Canonical Allele Identifier: CA375313658
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521369C>G , CM000671.2:g.131521369C>G GRCh38
NC_000009.11:g.134396756C>G , CM000671.1:g.134396756C>G GRCh37
NC_000009.10:g.133386577C>G NCBI36
NG_008896.1:g.23468C>G
NG_008896.2:g.23468C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1560C>G ENSP00000343034.7:p.Asn520Lys
ENST00000404875.7:n.2262C>G
ENST00000423007.6:c.1779C>G ENSP00000404119.2:p.Asn593Lys
ENST00000677295.2:c.*2066C>G ENSP00000504346.2:n.*2066C>G
ENST00000678264.2:c.*1905C>G ENSP00000503157.2:n.*1905C>G
ENST00000682070.1:n.2187C>G
ENST00000682813.1:n.2126C>G
ENST00000683392.1:n.4469C>G
ENST00000683712.1:n.2127C>G
ENST00000683900.1:n.3622C>G
ENST00000684062.1:n.2388C>G
ENST00000684579.1:n.3568C>G
ENST00000684679.1:n.949C>G
ENST00000341012.12:c.1560C>G ENSP00000343034.7:p.Asn520Lys
ENST00000372220.5:c.591C>G ENSP00000361294.5:p.Asn197Lys
ENST00000372228.9:c.1788C>G ENSP00000361302.3:p.Asn596Lys
ENST00000402686.8:c.1722C>G MANE Select ENSP00000385797.4:p.Asn574Lys
ENST00000676640.1:c.1722C>G ENSP00000503281.1:p.Asn574Lys
ENST00000676803.1:c.783C>G ENSP00000503093.1:p.Asn261Lys
ENST00000676835.1:c.*937C>G ENSP00000502911.1:n.*937C>G
ENST00000677029.1:c.1266C>G ENSP00000502936.1:p.Asn422Lys
ENST00000677099.1:c.*1432C>G ENSP00000504553.1:n.*1432C>G
ENST00000677216.1:c.1371C>G ENSP00000503772.1:p.Asn457Lys
ENST00000677221.1:n.747C>G
ENST00000677295.1:c.*1099C>G ENSP00000504346.1:n.*1099C>G
ENST00000677444.1:c.1667C>G
ENST00000677586.1:n.1089C>G
ENST00000677626.1:c.1371C>G ENSP00000503552.1:p.Asn457Lys
ENST00000677853.1:c.*730C>G ENSP00000503488.1:n.*730C>G
ENST00000678202.1:n.881C>G
ENST00000678264.1:c.*1099C>G ENSP00000503157.1:n.*1099C>G
ENST00000678303.1:c.1632C>G ENSP00000503696.1:p.Asn544Lys
ENST00000678366.1:c.*1971C>G ENSP00000504353.1:n.*1971C>G
ENST00000678546.1:c.*1667C>G ENSP00000503062.1:n.*1667C>G
ENST00000678548.1:c.*1794C>G ENSP00000503934.1:n.*1794C>G
ENST00000678626.1:n.1558C>G
ENST00000678739.1:c.*2043C>G ENSP00000503806.1:n.*2043C>G
ENST00000678833.1:c.*1474C>G ENSP00000503893.1:n.*1474C>G
ENST00000679023.1:c.1560C>G ENSP00000503718.1:p.Asn520Lys
ENST00000679076.1:c.1341C>G
ENST00000679111.1:c.*478C>G ENSP00000504257.1:n.*478C>G
ENST00000679189.1:c.1371C>G ENSP00000503356.1:p.Asn457Lys
ENST00000341012.11:c.1560C>G ENSP00000343034.7:p.Asn520Lys
ENST00000372220.4:c.585C>G ENSP00000361294.4:p.Asn195Lys
ENST00000372228.7:c.1788C>G ENSP00000361302.3:p.Asn596Lys
ENST00000402686.7:c.1722C>G ENSP00000385797.3:p.Asn574Lys
ENST00000404875.6:c.1371C>G ENSP00000384531.2:p.Asn457Lys
ENST00000423007.5:c.1722C>G ENSP00000404119.1:p.Asn574Lys
ENST00000467848.1:n.426C>G
ENST00000485278.5:n.2272C>G
ENST00000494883.1:n.265C>G
NM_001077365.1:c.1722C>G NP_001070833.1:p.Asn574Lys
NM_001077366.1:c.1560C>G NP_001070834.1:p.Asn520Lys
NM_001136113.1:c.1722C>G NP_001129585.1:p.Asn574Lys
NM_001136114.1:c.1371C>G NP_001129586.1:p.Asn457Lys
NM_007171.3:c.1788C>G NP_009102.3:p.Asn596Lys
XM_005272156.1:c.1788C>G XP_005272213.1:p.Asn596Lys
