Canonical Allele Identifier: CA375313655
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521368A>T , CM000671.2:g.131521368A>T GRCh38
NC_000009.11:g.134396755A>T , CM000671.1:g.134396755A>T GRCh37
NC_000009.10:g.133386576A>T NCBI36
NG_008896.1:g.23467A>T
NG_008896.2:g.23467A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1559A>T ENSP00000343034.7:p.Asn520Ile
ENST00000404875.7:n.2261A>T
ENST00000423007.6:c.1778A>T ENSP00000404119.2:p.Asn593Ile
ENST00000677295.2:c.*2065A>T ENSP00000504346.2:n.*2065A>T
ENST00000678264.2:c.*1904A>T ENSP00000503157.2:n.*1904A>T
ENST00000682070.1:n.2186A>T
ENST00000682813.1:n.2125A>T
ENST00000683392.1:n.4468A>T
ENST00000683712.1:n.2126A>T
ENST00000683900.1:n.3621A>T
ENST00000684062.1:n.2387A>T
ENST00000684579.1:n.3567A>T
ENST00000684679.1:n.948A>T
ENST00000341012.12:c.1559A>T ENSP00000343034.7:p.Asn520Ile
ENST00000372220.5:c.590A>T ENSP00000361294.5:p.Asn197Ile
ENST00000372228.9:c.1787A>T ENSP00000361302.3:p.Asn596Ile
ENST00000402686.8:c.1721A>T MANE Select ENSP00000385797.4:p.Asn574Ile
ENST00000676640.1:c.1721A>T ENSP00000503281.1:p.Asn574Ile
ENST00000676803.1:c.782A>T ENSP00000503093.1:p.Asn261Ile
ENST00000676835.1:c.*936A>T ENSP00000502911.1:n.*936A>T
ENST00000677029.1:c.1265A>T ENSP00000502936.1:p.Asn422Ile
ENST00000677099.1:c.*1431A>T ENSP00000504553.1:n.*1431A>T
ENST00000677216.1:c.1370A>T ENSP00000503772.1:p.Asn457Ile
ENST00000677221.1:n.746A>T
ENST00000677295.1:c.*1098A>T ENSP00000504346.1:n.*1098A>T
ENST00000677444.1:c.1666A>T
ENST00000677586.1:n.1088A>T
ENST00000677626.1:c.1370A>T ENSP00000503552.1:p.Asn457Ile
ENST00000677853.1:c.*729A>T ENSP00000503488.1:n.*729A>T
ENST00000678202.1:n.880A>T
ENST00000678264.1:c.*1098A>T ENSP00000503157.1:n.*1098A>T
ENST00000678303.1:c.1631A>T ENSP00000503696.1:p.Asn544Ile
ENST00000678366.1:c.*1970A>T ENSP00000504353.1:n.*1970A>T
ENST00000678546.1:c.*1666A>T ENSP00000503062.1:n.*1666A>T
ENST00000678548.1:c.*1793A>T ENSP00000503934.1:n.*1793A>T
ENST00000678626.1:n.1557A>T
ENST00000678739.1:c.*2042A>T ENSP00000503806.1:n.*2042A>T
ENST00000678833.1:c.*1473A>T ENSP00000503893.1:n.*1473A>T
ENST00000679023.1:c.1559A>T ENSP00000503718.1:p.Asn520Ile
ENST00000679076.1:c.1340A>T
ENST00000679111.1:c.*477A>T ENSP00000504257.1:n.*477A>T
ENST00000679189.1:c.1370A>T ENSP00000503356.1:p.Asn457Ile
ENST00000341012.11:c.1559A>T ENSP00000343034.7:p.Asn520Ile
ENST00000372220.4:c.584A>T ENSP00000361294.4:p.Asn195Ile
ENST00000372228.7:c.1787A>T ENSP00000361302.3:p.Asn596Ile
ENST00000402686.7:c.1721A>T ENSP00000385797.3:p.Asn574Ile
ENST00000404875.6:c.1370A>T ENSP00000384531.2:p.Asn457Ile
ENST00000423007.5:c.1721A>T ENSP00000404119.1:p.Asn574Ile
ENST00000467848.1:n.425A>T
ENST00000485278.5:n.2271A>T
ENST00000494883.1:n.264A>T
NM_001077365.1:c.1721A>T NP_001070833.1:p.Asn574Ile
NM_001077366.1:c.1559A>T NP_001070834.1:p.Asn520Ile
NM_001136113.1:c.1721A>T NP_001129585.1:p.Asn574Ile
NM_001136114.1:c.1370A>T NP_001129586.1:p.Asn457Ile
NM_007171.3:c.1787A>T NP_009102.3:p.Asn596Ile
XM_005272156.1:c.1787A>T XP_005272213.1:p.Asn596Ile
