Canonical Allele Identifier: CA375315158
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523002A>G , CM000671.2:g.131523002A>G GRCh38
NC_000009.11:g.134398389A>G , CM000671.1:g.134398389A>G GRCh37
NC_000009.10:g.133388210A>G NCBI36
NG_008896.1:g.25101A>G
NG_008896.2:g.25101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1912A>G ENSP00000343034.7:p.Asn638Asp
ENST00000404875.7:n.2614A>G
ENST00000423007.6:c.2131A>G ENSP00000404119.2:p.Asn711Asp
ENST00000677295.2:c.*2418A>G ENSP00000504346.2:n.*2418A>G
ENST00000678264.2:c.*2257A>G ENSP00000503157.2:n.*2257A>G
ENST00000682070.1:n.2384A>G
ENST00000682639.1:c.71A>G
ENST00000682813.1:n.2471A>G
ENST00000683231.1:c.71A>G
ENST00000683392.1:n.4666A>G
ENST00000683712.1:n.2479A>G
ENST00000683900.1:n.3974A>G
ENST00000684062.1:n.2740A>G
ENST00000684399.1:c.71A>G
ENST00000684579.1:n.3920A>G
ENST00000341012.12:c.1912A>G ENSP00000343034.7:p.Asn638Asp
ENST00000372220.5:c.943A>G ENSP00000361294.5:p.Asn315Asp
ENST00000372228.9:c.2140A>G ENSP00000361302.3:p.Asn714Asp
ENST00000402686.8:c.2074A>G MANE Select ENSP00000385797.4:p.Asn692Asp
ENST00000676640.1:c.2074A>G ENSP00000503281.1:p.Asn692Asp
ENST00000676803.1:c.1135A>G ENSP00000503093.1:p.Asn379Asp
ENST00000676835.1:c.*1289A>G ENSP00000502911.1:n.*1289A>G
ENST00000677029.1:c.1618A>G ENSP00000502936.1:p.Asn540Asp
ENST00000677099.1:c.*1784A>G ENSP00000504553.1:n.*1784A>G
ENST00000677216.1:c.1723A>G ENSP00000503772.1:p.Asn575Asp
ENST00000677221.1:n.1099A>G
ENST00000677295.1:c.*1296A>G ENSP00000504346.1:n.*1296A>G
ENST00000677444.1:c.2019A>G
ENST00000677586.1:n.1441A>G
ENST00000677626.1:c.1723A>G ENSP00000503552.1:p.Asn575Asp
ENST00000677853.1:c.*1082A>G ENSP00000503488.1:n.*1082A>G
ENST00000678264.1:c.*1451A>G ENSP00000503157.1:n.*1451A>G
ENST00000678303.1:c.1984A>G ENSP00000503696.1:p.Asn662Asp
ENST00000678366.1:c.*2323A>G ENSP00000504353.1:n.*2323A>G
ENST00000678546.1:c.*2019A>G ENSP00000503062.1:n.*2019A>G
ENST00000678548.1:c.*2213A>G ENSP00000503934.1:n.*2213A>G
ENST00000678626.1:n.1910A>G
ENST00000678739.1:c.*2240A>G ENSP00000503806.1:n.*2240A>G
ENST00000678833.1:c.*1826A>G ENSP00000503893.1:n.*1826A>G
ENST00000679023.1:c.1912A>G ENSP00000503718.1:p.Asn638Asp
ENST00000679076.1:c.1693A>G
ENST00000679111.1:c.*830A>G ENSP00000504257.1:n.*830A>G
ENST00000679189.1:c.1723A>G ENSP00000503356.1:p.Asn575Asp
ENST00000341012.11:c.1912A>G ENSP00000343034.7:p.Asn638Asp
ENST00000372220.4:c.937A>G ENSP00000361294.4:p.Asn313Asp
ENST00000372228.7:c.2140A>G ENSP00000361302.3:p.Asn714Asp
ENST00000402686.7:c.2074A>G ENSP00000385797.3:p.Asn692Asp
ENST00000404875.6:c.1723A>G ENSP00000384531.2:p.Asn575Asp
ENST00000423007.5:c.2074A>G ENSP00000404119.1:p.Asn692Asp
ENST00000485278.5:n.2624A>G
NM_001077365.1:c.2074A>G NP_001070833.1:p.Asn692Asp
NM_001077366.1:c.1912A>G NP_001070834.1:p.Asn638Asp
NM_001136113.1:c.2074A>G NP_001129585.1:p.Asn692Asp
NM_001136114.1:c.1723A>G NP_001129586.1:p.Asn575Asp
NM_007171.3:c.2140A>G NP_009102.3:p.Asn714Asp
XM_005272156.1:c.2140A>G XP_005272213.1:p.Asn714Asp
