Canonical Allele Identifier: CA375314488
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522148C>G , CM000671.2:g.131522148C>G GRCh38
NC_000009.11:g.134397535C>G , CM000671.1:g.134397535C>G GRCh37
NC_000009.10:g.133387356C>G NCBI36
NG_008896.1:g.24247C>G
NG_008896.2:g.24247C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1765C>G ENSP00000343034.7:p.His589Asp
ENST00000404875.7:n.2467C>G
ENST00000423007.6:c.1984C>G ENSP00000404119.2:p.His662Asp
ENST00000677295.2:c.*2271C>G ENSP00000504346.2:n.*2271C>G
ENST00000678264.2:c.*2110C>G ENSP00000503157.2:n.*2110C>G
ENST00000682070.1:n.2291-54C>G
ENST00000682813.1:n.2331C>G
ENST00000683392.1:n.4573-54C>G
ENST00000683712.1:n.2332C>G
ENST00000683900.1:n.3827C>G
ENST00000684062.1:n.2593C>G
ENST00000684579.1:n.3773C>G
ENST00000684679.1:n.1154C>G
ENST00000341012.12:c.1765C>G ENSP00000343034.7:p.His589Asp
ENST00000372220.5:c.796C>G ENSP00000361294.5:p.His266Asp
ENST00000372228.9:c.1993C>G ENSP00000361302.3:p.His665Asp
ENST00000402686.8:c.1927C>G MANE Select ENSP00000385797.4:p.His643Asp
ENST00000676640.1:c.1927C>G ENSP00000503281.1:p.His643Asp
ENST00000676803.1:c.988C>G ENSP00000503093.1:p.His330Asp
ENST00000676835.1:c.*1142C>G ENSP00000502911.1:n.*1142C>G
ENST00000677029.1:c.1471C>G ENSP00000502936.1:p.His491Asp
ENST00000677099.1:c.*1637C>G ENSP00000504553.1:n.*1637C>G
ENST00000677216.1:c.1576C>G ENSP00000503772.1:p.His526Asp
ENST00000677221.1:n.952C>G
ENST00000677295.1:c.*1203-54C>G ENSP00000504346.1:n.*1203-54C>G
ENST00000677444.1:c.1872C>G
ENST00000677586.1:n.1294C>G
ENST00000677626.1:c.1576C>G ENSP00000503552.1:p.His526Asp
ENST00000677853.1:c.*935C>G ENSP00000503488.1:n.*935C>G
ENST00000678202.1:n.1086C>G
ENST00000678264.1:c.*1304C>G ENSP00000503157.1:n.*1304C>G
ENST00000678303.1:c.1837C>G ENSP00000503696.1:p.His613Asp
ENST00000678366.1:c.*2176C>G ENSP00000504353.1:n.*2176C>G
ENST00000678546.1:c.*1872C>G ENSP00000503062.1:n.*1872C>G
ENST00000678548.1:c.*2066C>G ENSP00000503934.1:n.*2066C>G
ENST00000678626.1:n.1763C>G
ENST00000678739.1:c.*2147-54C>G ENSP00000503806.1:n.*2147-54C>G
ENST00000678833.1:c.*1679C>G ENSP00000503893.1:n.*1679C>G
ENST00000679023.1:c.1765C>G ENSP00000503718.1:p.His589Asp
ENST00000679076.1:c.1546C>G
ENST00000679111.1:c.*683C>G ENSP00000504257.1:n.*683C>G
ENST00000679189.1:c.1576C>G ENSP00000503356.1:p.His526Asp
ENST00000341012.11:c.1765C>G ENSP00000343034.7:p.His589Asp
ENST00000372220.4:c.790C>G ENSP00000361294.4:p.His264Asp
ENST00000372228.7:c.1993C>G ENSP00000361302.3:p.His665Asp
ENST00000402686.7:c.1927C>G ENSP00000385797.3:p.His643Asp
ENST00000404875.6:c.1576C>G ENSP00000384531.2:p.His526Asp
ENST00000423007.5:c.1927C>G ENSP00000404119.1:p.His643Asp
ENST00000485278.5:n.2477C>G
ENST00000494883.1:n.470C>G
NM_001077365.1:c.1927C>G NP_001070833.1:p.His643Asp
NM_001077366.1:c.1765C>G NP_001070834.1:p.His589Asp
NM_001136113.1:c.1927C>G NP_001129585.1:p.His643Asp
NM_001136114.1:c.1576C>G NP_001129586.1:p.His526Asp
NM_007171.3:c.1993C>G NP_009102.3:p.His665Asp
XM_005272156.1:c.1993C>G XP_005272213.1:p.His665Asp