XM_005272158.1:c.1625A>T XP_005272215.1:p.Asn542Ile
XM_005272159.1:c.1436A>T XP_005272216.1:p.Asn479Ile
XM_005272162.1:c.590A>T XP_005272219.1:p.Asn197Ile
XM_006716932.1:c.1436A>T XP_006716995.1:p.Asn479Ile
XM_011518140.1:c.1640A>T XP_011516442.1:p.Asn547Ile
XM_011518141.1:c.1574A>T XP_011516443.1:p.Asn525Ile
XM_011518142.1:c.1478A>T XP_011516444.1:p.Asn493Ile
XM_011518143.1:c.1472A>T XP_011516445.1:p.Asn491Ile
XM_011518145.1:c.1331A>T XP_011516447.1:p.Asn444Ile
XM_011518147.1:c.659A>T XP_011516449.1:p.Asn220Ile
XR_929703.1:n.1963A>T
NM_001353193.1:c.1787A>T NP_001340122.1:p.Asn596Ile
NM_001353194.1:c.1559A>T NP_001340123.1:p.Asn520Ile
NM_001353195.1:c.1370A>T NP_001340124.1:p.Asn457Ile
NM_001353196.1:c.1631A>T NP_001340125.1:p.Asn544Ile
NM_001353197.1:c.1625A>T NP_001340126.1:p.Asn542Ile
NM_001353198.1:c.1625A>T NP_001340127.1:p.Asn542Ile
NM_001353199.1:c.1436A>T NP_001340128.1:p.Asn479Ile
NM_001353200.1:c.1265A>T NP_001340129.1:p.Asn422Ile
NR_148391.1:n.1771A>T
NR_148392.1:n.1989A>T
NR_148393.1:n.1910A>T
NR_148394.1:n.1664A>T
NR_148395.1:n.2062A>T
NR_148396.1:n.1696A>T
NR_148397.1:n.1821A>T
NR_148398.1:n.1776A>T
NR_148399.1:n.2302A>T
NR_148400.1:n.1901A>T
XM_005272162.3:c.590A>T XP_005272219.1:p.Asn197Ile
XM_006716932.2:c.1436A>T XP_006716995.1:p.Asn479Ile
XM_011518140.2:c.1640A>T XP_011516442.1:p.Asn547Ile
XM_011518141.2:c.1574A>T XP_011516443.1:p.Asn525Ile
XM_011518142.2:c.1478A>T XP_011516444.1:p.Asn493Ile
XM_011518143.2:c.1472A>T XP_011516445.1:p.Asn491Ile
XM_011518145.2:c.1331A>T XP_011516447.1:p.Asn444Ile
XM_017014205.2:c.590A>T XP_016869694.1:p.Asn197Ile
XM_024447380.1:c.590A>T XP_024303148.1:p.Asn197Ile
XM_024447381.1:c.896A>T XP_024303149.1:p.Asn299Ile
XM_024447382.1:c.590A>T XP_024303150.1:p.Asn197Ile
XR_001746160.2:n.1891A>T
XR_001746162.2:n.2096A>T
XR_001746164.1:n.1813A>T
XR_001746166.2:n.2108A>T
NM_001077365.2:c.1721A>T MANE Select NP_001070833.1:p.Asn574Ile
NM_001077366.2:c.1559A>T NP_001070834.1:p.Asn520Ile
NM_001136113.2:c.1721A>T NP_001129585.1:p.Asn574Ile
NM_001136114.2:c.1370A>T NP_001129586.1:p.Asn457Ile
NM_001353193.2:c.1787A>T NP_001340122.2:p.Asn596Ile
NM_001353194.2:c.1559A>T NP_001340123.1:p.Asn520Ile
NM_001353195.2:c.1370A>T NP_001340124.1:p.Asn457Ile
NM_001353196.2:c.1631A>T NP_001340125.1:p.Asn544Ile
NM_001353197.2:c.1625A>T NP_001340126.2:p.Asn542Ile
NM_001353198.2:c.1625A>T NP_001340127.2:p.Asn542Ile
NM_001353199.2:c.1436A>T NP_001340128.2:p.Asn479Ile
NM_001353200.2:c.1265A>T NP_001340129.1:p.Asn422Ile
NM_001374689.1:c.1709A>T NP_001361618.1:p.Asn570Ile
NM_001374690.1:c.1502A>T NP_001361619.1:p.Asn501Ile
NM_001374691.1:c.1370A>T NP_001361620.1:p.Asn457Ile
NM_001374692.1:c.1370A>T NP_001361621.1:p.Asn457Ile
NM_001374693.1:c.1370A>T NP_001361622.1:p.Asn457Ile
NM_001374695.1:c.1331A>T NP_001361624.1:p.Asn444Ile
NM_007171.4:c.1787A>T NP_009102.4:p.Asn596Ile
NR_148391.2:n.1755A>T
NR_148392.2:n.1973A>T
NR_148393.2:n.1894A>T
NR_148394.2:n.1648A>T
NR_148395.2:n.2046A>T
NR_148396.2:n.1680A>T
NR_148397.2:n.1805A>T
NR_148398.2:n.1760A>T
NR_148399.2:n.2286A>T
NR_148400.2:n.1885A>T