.9:c.1990T>G ENSP00000361302.3:p.Tyr664Asp
ENST00000402686.8:c.1924T>G MANE Select ENSP00000385797.4:p.Tyr642Asp
ENST00000676640.1:c.1924T>G ENSP00000503281.1:p.Tyr642Asp
ENST00000676803.1:c.985T>G ENSP00000503093.1:p.Tyr329Asp
ENST00000676835.1:c.*1139T>G ENSP00000502911.1:n.*1139T>G
ENST00000677029.1:c.1468T>G ENSP00000502936.1:p.Tyr490Asp
ENST00000677099.1:c.*1634T>G ENSP00000504553.1:n.*1634T>G
ENST00000677216.1:c.1573T>G ENSP00000503772.1:p.Tyr525Asp
ENST00000677221.1:n.949T>G
ENST00000677295.1:c.*1203-57T>G ENSP00000504346.1:n.*1203-57T>G
ENST00000677444.1:c.1869T>G
ENST00000677586.1:n.1291T>G
ENST00000677626.1:c.1573T>G ENSP00000503552.1:p.Tyr525Asp
ENST00000677853.1:c.*932T>G ENSP00000503488.1:n.*932T>G
ENST00000678202.1:n.1083T>G
ENST00000678264.1:c.*1301T>G ENSP00000503157.1:n.*1301T>G
ENST00000678303.1:c.1834T>G ENSP00000503696.1:p.Tyr612Asp
ENST00000678366.1:c.*2173T>G ENSP00000504353.1:n.*2173T>G
ENST00000678546.1:c.*1869T>G ENSP00000503062.1:n.*1869T>G
ENST00000678548.1:c.*2063T>G ENSP00000503934.1:n.*2063T>G
ENST00000678626.1:n.1760T>G
ENST00000678739.1:c.*2147-57T>G ENSP00000503806.1:n.*2147-57T>G
ENST00000678833.1:c.*1676T>G ENSP00000503893.1:n.*1676T>G
ENST00000679023.1:c.1762T>G ENSP00000503718.1:p.Tyr588Asp
ENST00000679076.1:c.1543T>G
ENST00000679111.1:c.*680T>G ENSP00000504257.1:n.*680T>G
ENST00000679189.1:c.1573T>G ENSP00000503356.1:p.Tyr525Asp
ENST00000341012.11:c.1762T>G ENSP00000343034.7:p.Tyr588Asp
ENST00000372220.4:c.787T>G ENSP00000361294.4:p.Tyr263Asp
ENST00000372228.7:c.1990T>G ENSP00000361302.3:p.Tyr664Asp
ENST00000402686.7:c.1924T>G ENSP00000385797.3:p.Tyr642Asp
ENST00000404875.6:c.1573T>G ENSP00000384531.2:p.Tyr525Asp
ENST00000423007.5:c.1924T>G ENSP00000404119.1:p.Tyr642Asp
ENST00000485278.5:n.2474T>G
ENST00000494883.1:n.467T>G
NM_001077365.1:c.1924T>G NP_001070833.1:p.Tyr642Asp
NM_001077366.1:c.1762T>G NP_001070834.1:p.Tyr588Asp
NM_001136113.1:c.1924T>G NP_001129585.1:p.Tyr642Asp
NM_001136114.1:c.1573T>G NP_001129586.1:p.Tyr525Asp
NM_007171.3:c.1990T>G NP_009102.3:p.Tyr664Asp
XM_005272156.1:c.1990T>G XP_005272213.1:p.Tyr664Asp
XM_005272158.1:c.1828T>G XP_005272215.1:p.Tyr610Asp
XM_005272159.1:c.1639T>G XP_005272216.1:p.Tyr547Asp
XM_005272162.1:c.793T>G XP_005272219.1:p.Tyr265Asp
XM_006716932.1:c.1639T>G XP_006716995.1:p.Tyr547Asp
XM_011518140.1:c.1843T>G XP_011516442.1:p.Tyr615Asp
XM_011518141.1:c.1777T>G XP_011516443.1:p.Tyr593Asp
XM_011518142.1:c.1681T>G XP_011516444.1:p.Tyr561Asp
XM_011518143.1:c.1675T>G XP_011516445.1:p.Tyr559Asp
XM_011518145.1:c.1534T>G XP_011516447.1:p.Tyr512Asp
