Canonical Allele Identifier: CA375314430
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522133A>T , CM000671.2:g.131522133A>T GRCh38
NC_000009.11:g.134397520A>T , CM000671.1:g.134397520A>T GRCh37
NC_000009.10:g.133387341A>T NCBI36
NG_008896.1:g.24232A>T
NG_008896.2:g.24232A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1750A>T ENSP00000343034.7:p.Thr584Ser
ENST00000404875.7:n.2452A>T
ENST00000423007.6:c.1969A>T ENSP00000404119.2:p.Thr657Ser
ENST00000677295.2:c.*2256A>T ENSP00000504346.2:n.*2256A>T
ENST00000678264.2:c.*2095A>T ENSP00000503157.2:n.*2095A>T
ENST00000682070.1:n.2291-69A>T
ENST00000682813.1:n.2316A>T
ENST00000683392.1:n.4573-69A>T
ENST00000683712.1:n.2317A>T
ENST00000683900.1:n.3812A>T
ENST00000684062.1:n.2578A>T
ENST00000684579.1:n.3758A>T
ENST00000684679.1:n.1139A>T
ENST00000341012.12:c.1750A>T ENSP00000343034.7:p.Thr584Ser
ENST00000372220.5:c.781A>T ENSP00000361294.5:p.Thr261Ser
ENST00000372228.9:c.1978A>T ENSP00000361302.3:p.Thr660Ser
ENST00000402686.8:c.1912A>T MANE Select ENSP00000385797.4:p.Thr638Ser
ENST00000676640.1:c.1912A>T ENSP00000503281.1:p.Thr638Ser
ENST00000676803.1:c.973A>T ENSP00000503093.1:p.Thr325Ser
ENST00000676835.1:c.*1127A>T ENSP00000502911.1:n.*1127A>T
ENST00000677029.1:c.1456A>T ENSP00000502936.1:p.Thr486Ser
ENST00000677099.1:c.*1622A>T ENSP00000504553.1:n.*1622A>T
ENST00000677216.1:c.1561A>T ENSP00000503772.1:p.Thr521Ser
ENST00000677221.1:n.937A>T
ENST00000677295.1:c.*1203-69A>T ENSP00000504346.1:n.*1203-69A>T
ENST00000677444.1:c.1857A>T
ENST00000677586.1:n.1279A>T
ENST00000677626.1:c.1561A>T ENSP00000503552.1:p.Thr521Ser
ENST00000677853.1:c.*920A>T ENSP00000503488.1:n.*920A>T
ENST00000678202.1:n.1071A>T
ENST00000678264.1:c.*1289A>T ENSP00000503157.1:n.*1289A>T
ENST00000678303.1:c.1822A>T ENSP00000503696.1:p.Thr608Ser
ENST00000678366.1:c.*2161A>T ENSP00000504353.1:n.*2161A>T
ENST00000678546.1:c.*1857A>T ENSP00000503062.1:n.*1857A>T
ENST00000678548.1:c.*2051A>T ENSP00000503934.1:n.*2051A>T
ENST00000678626.1:n.1748A>T
ENST00000678739.1:c.*2147-69A>T ENSP00000503806.1:n.*2147-69A>T
ENST00000678833.1:c.*1664A>T ENSP00000503893.1:n.*1664A>T
ENST00000679023.1:c.1750A>T ENSP00000503718.1:p.Thr584Ser
ENST00000679076.1:c.1531A>T
ENST00000679111.1:c.*668A>T ENSP00000504257.1:n.*668A>T
ENST00000679189.1:c.1561A>T ENSP00000503356.1:p.Thr521Ser
ENST00000341012.11:c.1750A>T ENSP00000343034.7:p.Thr584Ser
ENST00000372220.4:c.775A>T ENSP00000361294.4:p.Thr259Ser
ENST00000372228.7:c.1978A>T ENSP00000361302.3:p.Thr660Ser
ENST00000402686.7:c.1912A>T ENSP00000385797.3:p.Thr638Ser
ENST00000404875.6:c.1561A>T ENSP00000384531.2:p.Thr521Ser
ENST00000423007.5:c.1912A>T ENSP00000404119.1:p.Thr638Ser
ENST00000485278.5:n.2462A>T
ENST00000494883.1:n.455A>T
NM_001077365.1:c.1912A>T NP_001070833.1:p.Thr638Ser
NM_001077366.1:c.1750A>T NP_001070834.1:p.Thr584Ser
NM_001136113.1:c.1912A>T NP_001129585.1:p.Thr638Ser
NM_001136114.1:c.1561A>T NP_001129586.1:p.Thr521Ser
NM_007171.3:c.1978A>T NP_009102.3:p.Thr660Ser
XM_005272156.1:c.1978A>T XP_005272213.1:p.Thr660Ser
