Canonical Allele Identifier: CA375314458
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522141C>G , CM000671.2:g.131522141C>G GRCh38
NC_000009.11:g.134397528C>G , CM000671.1:g.134397528C>G GRCh37
NC_000009.10:g.133387349C>G NCBI36
NG_008896.1:g.24240C>G
NG_008896.2:g.24240C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1758C>G ENSP00000343034.7:p.Phe586Leu
ENST00000404875.7:n.2460C>G
ENST00000423007.6:c.1977C>G ENSP00000404119.2:p.Phe659Leu
ENST00000677295.2:c.*2264C>G ENSP00000504346.2:n.*2264C>G
ENST00000678264.2:c.*2103C>G ENSP00000503157.2:n.*2103C>G
ENST00000682070.1:n.2291-61C>G
ENST00000682813.1:n.2324C>G
ENST00000683392.1:n.4573-61C>G
ENST00000683712.1:n.2325C>G
ENST00000683900.1:n.3820C>G
ENST00000684062.1:n.2586C>G
ENST00000684579.1:n.3766C>G
ENST00000684679.1:n.1147C>G
ENST00000341012.12:c.1758C>G ENSP00000343034.7:p.Phe586Leu
ENST00000372220.5:c.789C>G ENSP00000361294.5:p.Phe263Leu
ENST00000372228.9:c.1986C>G ENSP00000361302.3:p.Phe662Leu
ENST00000402686.8:c.1920C>G MANE Select ENSP00000385797.4:p.Phe640Leu
ENST00000676640.1:c.1920C>G ENSP00000503281.1:p.Phe640Leu
ENST00000676803.1:c.981C>G ENSP00000503093.1:p.Phe327Leu
ENST00000676835.1:c.*1135C>G ENSP00000502911.1:n.*1135C>G
ENST00000677029.1:c.1464C>G ENSP00000502936.1:p.Phe488Leu
ENST00000677099.1:c.*1630C>G ENSP00000504553.1:n.*1630C>G
ENST00000677216.1:c.1569C>G ENSP00000503772.1:p.Phe523Leu
ENST00000677221.1:n.945C>G
ENST00000677295.1:c.*1203-61C>G ENSP00000504346.1:n.*1203-61C>G
ENST00000677444.1:c.1865C>G
ENST00000677586.1:n.1287C>G
ENST00000677626.1:c.1569C>G ENSP00000503552.1:p.Phe523Leu
ENST00000677853.1:c.*928C>G ENSP00000503488.1:n.*928C>G
ENST00000678202.1:n.1079C>G
ENST00000678264.1:c.*1297C>G ENSP00000503157.1:n.*1297C>G
ENST00000678303.1:c.1830C>G ENSP00000503696.1:p.Phe610Leu
ENST00000678366.1:c.*2169C>G ENSP00000504353.1:n.*2169C>G
ENST00000678546.1:c.*1865C>G ENSP00000503062.1:n.*1865C>G
ENST00000678548.1:c.*2059C>G ENSP00000503934.1:n.*2059C>G
ENST00000678626.1:n.1756C>G
ENST00000678739.1:c.*2147-61C>G ENSP00000503806.1:n.*2147-61C>G
ENST00000678833.1:c.*1672C>G ENSP00000503893.1:n.*1672C>G
ENST00000679023.1:c.1758C>G ENSP00000503718.1:p.Phe586Leu
ENST00000679076.1:c.1539C>G
ENST00000679111.1:c.*676C>G ENSP00000504257.1:n.*676C>G
ENST00000679189.1:c.1569C>G ENSP00000503356.1:p.Phe523Leu
ENST00000341012.11:c.1758C>G ENSP00000343034.7:p.Phe586Leu
ENST00000372220.4:c.783C>G ENSP00000361294.4:p.Phe261Leu
ENST00000372228.7:c.1986C>G ENSP00000361302.3:p.Phe662Leu
ENST00000402686.7:c.1920C>G ENSP00000385797.3:p.Phe640Leu
ENST00000404875.6:c.1569C>G ENSP00000384531.2:p.Phe523Leu
ENST00000423007.5:c.1920C>G ENSP00000404119.1:p.Phe640Leu
ENST00000485278.5:n.2470C>G
ENST00000494883.1:n.463C>G
NM_001077365.1:c.1920C>G NP_001070833.1:p.Phe640Leu
