Canonical Allele Identifier: CA375314885
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522933T>A , CM000671.2:g.131522933T>A GRCh38
NC_000009.11:g.134398320T>A , CM000671.1:g.134398320T>A GRCh37
NC_000009.10:g.133388141T>A NCBI36
NG_008896.1:g.25032T>A
NG_008896.2:g.25032T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1843T>A ENSP00000343034.7:p.Ser615Thr
ENST00000404875.7:n.2545T>A
ENST00000423007.6:c.2062T>A ENSP00000404119.2:p.Ser688Thr
ENST00000677295.2:c.*2349T>A ENSP00000504346.2:n.*2349T>A
ENST00000678264.2:c.*2188T>A ENSP00000503157.2:n.*2188T>A
ENST00000682070.1:n.2315T>A
ENST00000682639.1:c.2T>A
ENST00000682813.1:n.2408-6T>A
ENST00000683231.1:c.2T>A
ENST00000683392.1:n.4597T>A
ENST00000683712.1:n.2410T>A
ENST00000683900.1:n.3905T>A
ENST00000684062.1:n.2671T>A
ENST00000684399.1:c.2T>A
ENST00000684579.1:n.3851T>A
ENST00000341012.12:c.1843T>A ENSP00000343034.7:p.Ser615Thr
ENST00000372220.5:c.874T>A ENSP00000361294.5:p.Ser292Thr
ENST00000372228.9:c.2071T>A ENSP00000361302.3:p.Ser691Thr
ENST00000402686.8:c.2005T>A MANE Select ENSP00000385797.4:p.Ser669Thr
ENST00000676640.1:c.2005T>A ENSP00000503281.1:p.Ser669Thr
ENST00000676803.1:c.1066T>A ENSP00000503093.1:p.Ser356Thr
ENST00000676835.1:c.*1220T>A ENSP00000502911.1:n.*1220T>A
ENST00000677029.1:c.1549T>A ENSP00000502936.1:p.Ser517Thr
ENST00000677099.1:c.*1715T>A ENSP00000504553.1:n.*1715T>A
ENST00000677216.1:c.1654T>A ENSP00000503772.1:p.Ser552Thr
ENST00000677221.1:n.1030T>A
ENST00000677295.1:c.*1227T>A ENSP00000504346.1:n.*1227T>A
ENST00000677444.1:c.1950T>A
ENST00000677586.1:n.1372T>A
ENST00000677626.1:c.1654T>A ENSP00000503552.1:p.Ser552Thr
ENST00000677853.1:c.*1013T>A ENSP00000503488.1:n.*1013T>A
ENST00000678264.1:c.*1382T>A ENSP00000503157.1:n.*1382T>A
ENST00000678303.1:c.1915T>A ENSP00000503696.1:p.Ser639Thr
ENST00000678366.1:c.*2254T>A ENSP00000504353.1:n.*2254T>A
ENST00000678546.1:c.*1950T>A ENSP00000503062.1:n.*1950T>A
ENST00000678548.1:c.*2144T>A ENSP00000503934.1:n.*2144T>A
ENST00000678626.1:n.1841T>A
ENST00000678739.1:c.*2171T>A ENSP00000503806.1:n.*2171T>A
ENST00000678833.1:c.*1757T>A ENSP00000503893.1:n.*1757T>A
ENST00000679023.1:c.1843T>A ENSP00000503718.1:p.Ser615Thr
ENST00000679076.1:c.1624T>A
ENST00000679111.1:c.*761T>A ENSP00000504257.1:n.*761T>A
ENST00000679189.1:c.1654T>A ENSP00000503356.1:p.Ser552Thr
ENST00000341012.11:c.1843T>A ENSP00000343034.7:p.Ser615Thr
ENST00000372220.4:c.868T>A ENSP00000361294.4:p.Ser290Thr
ENST00000372228.7:c.2071T>A ENSP00000361302.3:p.Ser691Thr
ENST00000402686.7:c.2005T>A ENSP00000385797.3:p.Ser669Thr
ENST00000404875.6:c.1654T>A ENSP00000384531.2:p.Ser552Thr
ENST00000423007.5:c.2005T>A ENSP00000404119.1:p.Ser669Thr
ENST00000485278.5:n.2555T>A
NM_001077365.1:c.2005T>A NP_001070833.1:p.Ser669Thr
NM_001077366.1:c.1843T>A NP_001070834.1:p.Ser615Thr
NM_001136113.1:c.2005T>A NP_001129585.1:p.Ser669Thr
NM_001136114.1:c.1654T>A NP_001129586.1:p.Ser552Thr
NM_007171.3:c.2071T>A NP_009102.3:p.Ser691Thr
XM_005272156.1:c.2071T>A XP_005272213.1:p.Ser691Thr