XM_005272158.1:c.1831C>G XP_005272215.1:p.His611Asp
XM_005272159.1:c.1642C>G XP_005272216.1:p.His548Asp
XM_005272162.1:c.796C>G XP_005272219.1:p.His266Asp
XM_006716932.1:c.1642C>G XP_006716995.1:p.His548Asp
XM_011518140.1:c.1846C>G XP_011516442.1:p.His616Asp
XM_011518141.1:c.1780C>G XP_011516443.1:p.His594Asp
XM_011518142.1:c.1684C>G XP_011516444.1:p.His562Asp
XM_011518143.1:c.1678C>G XP_011516445.1:p.His560Asp
XM_011518145.1:c.1537C>G XP_011516447.1:p.His513Asp
XM_011518147.1:c.865C>G XP_011516449.1:p.His289Asp
XR_929703.1:n.2169C>G
NM_001353193.1:c.1993C>G NP_001340122.1:p.His665Asp
NM_001353194.1:c.1765C>G NP_001340123.1:p.His589Asp
NM_001353195.1:c.1576C>G NP_001340124.1:p.His526Asp
NM_001353196.1:c.1837C>G NP_001340125.1:p.His613Asp
NM_001353197.1:c.1831C>G NP_001340126.1:p.His611Asp
NM_001353198.1:c.1831C>G NP_001340127.1:p.His611Asp
NM_001353199.1:c.1642C>G NP_001340128.1:p.His548Asp
NM_001353200.1:c.1471C>G NP_001340129.1:p.His491Asp
NR_148391.1:n.1977C>G
NR_148392.1:n.2195C>G
NR_148393.1:n.2116C>G
NR_148394.1:n.1870C>G
NR_148395.1:n.2268C>G
NR_148396.1:n.1902C>G
NR_148397.1:n.2027C>G
NR_148398.1:n.1982C>G
NR_148399.1:n.2508C>G
NR_148400.1:n.2107C>G
XM_005272162.3:c.796C>G XP_005272219.1:p.His266Asp
XM_006716932.2:c.1642C>G XP_006716995.1:p.His548Asp
XM_011518140.2:c.1846C>G XP_011516442.1:p.His616Asp
XM_011518141.2:c.1780C>G XP_011516443.1:p.His594Asp
XM_011518142.2:c.1684C>G XP_011516444.1:p.His562Asp
XM_011518143.2:c.1678C>G XP_011516445.1:p.His560Asp
XM_011518145.2:c.1537C>G XP_011516447.1:p.His513Asp
XM_017014205.2:c.796C>G XP_016869694.1:p.His266Asp
XM_024447380.1:c.796C>G XP_024303148.1:p.His266Asp
XM_024447381.1:c.1102C>G XP_024303149.1:p.His368Asp
XM_024447382.1:c.796C>G XP_024303150.1:p.His266Asp
XR_001746160.2:n.2097C>G
XR_001746162.2:n.2302C>G
XR_001746164.1:n.2019C>G
XR_001746166.2:n.2314C>G
NM_001077365.2:c.1927C>G MANE Select NP_001070833.1:p.His643Asp
NM_001077366.2:c.1765C>G NP_001070834.1:p.His589Asp
NM_001136113.2:c.1927C>G NP_001129585.1:p.His643Asp
NM_001136114.2:c.1576C>G NP_001129586.1:p.His526Asp
NM_001353193.2:c.1993C>G NP_001340122.2:p.His665Asp
NM_001353194.2:c.1765C>G NP_001340123.1:p.His589Asp
NM_001353195.2:c.1576C>G NP_001340124.1:p.His526Asp
NM_001353196.2:c.1837C>G NP_001340125.1:p.His613Asp
NM_001353197.2:c.1831C>G NP_001340126.2:p.His611Asp
NM_001353198.2:c.1831C>G NP_001340127.2:p.His611Asp
NM_001353199.2:c.1642C>G NP_001340128.2:p.His548Asp
NM_001353200.2:c.1471C>G NP_001340129.1:p.His491Asp
NM_001374689.1:c.1915C>G NP_001361618.1:p.His639Asp
NM_001374690.1:c.1708C>G NP_001361619.1:p.His570Asp
NM_001374691.1:c.1576C>G NP_001361620.1:p.His526Asp
NM_001374692.1:c.1576C>G NP_001361621.1:p.His526Asp
NM_001374693.1:c.1576C>G NP_001361622.1:p.His526Asp
NM_001374695.1:c.1537C>G NP_001361624.1:p.His513Asp
NM_007171.4:c.1993C>G NP_009102.4:p.His665Asp
NR_148391.2:n.1961C>G
NR_148392.2:n.2179C>G
NR_148393.2:n.2100C>G
NR_148394.2:n.1854C>G
NR_148395.2:n.2252C>G
NR_148396.2:n.1886C>G
NR_148397.2:n.2011C>G
NR_148398.2:n.1966C>G
NR_148399.2:n.2492C>G
NR_148400.2:n.2091C>G