Canonical Allele Identifier: CA375315175
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523005A>T , CM000671.2:g.131523005A>T GRCh38
NC_000009.11:g.134398392A>T , CM000671.1:g.134398392A>T GRCh37
NC_000009.10:g.133388213A>T NCBI36
NG_008896.1:g.25104A>T
NG_008896.2:g.25104A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1915A>T ENSP00000343034.7:p.Thr639Ser
ENST00000404875.7:n.2617A>T
ENST00000423007.6:c.2134A>T ENSP00000404119.2:p.Thr712Ser
ENST00000677295.2:c.*2421A>T ENSP00000504346.2:n.*2421A>T
ENST00000678264.2:c.*2260A>T ENSP00000503157.2:n.*2260A>T
ENST00000682070.1:n.2387A>T
ENST00000682639.1:c.74A>T
ENST00000682813.1:n.2474A>T
ENST00000683231.1:c.74A>T
ENST00000683392.1:n.4669A>T
ENST00000683712.1:n.2482A>T
ENST00000683900.1:n.3977A>T
ENST00000684062.1:n.2743A>T
ENST00000684399.1:c.74A>T
ENST00000684579.1:n.3923A>T
ENST00000341012.12:c.1915A>T ENSP00000343034.7:p.Thr639Ser
ENST00000372220.5:c.946A>T ENSP00000361294.5:p.Thr316Ser
ENST00000372228.9:c.2143A>T ENSP00000361302.3:p.Thr715Ser
ENST00000402686.8:c.2077A>T MANE Select ENSP00000385797.4:p.Thr693Ser
ENST00000676640.1:c.2077A>T ENSP00000503281.1:p.Thr693Ser
ENST00000676803.1:c.1138A>T ENSP00000503093.1:p.Thr380Ser
ENST00000676835.1:c.*1292A>T ENSP00000502911.1:n.*1292A>T
ENST00000677029.1:c.1621A>T ENSP00000502936.1:p.Thr541Ser
ENST00000677099.1:c.*1787A>T ENSP00000504553.1:n.*1787A>T
ENST00000677216.1:c.1726A>T ENSP00000503772.1:p.Thr576Ser
ENST00000677221.1:n.1102A>T
ENST00000677295.1:c.*1299A>T ENSP00000504346.1:n.*1299A>T
ENST00000677444.1:c.2022A>T
ENST00000677586.1:n.1444A>T
ENST00000677626.1:c.1726A>T ENSP00000503552.1:p.Thr576Ser
ENST00000677853.1:c.*1085A>T ENSP00000503488.1:n.*1085A>T
ENST00000678264.1:c.*1454A>T ENSP00000503157.1:n.*1454A>T
ENST00000678303.1:c.1987A>T ENSP00000503696.1:p.Thr663Ser
ENST00000678366.1:c.*2326A>T ENSP00000504353.1:n.*2326A>T
ENST00000678546.1:c.*2022A>T ENSP00000503062.1:n.*2022A>T
ENST00000678548.1:c.*2216A>T ENSP00000503934.1:n.*2216A>T
ENST00000678626.1:n.1913A>T
ENST00000678739.1:c.*2243A>T ENSP00000503806.1:n.*2243A>T
ENST00000678833.1:c.*1829A>T ENSP00000503893.1:n.*1829A>T
ENST00000679023.1:c.1915A>T ENSP00000503718.1:p.Thr639Ser
ENST00000679076.1:c.1696A>T
ENST00000679111.1:c.*833A>T ENSP00000504257.1:n.*833A>T
ENST00000679189.1:c.1726A>T ENSP00000503356.1:p.Thr576Ser
ENST00000341012.11:c.1915A>T ENSP00000343034.7:p.Thr639Ser
ENST00000372220.4:c.940A>T ENSP00000361294.4:p.Thr314Ser
ENST00000372228.7:c.2143A>T ENSP00000361302.3:p.Thr715Ser
ENST00000402686.7:c.2077A>T ENSP00000385797.3:p.Thr693Ser
ENST00000404875.6:c.1726A>T ENSP00000384531.2:p.Thr576Ser
ENST00000423007.5:c.2077A>T ENSP00000404119.1:p.Thr693Ser
ENST00000485278.5:n.2627A>T
NM_001077365.1:c.2077A>T NP_001070833.1:p.Thr693Ser
NM_001077366.1:c.1915A>T NP_001070834.1:p.Thr639Ser
NM_001136113.1:c.2077A>T NP_001129585.1:p.Thr693Ser
NM_001136114.1:c.1726A>T NP_001129586.1:p.Thr576Ser
NM_007171.3:c.2143A>T NP_009102.3:p.Thr715Ser
XM_005272156.1:c.2143A>T XP_005272213.1:p.Thr715Ser
