Canonical Allele Identifier: CA1881760371
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523037_131523039delinsACT , CM000671.2:g.131523037_131523039delinsACT GRCh38
NC_000009.11:g.134398424_134398426delinsACT , CM000671.1:g.134398424_134398426delinsACT GRCh37
NC_000009.10:g.133388245_133388247delinsACT NCBI36
NG_008896.1:g.25136_25138delinsACT
NG_008896.2:g.25136_25138delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1947_1949delinsACT ENSP00000343034.7:p.Ser649=
ENST00000404875.7:n.2649_2651delinsACT
ENST00000423007.6:c.2166_2168delinsACT ENSP00000404119.2:p.Ser722=
ENST00000677295.2:c.*2453_*2455delinsACT ENSP00000504346.2:n.*2453_*2455delinsACT
ENST00000678264.2:c.*2292_*2294delinsACT ENSP00000503157.2:n.*2292_*2294delinsACT
ENST00000682070.1:n.2419_2421delinsACT
ENST00000682639.1:c.106_108delinsACT
ENST00000682813.1:n.2506_2508delinsACT
ENST00000683231.1:c.106_108delinsACT
ENST00000683392.1:n.4701_4703delinsACT
ENST00000683712.1:n.2514_2516delinsACT
ENST00000683900.1:n.4009_4011delinsACT
ENST00000684062.1:n.2775_2777delinsACT
ENST00000684399.1:c.106_108delinsACT
ENST00000684579.1:n.3955_3957delinsACT
ENST00000341012.12:c.1947_1949delinsACT ENSP00000343034.7:p.Ser649=
ENST00000372220.5:c.978_980delinsACT ENSP00000361294.5:p.Ser326=
ENST00000372228.9:c.2175_2177delinsACT ENSP00000361302.3:p.Ser725=
ENST00000402686.8:c.2109_2111delinsACT MANE Select ENSP00000385797.4:p.Ser703=
ENST00000676640.1:c.2109_2111delinsACT ENSP00000503281.1:p.Ser703=
ENST00000676803.1:c.1170_1172delinsACT ENSP00000503093.1:p.Ser390=
ENST00000676835.1:c.*1324_*1326delinsACT ENSP00000502911.1:n.*1324_*1326delinsACT
ENST00000677029.1:c.1653_1655delinsACT ENSP00000502936.1:p.Ser551=
ENST00000677099.1:c.*1819_*1821delinsACT ENSP00000504553.1:n.*1819_*1821delinsACT
ENST00000677216.1:c.1758_1760delinsACT ENSP00000503772.1:p.Ser586=
ENST00000677295.1:c.*1331_*1333delinsACT ENSP00000504346.1:n.*1331_*1333delinsACT
ENST00000677444.1:c.2054_2056delinsACT
ENST00000677586.1:n.1476_1478delinsACT
ENST00000677626.1:c.1758_1760delinsACT ENSP00000503552.1:p.Ser586=
ENST00000677853.1:c.*1117_*1119delinsACT ENSP00000503488.1:n.*1117_*1119delinsACT
ENST00000678264.1:c.*1486_*1488delinsACT ENSP00000503157.1:n.*1486_*1488delinsACT
ENST00000678303.1:c.2019_2021delinsACT ENSP00000503696.1:p.Ser673=
ENST00000678366.1:c.*2358_*2360delinsACT ENSP00000504353.1:n.*2358_*2360delinsACT
ENST00000678546.1:c.*2054_*2056delinsACT ENSP00000503062.1:n.*2054_*2056delinsACT
ENST00000678548.1:c.*2248_*2250delinsACT ENSP00000503934.1:n.*2248_*2250delinsACT
ENST00000678626.1:n.1945_1947delinsACT
ENST00000678739.1:c.*2275_*2277delinsACT ENSP00000503806.1:n.*2275_*2277delinsACT
ENST00000678833.1:c.*1861_*1863delinsACT ENSP00000503893.1:n.*1861_*1863delinsACT
ENST00000679023.1:c.1947_1949delinsACT ENSP00000503718.1:p.Ser649=
ENST00000679076.1:c.1728_1730delinsACT
ENST00000679111.1:c.*865_*867delinsACT ENSP00000504257.1:n.*865_*867delinsACT
ENST00000679189.1:c.1758_1760delinsACT ENSP00000503356.1:p.Ser586=
ENST00000341012.11:c.1947_1949delinsACT ENSP00000343034.7:p.Ser649=
ENST00000372220.4:c.972_974delinsACT ENSP00000361294.4:p.Ser324=
ENST00000372228.7:c.2175_2177delinsACT ENSP00000361302.3:p.Ser725=
ENST00000402686.7:c.2109_2111delinsACT ENSP00000385797.3:p.Ser703=
ENST00000404875.6:c.1758_1760delinsACT ENSP00000384531.2:p.Ser586=
ENST00000423007.5:c.2109_2111delinsACT ENSP00000404119.1:p.Ser703=
ENST00000485278.5:n.2659_2661delinsACT
NM_001077365.1:c.2109_2111delinsACT NP_001070833.1:p.Ser703=
NM_001077366.1:c.1947_1949delinsACT NP_001070834.1:p.Ser649=
NM_001136113.1:c.2109_2111delinsACT NP_001129585.1:p.Ser703=
NM_001136114.1:c.1758_1760delinsACT NP_001129586.1:p.Ser586=
NM_007171.3:c.2175_2177delinsACT NP_009102.3:p.Ser725=
XM_005272156.1:c.2175_2177delinsACT XP_005272213.1:p.Ser725=