XM_005272158.1:c.1816A>T XP_005272215.1:p.Thr606Ser
XM_005272159.1:c.1627A>T XP_005272216.1:p.Thr543Ser
XM_005272162.1:c.781A>T XP_005272219.1:p.Thr261Ser
XM_006716932.1:c.1627A>T XP_006716995.1:p.Thr543Ser
XM_011518140.1:c.1831A>T XP_011516442.1:p.Thr611Ser
XM_011518141.1:c.1765A>T XP_011516443.1:p.Thr589Ser
XM_011518142.1:c.1669A>T XP_011516444.1:p.Thr557Ser
XM_011518143.1:c.1663A>T XP_011516445.1:p.Thr555Ser
XM_011518145.1:c.1522A>T XP_011516447.1:p.Thr508Ser
XM_011518147.1:c.850A>T XP_011516449.1:p.Thr284Ser
XR_929703.1:n.2154A>T
NM_001353193.1:c.1978A>T NP_001340122.1:p.Thr660Ser
NM_001353194.1:c.1750A>T NP_001340123.1:p.Thr584Ser
NM_001353195.1:c.1561A>T NP_001340124.1:p.Thr521Ser
NM_001353196.1:c.1822A>T NP_001340125.1:p.Thr608Ser
NM_001353197.1:c.1816A>T NP_001340126.1:p.Thr606Ser
NM_001353198.1:c.1816A>T NP_001340127.1:p.Thr606Ser
NM_001353199.1:c.1627A>T NP_001340128.1:p.Thr543Ser
NM_001353200.1:c.1456A>T NP_001340129.1:p.Thr486Ser
NR_148391.1:n.1962A>T
NR_148392.1:n.2180A>T
NR_148393.1:n.2101A>T
NR_148394.1:n.1855A>T
NR_148395.1:n.2253A>T
NR_148396.1:n.1887A>T
NR_148397.1:n.2012A>T
NR_148398.1:n.1967A>T
NR_148399.1:n.2493A>T
NR_148400.1:n.2092A>T
XM_005272162.3:c.781A>T XP_005272219.1:p.Thr261Ser
XM_006716932.2:c.1627A>T XP_006716995.1:p.Thr543Ser
XM_011518140.2:c.1831A>T XP_011516442.1:p.Thr611Ser
XM_011518141.2:c.1765A>T XP_011516443.1:p.Thr589Ser
XM_011518142.2:c.1669A>T XP_011516444.1:p.Thr557Ser
XM_011518143.2:c.1663A>T XP_011516445.1:p.Thr555Ser
XM_011518145.2:c.1522A>T XP_011516447.1:p.Thr508Ser
XM_017014205.2:c.781A>T XP_016869694.1:p.Thr261Ser
XM_024447380.1:c.781A>T XP_024303148.1:p.Thr261Ser
XM_024447381.1:c.1087A>T XP_024303149.1:p.Thr363Ser
XM_024447382.1:c.781A>T XP_024303150.1:p.Thr261Ser
XR_001746160.2:n.2082A>T
XR_001746162.2:n.2287A>T
XR_001746164.1:n.2004A>T
XR_001746166.2:n.2299A>T
NM_001077365.2:c.1912A>T MANE Select NP_001070833.1:p.Thr638Ser
NM_001077366.2:c.1750A>T NP_001070834.1:p.Thr584Ser
NM_001136113.2:c.1912A>T NP_001129585.1:p.Thr638Ser
NM_001136114.2:c.1561A>T NP_001129586.1:p.Thr521Ser
NM_001353193.2:c.1978A>T NP_001340122.2:p.Thr660Ser
NM_001353194.2:c.1750A>T NP_001340123.1:p.Thr584Ser
NM_001353195.2:c.1561A>T NP_001340124.1:p.Thr521Ser
NM_001353196.2:c.1822A>T NP_001340125.1:p.Thr608Ser
NM_001353197.2:c.1816A>T NP_001340126.2:p.Thr606Ser
NM_001353198.2:c.1816A>T NP_001340127.2:p.Thr606Ser
NM_001353199.2:c.1627A>T NP_001340128.2:p.Thr543Ser
NM_001353200.2:c.1456A>T NP_001340129.1:p.Thr486Ser
NM_001374689.1:c.1900A>T NP_001361618.1:p.Thr634Ser
NM_001374690.1:c.1693A>T NP_001361619.1:p.Thr565Ser
NM_001374691.1:c.1561A>T NP_001361620.1:p.Thr521Ser
NM_001374692.1:c.1561A>T NP_001361621.1:p.Thr521Ser
NM_001374693.1:c.1561A>T NP_001361622.1:p.Thr521Ser
NM_001374695.1:c.1522A>T NP_001361624.1:p.Thr508Ser
NM_007171.4:c.1978A>T NP_009102.4:p.Thr660Ser
NR_148391.2:n.1946A>T
NR_148392.2:n.2164A>T
NR_148393.2:n.2085A>T
NR_148394.2:n.1839A>T
NR_148395.2:n.2237A>T
NR_148396.2:n.1871A>T
NR_148397.2:n.1996A>T
NR_148398.2:n.1951A>T
NR_148399.2:n.2477A>T
NR_148400.2:n.2076A>T