Canonical Allele Identifier: CA375315216
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523020A>G , CM000671.2:g.131523020A>G GRCh38
NC_000009.11:g.134398407A>G , CM000671.1:g.134398407A>G GRCh37
NC_000009.10:g.133388228A>G NCBI36
NG_008896.1:g.25119A>G
NG_008896.2:g.25119A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1930A>G ENSP00000343034.7:p.Thr644Ala
ENST00000404875.7:n.2632A>G
ENST00000423007.6:c.2149A>G ENSP00000404119.2:p.Thr717Ala
ENST00000677295.2:c.*2436A>G ENSP00000504346.2:n.*2436A>G
ENST00000678264.2:c.*2275A>G ENSP00000503157.2:n.*2275A>G
ENST00000682070.1:n.2402A>G
ENST00000682639.1:c.89A>G
ENST00000682813.1:n.2489A>G
ENST00000683231.1:c.89A>G
ENST00000683392.1:n.4684A>G
ENST00000683712.1:n.2497A>G
ENST00000683900.1:n.3992A>G
ENST00000684062.1:n.2758A>G
ENST00000684399.1:c.89A>G
ENST00000684579.1:n.3938A>G
ENST00000341012.12:c.1930A>G ENSP00000343034.7:p.Thr644Ala
ENST00000372220.5:c.961A>G ENSP00000361294.5:p.Thr321Ala
ENST00000372228.9:c.2158A>G ENSP00000361302.3:p.Thr720Ala
ENST00000402686.8:c.2092A>G MANE Select ENSP00000385797.4:p.Thr698Ala
ENST00000676640.1:c.2092A>G ENSP00000503281.1:p.Thr698Ala
ENST00000676803.1:c.1153A>G ENSP00000503093.1:p.Thr385Ala
ENST00000676835.1:c.*1307A>G ENSP00000502911.1:n.*1307A>G
ENST00000677029.1:c.1636A>G ENSP00000502936.1:p.Thr546Ala
ENST00000677099.1:c.*1802A>G ENSP00000504553.1:n.*1802A>G
ENST00000677216.1:c.1741A>G ENSP00000503772.1:p.Thr581Ala
ENST00000677221.1:n.1117A>G
ENST00000677295.1:c.*1314A>G ENSP00000504346.1:n.*1314A>G
ENST00000677444.1:c.2037A>G
ENST00000677586.1:n.1459A>G
ENST00000677626.1:c.1741A>G ENSP00000503552.1:p.Thr581Ala
ENST00000677853.1:c.*1100A>G ENSP00000503488.1:n.*1100A>G
ENST00000678264.1:c.*1469A>G ENSP00000503157.1:n.*1469A>G
ENST00000678303.1:c.2002A>G ENSP00000503696.1:p.Thr668Ala
ENST00000678366.1:c.*2341A>G ENSP00000504353.1:n.*2341A>G
ENST00000678546.1:c.*2037A>G ENSP00000503062.1:n.*2037A>G
ENST00000678548.1:c.*2231A>G ENSP00000503934.1:n.*2231A>G
ENST00000678626.1:n.1928A>G
ENST00000678739.1:c.*2258A>G ENSP00000503806.1:n.*2258A>G
ENST00000678833.1:c.*1844A>G ENSP00000503893.1:n.*1844A>G
ENST00000679023.1:c.1930A>G ENSP00000503718.1:p.Thr644Ala
ENST00000679076.1:c.1711A>G
ENST00000679111.1:c.*848A>G ENSP00000504257.1:n.*848A>G
ENST00000679189.1:c.1741A>G ENSP00000503356.1:p.Thr581Ala
ENST00000341012.11:c.1930A>G ENSP00000343034.7:p.Thr644Ala
ENST00000372220.4:c.955A>G ENSP00000361294.4:p.Thr319Ala
ENST00000372228.7:c.2158A>G ENSP00000361302.3:p.Thr720Ala
ENST00000402686.7:c.2092A>G ENSP00000385797.3:p.Thr698Ala
ENST00000404875.6:c.1741A>G ENSP00000384531.2:p.Thr581Ala
ENST00000423007.5:c.2092A>G ENSP00000404119.1:p.Thr698Ala
ENST00000485278.5:n.2642A>G
NM_001077365.1:c.2092A>G NP_001070833.1:p.Thr698Ala
NM_001077366.1:c.1930A>G NP_001070834.1:p.Thr644Ala
NM_001136113.1:c.2092A>G NP_001129585.1:p.Thr698Ala
NM_001136114.1:c.1741A>G NP_001129586.1:p.Thr581Ala
NM_007171.3:c.2158A>G NP_009102.3:p.Thr720Ala
XM_005272156.1:c.2158A>G XP_005272213.1:p.Thr720Ala