XM_005272158.1:c.1978A>G XP_005272215.1:p.Asn660Asp
XM_005272159.1:c.1789A>G XP_005272216.1:p.Asn597Asp
XM_005272162.1:c.943A>G XP_005272219.1:p.Asn315Asp
XM_006716932.1:c.1789A>G XP_006716995.1:p.Asn597Asp
XM_011518140.1:c.1993A>G XP_011516442.1:p.Asn665Asp
XM_011518141.1:c.1927A>G XP_011516443.1:p.Asn643Asp
XM_011518142.1:c.1831A>G XP_011516444.1:p.Asn611Asp
XM_011518143.1:c.1825A>G XP_011516445.1:p.Asn609Asp
XM_011518145.1:c.1684A>G XP_011516447.1:p.Asn562Asp
XM_011518147.1:c.1012A>G XP_011516449.1:p.Asn338Asp
XR_929703.1:n.2316A>G
NM_001353193.1:c.2140A>G NP_001340122.1:p.Asn714Asp
NM_001353194.1:c.1912A>G NP_001340123.1:p.Asn638Asp
NM_001353195.1:c.1723A>G NP_001340124.1:p.Asn575Asp
NM_001353196.1:c.1984A>G NP_001340125.1:p.Asn662Asp
NM_001353197.1:c.1978A>G NP_001340126.1:p.Asn660Asp
NM_001353198.1:c.1978A>G NP_001340127.1:p.Asn660Asp
NM_001353199.1:c.1789A>G NP_001340128.1:p.Asn597Asp
NM_001353200.1:c.1618A>G NP_001340129.1:p.Asn540Asp
NR_148391.1:n.2124A>G
NR_148392.1:n.2342A>G
NR_148393.1:n.2263A>G
NR_148394.1:n.2017A>G
NR_148395.1:n.2415A>G
NR_148396.1:n.2049A>G
NR_148397.1:n.2174A>G
NR_148398.1:n.2129A>G
NR_148399.1:n.2655A>G
NR_148400.1:n.2254A>G
XM_005272162.3:c.943A>G XP_005272219.1:p.Asn315Asp
XM_006716932.2:c.1789A>G XP_006716995.1:p.Asn597Asp
XM_011518140.2:c.1993A>G XP_011516442.1:p.Asn665Asp
XM_011518141.2:c.1927A>G XP_011516443.1:p.Asn643Asp
XM_011518142.2:c.1831A>G XP_011516444.1:p.Asn611Asp
XM_011518143.2:c.1825A>G XP_011516445.1:p.Asn609Asp
XM_011518145.2:c.1684A>G XP_011516447.1:p.Asn562Asp
XM_017014205.2:c.943A>G XP_016869694.1:p.Asn315Asp
XM_024447380.1:c.943A>G XP_024303148.1:p.Asn315Asp
XM_024447381.1:c.1249A>G XP_024303149.1:p.Asn417Asp
XM_024447382.1:c.943A>G XP_024303150.1:p.Asn315Asp
XR_001746160.2:n.2244A>G
XR_001746162.2:n.2449A>G
XR_001746164.1:n.2166A>G
XR_001746166.2:n.2461A>G
NM_001077365.2:c.2074A>G MANE Select NP_001070833.1:p.Asn692Asp
NM_001077366.2:c.1912A>G NP_001070834.1:p.Asn638Asp
NM_001136113.2:c.2074A>G NP_001129585.1:p.Asn692Asp
NM_001136114.2:c.1723A>G NP_001129586.1:p.Asn575Asp
NM_001353193.2:c.2140A>G NP_001340122.2:p.Asn714Asp
NM_001353194.2:c.1912A>G NP_001340123.1:p.Asn638Asp
NM_001353195.2:c.1723A>G NP_001340124.1:p.Asn575Asp
NM_001353196.2:c.1984A>G NP_001340125.1:p.Asn662Asp
NM_001353197.2:c.1978A>G NP_001340126.2:p.Asn660Asp
NM_001353198.2:c.1978A>G NP_001340127.2:p.Asn660Asp
NM_001353199.2:c.1789A>G NP_001340128.2:p.Asn597Asp
NM_001353200.2:c.1618A>G NP_001340129.1:p.Asn540Asp
NM_001374689.1:c.2062A>G NP_001361618.1:p.Asn688Asp
NM_001374690.1:c.1855A>G NP_001361619.1:p.Asn619Asp
NM_001374691.1:c.1723A>G NP_001361620.1:p.Asn575Asp
NM_001374692.1:c.1723A>G NP_001361621.1:p.Asn575Asp
NM_001374693.1:c.1723A>G NP_001361622.1:p.Asn575Asp
NM_001374695.1:c.1684A>G NP_001361624.1:p.Asn562Asp
NM_007171.4:c.2140A>G NP_009102.4:p.Asn714Asp
NR_148391.2:n.2108A>G
NR_148392.2:n.2326A>G
NR_148393.2:n.2247A>G
NR_148394.2:n.2001A>G
NR_148395.2:n.2399A>G
NR_148396.2:n.2033A>G
NR_148397.2:n.2158A>G
NR_148398.2:n.2113A>G
NR_148399.2:n.2639A>G
NR_148400.2:n.2238A>G