Canonical Allele Identifier: CA375314976
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522955T>G , CM000671.2:g.131522955T>G GRCh38
NC_000009.11:g.134398342T>G , CM000671.1:g.134398342T>G GRCh37
NC_000009.10:g.133388163T>G NCBI36
NG_008896.1:g.25054T>G
NG_008896.2:g.25054T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1865T>G ENSP00000343034.7:p.Phe622Cys
ENST00000404875.7:n.2567T>G
ENST00000423007.6:c.2084T>G ENSP00000404119.2:p.Phe695Cys
ENST00000677295.2:c.*2371T>G ENSP00000504346.2:n.*2371T>G
ENST00000678264.2:c.*2210T>G ENSP00000503157.2:n.*2210T>G
ENST00000682070.1:n.2337T>G
ENST00000682639.1:c.24T>G
ENST00000682813.1:n.2424T>G
ENST00000683231.1:c.24T>G
ENST00000683392.1:n.4619T>G
ENST00000683712.1:n.2432T>G
ENST00000683900.1:n.3927T>G
ENST00000684062.1:n.2693T>G
ENST00000684399.1:c.24T>G
ENST00000684579.1:n.3873T>G
ENST00000341012.12:c.1865T>G ENSP00000343034.7:p.Phe622Cys
ENST00000372220.5:c.896T>G ENSP00000361294.5:p.Phe299Cys
ENST00000372228.9:c.2093T>G ENSP00000361302.3:p.Phe698Cys
ENST00000402686.8:c.2027T>G MANE Select ENSP00000385797.4:p.Phe676Cys
ENST00000676640.1:c.2027T>G ENSP00000503281.1:p.Phe676Cys
ENST00000676803.1:c.1088T>G ENSP00000503093.1:p.Phe363Cys
ENST00000676835.1:c.*1242T>G ENSP00000502911.1:n.*1242T>G
ENST00000677029.1:c.1571T>G ENSP00000502936.1:p.Phe524Cys
ENST00000677099.1:c.*1737T>G ENSP00000504553.1:n.*1737T>G
ENST00000677216.1:c.1676T>G ENSP00000503772.1:p.Phe559Cys
ENST00000677221.1:n.1052T>G
ENST00000677295.1:c.*1249T>G ENSP00000504346.1:n.*1249T>G
ENST00000677444.1:c.1972T>G
ENST00000677586.1:n.1394T>G
ENST00000677626.1:c.1676T>G ENSP00000503552.1:p.Phe559Cys
ENST00000677853.1:c.*1035T>G ENSP00000503488.1:n.*1035T>G
ENST00000678264.1:c.*1404T>G ENSP00000503157.1:n.*1404T>G
ENST00000678303.1:c.1937T>G ENSP00000503696.1:p.Phe646Cys
ENST00000678366.1:c.*2276T>G ENSP00000504353.1:n.*2276T>G
ENST00000678546.1:c.*1972T>G ENSP00000503062.1:n.*1972T>G
ENST00000678548.1:c.*2166T>G ENSP00000503934.1:n.*2166T>G
ENST00000678626.1:n.1863T>G
ENST00000678739.1:c.*2193T>G ENSP00000503806.1:n.*2193T>G
ENST00000678833.1:c.*1779T>G ENSP00000503893.1:n.*1779T>G
ENST00000679023.1:c.1865T>G ENSP00000503718.1:p.Phe622Cys
ENST00000679076.1:c.1646T>G
ENST00000679111.1:c.*783T>G ENSP00000504257.1:n.*783T>G
ENST00000679189.1:c.1676T>G ENSP00000503356.1:p.Phe559Cys
ENST00000341012.11:c.1865T>G ENSP00000343034.7:p.Phe622Cys
ENST00000372220.4:c.890T>G ENSP00000361294.4:p.Phe297Cys
ENST00000372228.7:c.2093T>G ENSP00000361302.3:p.Phe698Cys
ENST00000402686.7:c.2027T>G ENSP00000385797.3:p.Phe676Cys
ENST00000404875.6:c.1676T>G ENSP00000384531.2:p.Phe559Cys
ENST00000423007.5:c.2027T>G ENSP00000404119.1:p.Phe676Cys
ENST00000485278.5:n.2577T>G
NM_001077365.1:c.2027T>G NP_001070833.1:p.Phe676Cys
NM_001077366.1:c.1865T>G NP_001070834.1:p.Phe622Cys
NM_001136113.1:c.2027T>G NP_001129585.1:p.Phe676Cys
NM_001136114.1:c.1676T>G NP_001129586.1:p.Phe559Cys
NM_007171.3:c.2093T>G NP_009102.3:p.Phe698Cys
XM_005272156.1:c.2093T>G XP_005272213.1:p.Phe698Cys