XM_005272158.1:c.1996A>G XP_005272215.1:p.Thr666Ala
XM_005272159.1:c.1807A>G XP_005272216.1:p.Thr603Ala
XM_005272162.1:c.961A>G XP_005272219.1:p.Thr321Ala
XM_006716932.1:c.1807A>G XP_006716995.1:p.Thr603Ala
XM_011518140.1:c.2011A>G XP_011516442.1:p.Thr671Ala
XM_011518141.1:c.1945A>G XP_011516443.1:p.Thr649Ala
XM_011518142.1:c.1849A>G XP_011516444.1:p.Thr617Ala
XM_011518143.1:c.1843A>G XP_011516445.1:p.Thr615Ala
XM_011518145.1:c.1702A>G XP_011516447.1:p.Thr568Ala
XM_011518147.1:c.1030A>G XP_011516449.1:p.Thr344Ala
XR_929703.1:n.2334A>G
NM_001353193.1:c.2158A>G NP_001340122.1:p.Thr720Ala
NM_001353194.1:c.1930A>G NP_001340123.1:p.Thr644Ala
NM_001353195.1:c.1741A>G NP_001340124.1:p.Thr581Ala
NM_001353196.1:c.2002A>G NP_001340125.1:p.Thr668Ala
NM_001353197.1:c.1996A>G NP_001340126.1:p.Thr666Ala
NM_001353198.1:c.1996A>G NP_001340127.1:p.Thr666Ala
NM_001353199.1:c.1807A>G NP_001340128.1:p.Thr603Ala
NM_001353200.1:c.1636A>G NP_001340129.1:p.Thr546Ala
NR_148391.1:n.2142A>G
NR_148392.1:n.2360A>G
NR_148393.1:n.2281A>G
NR_148394.1:n.2035A>G
NR_148395.1:n.2433A>G
NR_148396.1:n.2067A>G
NR_148397.1:n.2192A>G
NR_148398.1:n.2147A>G
NR_148399.1:n.2673A>G
NR_148400.1:n.2272A>G
XM_005272162.3:c.961A>G XP_005272219.1:p.Thr321Ala
XM_006716932.2:c.1807A>G XP_006716995.1:p.Thr603Ala
XM_011518140.2:c.2011A>G XP_011516442.1:p.Thr671Ala
XM_011518141.2:c.1945A>G XP_011516443.1:p.Thr649Ala
XM_011518142.2:c.1849A>G XP_011516444.1:p.Thr617Ala
XM_011518143.2:c.1843A>G XP_011516445.1:p.Thr615Ala
XM_011518145.2:c.1702A>G XP_011516447.1:p.Thr568Ala
XM_017014205.2:c.961A>G XP_016869694.1:p.Thr321Ala
XM_024447380.1:c.961A>G XP_024303148.1:p.Thr321Ala
XM_024447381.1:c.1267A>G XP_024303149.1:p.Thr423Ala
XM_024447382.1:c.961A>G XP_024303150.1:p.Thr321Ala
XR_001746160.2:n.2262A>G
XR_001746162.2:n.2467A>G
XR_001746164.1:n.2184A>G
XR_001746166.2:n.2479A>G
NM_001077365.2:c.2092A>G MANE Select NP_001070833.1:p.Thr698Ala
NM_001077366.2:c.1930A>G NP_001070834.1:p.Thr644Ala
NM_001136113.2:c.2092A>G NP_001129585.1:p.Thr698Ala
NM_001136114.2:c.1741A>G NP_001129586.1:p.Thr581Ala
NM_001353193.2:c.2158A>G NP_001340122.2:p.Thr720Ala
NM_001353194.2:c.1930A>G NP_001340123.1:p.Thr644Ala
NM_001353195.2:c.1741A>G NP_001340124.1:p.Thr581Ala
NM_001353196.2:c.2002A>G NP_001340125.1:p.Thr668Ala
NM_001353197.2:c.1996A>G NP_001340126.2:p.Thr666Ala
NM_001353198.2:c.1996A>G NP_001340127.2:p.Thr666Ala
NM_001353199.2:c.1807A>G NP_001340128.2:p.Thr603Ala
NM_001353200.2:c.1636A>G NP_001340129.1:p.Thr546Ala
NM_001374689.1:c.2080A>G NP_001361618.1:p.Thr694Ala
NM_001374690.1:c.1873A>G NP_001361619.1:p.Thr625Ala
NM_001374691.1:c.1741A>G NP_001361620.1:p.Thr581Ala
NM_001374692.1:c.1741A>G NP_001361621.1:p.Thr581Ala
NM_001374693.1:c.1741A>G NP_001361622.1:p.Thr581Ala
NM_001374695.1:c.1702A>G NP_001361624.1:p.Thr568Ala
NM_007171.4:c.2158A>G NP_009102.4:p.Thr720Ala
NR_148391.2:n.2126A>G
NR_148392.2:n.2344A>G
NR_148393.2:n.2265A>G
NR_148394.2:n.2019A>G
NR_148395.2:n.2417A>G
NR_148396.2:n.2051A>G
NR_148397.2:n.2176A>G
NR_148398.2:n.2131A>G
NR_148399.2:n.2657A>G
NR_148400.2:n.2256A>G