XM_005272158.1:c.1981A>T XP_005272215.1:p.Thr661Ser
XM_005272159.1:c.1792A>T XP_005272216.1:p.Thr598Ser
XM_005272162.1:c.946A>T XP_005272219.1:p.Thr316Ser
XM_006716932.1:c.1792A>T XP_006716995.1:p.Thr598Ser
XM_011518140.1:c.1996A>T XP_011516442.1:p.Thr666Ser
XM_011518141.1:c.1930A>T XP_011516443.1:p.Thr644Ser
XM_011518142.1:c.1834A>T XP_011516444.1:p.Thr612Ser
XM_011518143.1:c.1828A>T XP_011516445.1:p.Thr610Ser
XM_011518145.1:c.1687A>T XP_011516447.1:p.Thr563Ser
XM_011518147.1:c.1015A>T XP_011516449.1:p.Thr339Ser
XR_929703.1:n.2319A>T
NM_001353193.1:c.2143A>T NP_001340122.1:p.Thr715Ser
NM_001353194.1:c.1915A>T NP_001340123.1:p.Thr639Ser
NM_001353195.1:c.1726A>T NP_001340124.1:p.Thr576Ser
NM_001353196.1:c.1987A>T NP_001340125.1:p.Thr663Ser
NM_001353197.1:c.1981A>T NP_001340126.1:p.Thr661Ser
NM_001353198.1:c.1981A>T NP_001340127.1:p.Thr661Ser
NM_001353199.1:c.1792A>T NP_001340128.1:p.Thr598Ser
NM_001353200.1:c.1621A>T NP_001340129.1:p.Thr541Ser
NR_148391.1:n.2127A>T
NR_148392.1:n.2345A>T
NR_148393.1:n.2266A>T
NR_148394.1:n.2020A>T
NR_148395.1:n.2418A>T
NR_148396.1:n.2052A>T
NR_148397.1:n.2177A>T
NR_148398.1:n.2132A>T
NR_148399.1:n.2658A>T
NR_148400.1:n.2257A>T
XM_005272162.3:c.946A>T XP_005272219.1:p.Thr316Ser
XM_006716932.2:c.1792A>T XP_006716995.1:p.Thr598Ser
XM_011518140.2:c.1996A>T XP_011516442.1:p.Thr666Ser
XM_011518141.2:c.1930A>T XP_011516443.1:p.Thr644Ser
XM_011518142.2:c.1834A>T XP_011516444.1:p.Thr612Ser
XM_011518143.2:c.1828A>T XP_011516445.1:p.Thr610Ser
XM_011518145.2:c.1687A>T XP_011516447.1:p.Thr563Ser
XM_017014205.2:c.946A>T XP_016869694.1:p.Thr316Ser
XM_024447380.1:c.946A>T XP_024303148.1:p.Thr316Ser
XM_024447381.1:c.1252A>T XP_024303149.1:p.Thr418Ser
XM_024447382.1:c.946A>T XP_024303150.1:p.Thr316Ser
XR_001746160.2:n.2247A>T
XR_001746162.2:n.2452A>T
XR_001746164.1:n.2169A>T
XR_001746166.2:n.2464A>T
NM_001077365.2:c.2077A>T MANE Select NP_001070833.1:p.Thr693Ser
NM_001077366.2:c.1915A>T NP_001070834.1:p.Thr639Ser
NM_001136113.2:c.2077A>T NP_001129585.1:p.Thr693Ser
NM_001136114.2:c.1726A>T NP_001129586.1:p.Thr576Ser
NM_001353193.2:c.2143A>T NP_001340122.2:p.Thr715Ser
NM_001353194.2:c.1915A>T NP_001340123.1:p.Thr639Ser
NM_001353195.2:c.1726A>T NP_001340124.1:p.Thr576Ser
NM_001353196.2:c.1987A>T NP_001340125.1:p.Thr663Ser
NM_001353197.2:c.1981A>T NP_001340126.2:p.Thr661Ser
NM_001353198.2:c.1981A>T NP_001340127.2:p.Thr661Ser
NM_001353199.2:c.1792A>T NP_001340128.2:p.Thr598Ser
NM_001353200.2:c.1621A>T NP_001340129.1:p.Thr541Ser
NM_001374689.1:c.2065A>T NP_001361618.1:p.Thr689Ser
NM_001374690.1:c.1858A>T NP_001361619.1:p.Thr620Ser
NM_001374691.1:c.1726A>T NP_001361620.1:p.Thr576Ser
NM_001374692.1:c.1726A>T NP_001361621.1:p.Thr576Ser
NM_001374693.1:c.1726A>T NP_001361622.1:p.Thr576Ser
NM_001374695.1:c.1687A>T NP_001361624.1:p.Thr563Ser
NM_007171.4:c.2143A>T NP_009102.4:p.Thr715Ser
NR_148391.2:n.2111A>T
NR_148392.2:n.2329A>T
NR_148393.2:n.2250A>T
NR_148394.2:n.2004A>T
NR_148395.2:n.2402A>T
NR_148396.2:n.2036A>T
NR_148397.2:n.2161A>T
NR_148398.2:n.2116A>T
NR_148399.2:n.2642A>T
NR_148400.2:n.2241A>T