XM_011518147.1:c.862T>G XP_011516449.1:p.Tyr288Asp
XR_929703.1:n.2166T>G
NM_001353193.1:c.1990T>G NP_001340122.1:p.Tyr664Asp
NM_001353194.1:c.1762T>G NP_001340123.1:p.Tyr588Asp
NM_001353195.1:c.1573T>G NP_001340124.1:p.Tyr525Asp
NM_001353196.1:c.1834T>G NP_001340125.1:p.Tyr612Asp
NM_001353197.1:c.1828T>G NP_001340126.1:p.Tyr610Asp
NM_001353198.1:c.1828T>G NP_001340127.1:p.Tyr610Asp
NM_001353199.1:c.1639T>G NP_001340128.1:p.Tyr547Asp
NM_001353200.1:c.1468T>G NP_001340129.1:p.Tyr490Asp
NR_148391.1:n.1974T>G
NR_148392.1:n.2192T>G
NR_148393.1:n.2113T>G
NR_148394.1:n.1867T>G
NR_148395.1:n.2265T>G
NR_148396.1:n.1899T>G
NR_148397.1:n.2024T>G
NR_148398.1:n.1979T>G
NR_148399.1:n.2505T>G
NR_148400.1:n.2104T>G
XM_005272162.3:c.793T>G XP_005272219.1:p.Tyr265Asp
XM_006716932.2:c.1639T>G XP_006716995.1:p.Tyr547Asp
XM_011518140.2:c.1843T>G XP_011516442.1:p.Tyr615Asp
XM_011518141.2:c.1777T>G XP_011516443.1:p.Tyr593Asp
XM_011518142.2:c.1681T>G XP_011516444.1:p.Tyr561Asp
XM_011518143.2:c.1675T>G XP_011516445.1:p.Tyr559Asp
XM_011518145.2:c.1534T>G XP_011516447.1:p.Tyr512Asp
XM_017014205.2:c.793T>G XP_016869694.1:p.Tyr265Asp
XM_024447380.1:c.793T>G XP_024303148.1:p.Tyr265Asp
XM_024447381.1:c.1099T>G XP_024303149.1:p.Tyr367Asp
XM_024447382.1:c.793T>G XP_024303150.1:p.Tyr265Asp
XR_001746160.2:n.2094T>G
XR_001746162.2:n.2299T>G
XR_001746164.1:n.2016T>G
XR_001746166.2:n.2311T>G
NM_001077365.2:c.1924T>G MANE Select NP_001070833.1:p.Tyr642Asp
NM_001077366.2:c.1762T>G NP_001070834.1:p.Tyr588Asp
NM_001136113.2:c.1924T>G NP_001129585.1:p.Tyr642Asp
NM_001136114.2:c.1573T>G NP_001129586.1:p.Tyr525Asp
NM_001353193.2:c.1990T>G NP_001340122.2:p.Tyr664Asp
NM_001353194.2:c.1762T>G NP_001340123.1:p.Tyr588Asp
NM_001353195.2:c.1573T>G NP_001340124.1:p.Tyr525Asp
NM_001353196.2:c.1834T>G NP_001340125.1:p.Tyr612Asp
NM_001353197.2:c.1828T>G NP_001340126.2:p.Tyr610Asp
NM_001353198.2:c.1828T>G NP_001340127.2:p.Tyr610Asp
NM_001353199.2:c.1639T>G NP_001340128.2:p.Tyr547Asp
NM_001353200.2:c.1468T>G NP_001340129.1:p.Tyr490Asp
NM_001374689.1:c.1912T>G NP_001361618.1:p.Tyr638Asp
NM_001374690.1:c.1705T>G NP_001361619.1:p.Tyr569Asp
NM_001374691.1:c.1573T>G NP_001361620.1:p.Tyr525Asp
NM_001374692.1:c.1573T>G NP_001361621.1:p.Tyr525Asp
NM_001374693.1:c.1573T>G NP_001361622.1:p.Tyr525Asp
NM_001374695.1:c.1534T>G NP_001361624.1:p.Tyr512Asp
NM_007171.4:c.1990T>G NP_009102.4:p.Tyr664Asp
NR_148391.2:n.1958T>G
NR_148392.2:n.2176T>G
NR_148393.2:n.2097T>G
NR_148394.2:n.1851T>G
NR_148395.2:n.2249T>G
NR_148396.2:n.1883T>G
NR_148397.2:n.2008T>G
NR_148398.2:n.1963T>G
NR_148399.2:n.2489T>G
NR_148400.2:n.2088T>G