XM_005272158.1:c.1626C>G XP_005272215.1:p.Asn542Lys
XM_005272159.1:c.1437C>G XP_005272216.1:p.Asn479Lys
XM_005272162.1:c.591C>G XP_005272219.1:p.Asn197Lys
XM_006716932.1:c.1437C>G XP_006716995.1:p.Asn479Lys
XM_011518140.1:c.1641C>G XP_011516442.1:p.Asn547Lys
XM_011518141.1:c.1575C>G XP_011516443.1:p.Asn525Lys
XM_011518142.1:c.1479C>G XP_011516444.1:p.Asn493Lys
XM_011518143.1:c.1473C>G XP_011516445.1:p.Asn491Lys
XM_011518145.1:c.1332C>G XP_011516447.1:p.Asn444Lys
XM_011518147.1:c.660C>G XP_011516449.1:p.Asn220Lys
XR_929703.1:n.1964C>G
NM_001353193.1:c.1788C>G NP_001340122.1:p.Asn596Lys
NM_001353194.1:c.1560C>G NP_001340123.1:p.Asn520Lys
NM_001353195.1:c.1371C>G NP_001340124.1:p.Asn457Lys
NM_001353196.1:c.1632C>G NP_001340125.1:p.Asn544Lys
NM_001353197.1:c.1626C>G NP_001340126.1:p.Asn542Lys
NM_001353198.1:c.1626C>G NP_001340127.1:p.Asn542Lys
NM_001353199.1:c.1437C>G NP_001340128.1:p.Asn479Lys
NM_001353200.1:c.1266C>G NP_001340129.1:p.Asn422Lys
NR_148391.1:n.1772C>G
NR_148392.1:n.1990C>G
NR_148393.1:n.1911C>G
NR_148394.1:n.1665C>G
NR_148395.1:n.2063C>G
NR_148396.1:n.1697C>G
NR_148397.1:n.1822C>G
NR_148398.1:n.1777C>G
NR_148399.1:n.2303C>G
NR_148400.1:n.1902C>G
XM_005272162.3:c.591C>G XP_005272219.1:p.Asn197Lys
XM_006716932.2:c.1437C>G XP_006716995.1:p.Asn479Lys
XM_011518140.2:c.1641C>G XP_011516442.1:p.Asn547Lys
XM_011518141.2:c.1575C>G XP_011516443.1:p.Asn525Lys
XM_011518142.2:c.1479C>G XP_011516444.1:p.Asn493Lys
XM_011518143.2:c.1473C>G XP_011516445.1:p.Asn491Lys
XM_011518145.2:c.1332C>G XP_011516447.1:p.Asn444Lys
XM_017014205.2:c.591C>G XP_016869694.1:p.Asn197Lys
XM_024447380.1:c.591C>G XP_024303148.1:p.Asn197Lys
XM_024447381.1:c.897C>G XP_024303149.1:p.Asn299Lys
XM_024447382.1:c.591C>G XP_024303150.1:p.Asn197Lys
XR_001746160.2:n.1892C>G
XR_001746162.2:n.2097C>G
XR_001746164.1:n.1814C>G
XR_001746166.2:n.2109C>G
NM_001077365.2:c.1722C>G MANE Select NP_001070833.1:p.Asn574Lys
NM_001077366.2:c.1560C>G NP_001070834.1:p.Asn520Lys
NM_001136113.2:c.1722C>G NP_001129585.1:p.Asn574Lys
NM_001136114.2:c.1371C>G NP_001129586.1:p.Asn457Lys
NM_001353193.2:c.1788C>G NP_001340122.2:p.Asn596Lys
NM_001353194.2:c.1560C>G NP_001340123.1:p.Asn520Lys
NM_001353195.2:c.1371C>G NP_001340124.1:p.Asn457Lys
NM_001353196.2:c.1632C>G NP_001340125.1:p.Asn544Lys
NM_001353197.2:c.1626C>G NP_001340126.2:p.Asn542Lys
NM_001353198.2:c.1626C>G NP_001340127.2:p.Asn542Lys
NM_001353199.2:c.1437C>G NP_001340128.2:p.Asn479Lys
NM_001353200.2:c.1266C>G NP_001340129.1:p.Asn422Lys
NM_001374689.1:c.1710C>G NP_001361618.1:p.Asn570Lys
NM_001374690.1:c.1503C>G NP_001361619.1:p.Asn501Lys
NM_001374691.1:c.1371C>G NP_001361620.1:p.Asn457Lys
NM_001374692.1:c.1371C>G NP_001361621.1:p.Asn457Lys
NM_001374693.1:c.1371C>G NP_001361622.1:p.Asn457Lys
NM_001374695.1:c.1332C>G NP_001361624.1:p.Asn444Lys
NM_007171.4:c.1788C>G NP_009102.4:p.Asn596Lys
NR_148391.2:n.1756C>G
NR_148392.2:n.1974C>G
NR_148393.2:n.1895C>G
NR_148394.2:n.1649C>G
NR_148395.2:n.2047C>G
NR_148396.2:n.1681C>G
NR_148397.2:n.1806C>G
NR_148398.2:n.1761C>G
NR_148399.2:n.2287C>G
NR_148400.2:n.1886C>G