XM_005272158.1:c.2013_2015delinsACT XP_005272215.1:p.Ser671=
XM_005272159.1:c.1824_1826delinsACT XP_005272216.1:p.Ser608=
XM_005272162.1:c.978_980delinsACT XP_005272219.1:p.Ser326=
XM_006716932.1:c.1824_1826delinsACT XP_006716995.1:p.Ser608=
XM_011518140.1:c.2028_2030delinsACT XP_011516442.1:p.Ser676=
XM_011518141.1:c.1962_1964delinsACT XP_011516443.1:p.Ser654=
XM_011518142.1:c.1866_1868delinsACT XP_011516444.1:p.Ser622=
XM_011518143.1:c.1860_1862delinsACT XP_011516445.1:p.Ser620=
XM_011518145.1:c.1719_1721delinsACT XP_011516447.1:p.Ser573=
XM_011518147.1:c.1047_1049delinsACT XP_011516449.1:p.Ser349=
XR_929703.1:n.2351_2353delinsACT
NM_001353193.1:c.2175_2177delinsACT NP_001340122.1:p.Ser725=
NM_001353194.1:c.1947_1949delinsACT NP_001340123.1:p.Ser649=
NM_001353195.1:c.1758_1760delinsACT NP_001340124.1:p.Ser586=
NM_001353196.1:c.2019_2021delinsACT NP_001340125.1:p.Ser673=
NM_001353197.1:c.2013_2015delinsACT NP_001340126.1:p.Ser671=
NM_001353198.1:c.2013_2015delinsACT NP_001340127.1:p.Ser671=
NM_001353199.1:c.1824_1826delinsACT NP_001340128.1:p.Ser608=
NM_001353200.1:c.1653_1655delinsACT NP_001340129.1:p.Ser551=
NR_148391.1:n.2159_2161delinsACT
NR_148392.1:n.2377_2379delinsACT
NR_148393.1:n.2298_2300delinsACT
NR_148394.1:n.2052_2054delinsACT
NR_148395.1:n.2450_2452delinsACT
NR_148396.1:n.2084_2086delinsACT
NR_148397.1:n.2209_2211delinsACT
NR_148398.1:n.2164_2166delinsACT
NR_148399.1:n.2690_2692delinsACT
NR_148400.1:n.2289_2291delinsACT
XM_005272162.3:c.978_980delinsACT XP_005272219.1:p.Ser326=
XM_006716932.2:c.1824_1826delinsACT XP_006716995.1:p.Ser608=
XM_011518140.2:c.2028_2030delinsACT XP_011516442.1:p.Ser676=
XM_011518141.2:c.1962_1964delinsACT XP_011516443.1:p.Ser654=
XM_011518142.2:c.1866_1868delinsACT XP_011516444.1:p.Ser622=
XM_011518143.2:c.1860_1862delinsACT XP_011516445.1:p.Ser620=
XM_011518145.2:c.1719_1721delinsACT XP_011516447.1:p.Ser573=
XM_017014205.2:c.978_980delinsACT XP_016869694.1:p.Ser326=
XM_024447380.1:c.978_980delinsACT XP_024303148.1:p.Ser326=
XM_024447381.1:c.1284_1286delinsACT XP_024303149.1:p.Ser428=
XM_024447382.1:c.978_980delinsACT XP_024303150.1:p.Ser326=
XR_001746160.2:n.2279_2281delinsACT
XR_001746162.2:n.2484_2486delinsACT
XR_001746164.1:n.2201_2203delinsACT
XR_001746166.2:n.2496_2498delinsACT
NM_001077365.2:c.2109_2111delinsACT MANE Select NP_001070833.1:p.Ser703=
NM_001077366.2:c.1947_1949delinsACT NP_001070834.1:p.Ser649=
NM_001136113.2:c.2109_2111delinsACT NP_001129585.1:p.Ser703=
NM_001136114.2:c.1758_1760delinsACT NP_001129586.1:p.Ser586=
NM_001353193.2:c.2175_2177delinsACT NP_001340122.2:p.Ser725=
NM_001353194.2:c.1947_1949delinsACT NP_001340123.1:p.Ser649=
NM_001353195.2:c.1758_1760delinsACT NP_001340124.1:p.Ser586=
NM_001353196.2:c.2019_2021delinsACT NP_001340125.1:p.Ser673=
NM_001353197.2:c.2013_2015delinsACT NP_001340126.2:p.Ser671=
NM_001353198.2:c.2013_2015delinsACT NP_001340127.2:p.Ser671=
NM_001353199.2:c.1824_1826delinsACT NP_001340128.2:p.Ser608=
NM_001353200.2:c.1653_1655delinsACT NP_001340129.1:p.Ser551=
NM_001374689.1:c.2097_2099delinsACT NP_001361618.1:p.Ser699=
NM_001374690.1:c.1890_1892delinsACT NP_001361619.1:p.Ser630=
NM_001374691.1:c.1758_1760delinsACT NP_001361620.1:p.Ser586=
NM_001374692.1:c.1758_1760delinsACT NP_001361621.1:p.Ser586=
NM_001374693.1:c.1758_1760delinsACT NP_001361622.1:p.Ser586=
NM_001374695.1:c.1719_1721delinsACT NP_001361624.1:p.Ser573=
NM_007171.4:c.2175_2177delinsACT NP_009102.4:p.Ser725=
NR_148391.2:n.2143_2145delinsACT
NR_148392.2:n.2361_2363delinsACT
NR_148393.2:n.2282_2284delinsACT
NR_148394.2:n.2036_2038delinsACT
NR_148395.2:n.2434_2436delinsACT
NR_148396.2:n.2068_2070delinsACT
NR_148397.2:n.2193_2195delinsACT
NR_148398.2:n.2148_2150delinsACT
NR_148399.2:n.2674_2676delinsACT
NR_148400.2:n.2273_2275delinsACT