XM_005272158.1:c.1909T>A XP_005272215.1:p.Ser637Thr
XM_005272159.1:c.1720T>A XP_005272216.1:p.Ser574Thr
XM_005272162.1:c.874T>A XP_005272219.1:p.Ser292Thr
XM_006716932.1:c.1720T>A XP_006716995.1:p.Ser574Thr
XM_011518140.1:c.1924T>A XP_011516442.1:p.Ser642Thr
XM_011518141.1:c.1858T>A XP_011516443.1:p.Ser620Thr
XM_011518142.1:c.1762T>A XP_011516444.1:p.Ser588Thr
XM_011518143.1:c.1756T>A XP_011516445.1:p.Ser586Thr
XM_011518145.1:c.1615T>A XP_011516447.1:p.Ser539Thr
XM_011518147.1:c.943T>A XP_011516449.1:p.Ser315Thr
XR_929703.1:n.2247T>A
NM_001353193.1:c.2071T>A NP_001340122.1:p.Ser691Thr
NM_001353194.1:c.1843T>A NP_001340123.1:p.Ser615Thr
NM_001353195.1:c.1654T>A NP_001340124.1:p.Ser552Thr
NM_001353196.1:c.1915T>A NP_001340125.1:p.Ser639Thr
NM_001353197.1:c.1909T>A NP_001340126.1:p.Ser637Thr
NM_001353198.1:c.1909T>A NP_001340127.1:p.Ser637Thr
NM_001353199.1:c.1720T>A NP_001340128.1:p.Ser574Thr
NM_001353200.1:c.1549T>A NP_001340129.1:p.Ser517Thr
NR_148391.1:n.2055T>A
NR_148392.1:n.2273T>A
NR_148393.1:n.2194T>A
NR_148394.1:n.1948T>A
NR_148395.1:n.2346T>A
NR_148396.1:n.1980T>A
NR_148397.1:n.2105T>A
NR_148398.1:n.2060T>A
NR_148399.1:n.2586T>A
NR_148400.1:n.2185T>A
XM_005272162.3:c.874T>A XP_005272219.1:p.Ser292Thr
XM_006716932.2:c.1720T>A XP_006716995.1:p.Ser574Thr
XM_011518140.2:c.1924T>A XP_011516442.1:p.Ser642Thr
XM_011518141.2:c.1858T>A XP_011516443.1:p.Ser620Thr
XM_011518142.2:c.1762T>A XP_011516444.1:p.Ser588Thr
XM_011518143.2:c.1756T>A XP_011516445.1:p.Ser586Thr
XM_011518145.2:c.1615T>A XP_011516447.1:p.Ser539Thr
XM_017014205.2:c.874T>A XP_016869694.1:p.Ser292Thr
XM_024447380.1:c.874T>A XP_024303148.1:p.Ser292Thr
XM_024447381.1:c.1180T>A XP_024303149.1:p.Ser394Thr
XM_024447382.1:c.874T>A XP_024303150.1:p.Ser292Thr
XR_001746160.2:n.2175T>A
XR_001746162.2:n.2380T>A
XR_001746164.1:n.2097T>A
XR_001746166.2:n.2392T>A
NM_001077365.2:c.2005T>A MANE Select NP_001070833.1:p.Ser669Thr
NM_001077366.2:c.1843T>A NP_001070834.1:p.Ser615Thr
NM_001136113.2:c.2005T>A NP_001129585.1:p.Ser669Thr
NM_001136114.2:c.1654T>A NP_001129586.1:p.Ser552Thr
NM_001353193.2:c.2071T>A NP_001340122.2:p.Ser691Thr
NM_001353194.2:c.1843T>A NP_001340123.1:p.Ser615Thr
NM_001353195.2:c.1654T>A NP_001340124.1:p.Ser552Thr
NM_001353196.2:c.1915T>A NP_001340125.1:p.Ser639Thr
NM_001353197.2:c.1909T>A NP_001340126.2:p.Ser637Thr
NM_001353198.2:c.1909T>A NP_001340127.2:p.Ser637Thr
NM_001353199.2:c.1720T>A NP_001340128.2:p.Ser574Thr
NM_001353200.2:c.1549T>A NP_001340129.1:p.Ser517Thr
NM_001374689.1:c.1993T>A NP_001361618.1:p.Ser665Thr
NM_001374690.1:c.1786T>A NP_001361619.1:p.Ser596Thr
NM_001374691.1:c.1654T>A NP_001361620.1:p.Ser552Thr
NM_001374692.1:c.1654T>A NP_001361621.1:p.Ser552Thr
NM_001374693.1:c.1654T>A NP_001361622.1:p.Ser552Thr
NM_001374695.1:c.1615T>A NP_001361624.1:p.Ser539Thr
NM_007171.4:c.2071T>A NP_009102.4:p.Ser691Thr
NR_148391.2:n.2039T>A
NR_148392.2:n.2257T>A
NR_148393.2:n.2178T>A
NR_148394.2:n.1932T>A
NR_148395.2:n.2330T>A
NR_148396.2:n.1964T>A
NR_148397.2:n.2089T>A
NR_148398.2:n.2044T>A
NR_148399.2:n.2570T>A
NR_148400.2:n.2169T>A