XM_005272158.1:c.1931T>G XP_005272215.1:p.Phe644Cys
XM_005272159.1:c.1742T>G XP_005272216.1:p.Phe581Cys
XM_005272162.1:c.896T>G XP_005272219.1:p.Phe299Cys
XM_006716932.1:c.1742T>G XP_006716995.1:p.Phe581Cys
XM_011518140.1:c.1946T>G XP_011516442.1:p.Phe649Cys
XM_011518141.1:c.1880T>G XP_011516443.1:p.Phe627Cys
XM_011518142.1:c.1784T>G XP_011516444.1:p.Phe595Cys
XM_011518143.1:c.1778T>G XP_011516445.1:p.Phe593Cys
XM_011518145.1:c.1637T>G XP_011516447.1:p.Phe546Cys
XM_011518147.1:c.965T>G XP_011516449.1:p.Phe322Cys
XR_929703.1:n.2269T>G
NM_001353193.1:c.2093T>G NP_001340122.1:p.Phe698Cys
NM_001353194.1:c.1865T>G NP_001340123.1:p.Phe622Cys
NM_001353195.1:c.1676T>G NP_001340124.1:p.Phe559Cys
NM_001353196.1:c.1937T>G NP_001340125.1:p.Phe646Cys
NM_001353197.1:c.1931T>G NP_001340126.1:p.Phe644Cys
NM_001353198.1:c.1931T>G NP_001340127.1:p.Phe644Cys
NM_001353199.1:c.1742T>G NP_001340128.1:p.Phe581Cys
NM_001353200.1:c.1571T>G NP_001340129.1:p.Phe524Cys
NR_148391.1:n.2077T>G
NR_148392.1:n.2295T>G
NR_148393.1:n.2216T>G
NR_148394.1:n.1970T>G
NR_148395.1:n.2368T>G
NR_148396.1:n.2002T>G
NR_148397.1:n.2127T>G
NR_148398.1:n.2082T>G
NR_148399.1:n.2608T>G
NR_148400.1:n.2207T>G
XM_005272162.3:c.896T>G XP_005272219.1:p.Phe299Cys
XM_006716932.2:c.1742T>G XP_006716995.1:p.Phe581Cys
XM_011518140.2:c.1946T>G XP_011516442.1:p.Phe649Cys
XM_011518141.2:c.1880T>G XP_011516443.1:p.Phe627Cys
XM_011518142.2:c.1784T>G XP_011516444.1:p.Phe595Cys
XM_011518143.2:c.1778T>G XP_011516445.1:p.Phe593Cys
XM_011518145.2:c.1637T>G XP_011516447.1:p.Phe546Cys
XM_017014205.2:c.896T>G XP_016869694.1:p.Phe299Cys
XM_024447380.1:c.896T>G XP_024303148.1:p.Phe299Cys
XM_024447381.1:c.1202T>G XP_024303149.1:p.Phe401Cys
XM_024447382.1:c.896T>G XP_024303150.1:p.Phe299Cys
XR_001746160.2:n.2197T>G
XR_001746162.2:n.2402T>G
XR_001746164.1:n.2119T>G
XR_001746166.2:n.2414T>G
NM_001077365.2:c.2027T>G MANE Select NP_001070833.1:p.Phe676Cys
NM_001077366.2:c.1865T>G NP_001070834.1:p.Phe622Cys
NM_001136113.2:c.2027T>G NP_001129585.1:p.Phe676Cys
NM_001136114.2:c.1676T>G NP_001129586.1:p.Phe559Cys
NM_001353193.2:c.2093T>G NP_001340122.2:p.Phe698Cys
NM_001353194.2:c.1865T>G NP_001340123.1:p.Phe622Cys
NM_001353195.2:c.1676T>G NP_001340124.1:p.Phe559Cys
NM_001353196.2:c.1937T>G NP_001340125.1:p.Phe646Cys
NM_001353197.2:c.1931T>G NP_001340126.2:p.Phe644Cys
NM_001353198.2:c.1931T>G NP_001340127.2:p.Phe644Cys
NM_001353199.2:c.1742T>G NP_001340128.2:p.Phe581Cys
NM_001353200.2:c.1571T>G NP_001340129.1:p.Phe524Cys
NM_001374689.1:c.2015T>G NP_001361618.1:p.Phe672Cys
NM_001374690.1:c.1808T>G NP_001361619.1:p.Phe603Cys
NM_001374691.1:c.1676T>G NP_001361620.1:p.Phe559Cys
NM_001374692.1:c.1676T>G NP_001361621.1:p.Phe559Cys
NM_001374693.1:c.1676T>G NP_001361622.1:p.Phe559Cys
NM_001374695.1:c.1637T>G NP_001361624.1:p.Phe546Cys
NM_007171.4:c.2093T>G NP_009102.4:p.Phe698Cys
NR_148391.2:n.2061T>G
NR_148392.2:n.2279T>G
NR_148393.2:n.2200T>G
NR_148394.2:n.1954T>G
NR_148395.2:n.2352T>G
NR_148396.2:n.1986T>G
NR_148397.2:n.2111T>G
NR_148398.2:n.2066T>G
NR_148399.2:n.2592T>G
NR_148400.2:n.2191T>G