NM_001077366.1:c.1758C>G NP_001070834.1:p.Phe586Leu
NM_001136113.1:c.1920C>G NP_001129585.1:p.Phe640Leu
NM_001136114.1:c.1569C>G NP_001129586.1:p.Phe523Leu
NM_007171.3:c.1986C>G NP_009102.3:p.Phe662Leu
XM_005272156.1:c.1986C>G XP_005272213.1:p.Phe662Leu
XM_005272158.1:c.1824C>G XP_005272215.1:p.Phe608Leu
XM_005272159.1:c.1635C>G XP_005272216.1:p.Phe545Leu
XM_005272162.1:c.789C>G XP_005272219.1:p.Phe263Leu
XM_006716932.1:c.1635C>G XP_006716995.1:p.Phe545Leu
XM_011518140.1:c.1839C>G XP_011516442.1:p.Phe613Leu
XM_011518141.1:c.1773C>G XP_011516443.1:p.Phe591Leu
XM_011518142.1:c.1677C>G XP_011516444.1:p.Phe559Leu
XM_011518143.1:c.1671C>G XP_011516445.1:p.Phe557Leu
XM_011518145.1:c.1530C>G XP_011516447.1:p.Phe510Leu
XM_011518147.1:c.858C>G XP_011516449.1:p.Phe286Leu
XR_929703.1:n.2162C>G
NM_001353193.1:c.1986C>G NP_001340122.1:p.Phe662Leu
NM_001353194.1:c.1758C>G NP_001340123.1:p.Phe586Leu
NM_001353195.1:c.1569C>G NP_001340124.1:p.Phe523Leu
NM_001353196.1:c.1830C>G NP_001340125.1:p.Phe610Leu
NM_001353197.1:c.1824C>G NP_001340126.1:p.Phe608Leu
NM_001353198.1:c.1824C>G NP_001340127.1:p.Phe608Leu
NM_001353199.1:c.1635C>G NP_001340128.1:p.Phe545Leu
NM_001353200.1:c.1464C>G NP_001340129.1:p.Phe488Leu
NR_148391.1:n.1970C>G
NR_148392.1:n.2188C>G
NR_148393.1:n.2109C>G
NR_148394.1:n.1863C>G
NR_148395.1:n.2261C>G
NR_148396.1:n.1895C>G
NR_148397.1:n.2020C>G
NR_148398.1:n.1975C>G
NR_148399.1:n.2501C>G
NR_148400.1:n.2100C>G
XM_005272162.3:c.789C>G XP_005272219.1:p.Phe263Leu
XM_006716932.2:c.1635C>G XP_006716995.1:p.Phe545Leu
XM_011518140.2:c.1839C>G XP_011516442.1:p.Phe613Leu
XM_011518141.2:c.1773C>G XP_011516443.1:p.Phe591Leu
XM_011518142.2:c.1677C>G XP_011516444.1:p.Phe559Leu
XM_011518143.2:c.1671C>G XP_011516445.1:p.Phe557Leu
XM_011518145.2:c.1530C>G XP_011516447.1:p.Phe510Leu
XM_017014205.2:c.789C>G XP_016869694.1:p.Phe263Leu
XM_024447380.1:c.789C>G XP_024303148.1:p.Phe263Leu
XM_024447381.1:c.1095C>G XP_024303149.1:p.Phe365Leu
XM_024447382.1:c.789C>G XP_024303150.1:p.Phe263Leu
XR_001746160.2:n.2090C>G
XR_001746162.2:n.2295C>G
XR_001746164.1:n.2012C>G
XR_001746166.2:n.2307C>G
NM_001077365.2:c.1920C>G MANE Select NP_001070833.1:p.Phe640Leu
NM_001077366.2:c.1758C>G NP_001070834.1:p.Phe586Leu
NM_001136113.2:c.1920C>G NP_001129585.1:p.Phe640Leu
NM_001136114.2:c.1569C>G NP_001129586.1:p.Phe523Leu
NM_001353193.2:c.1986C>G NP_001340122.2:p.Phe662Leu
NM_001353194.2:c.1758C>G NP_001340123.1:p.Phe586Leu
NM_001353195.2:c.1569C>G NP_001340124.1:p.Phe523Leu
NM_001353196.2:c.1830C>G NP_001340125.1:p.Phe610Leu
NM_001353197.2:c.1824C>G NP_001340126.2:p.Phe608Leu
NM_001353198.2:c.1824C>G NP_001340127.2:p.Phe608Leu
NM_001353199.2:c.1635C>G NP_001340128.2:p.Phe545Leu
NM_001353200.2:c.1464C>G NP_001340129.1:p.Phe488Leu
NM_001374689.1:c.1908C>G NP_001361618.1:p.Phe636Leu
NM_001374690.1:c.1701C>G NP_001361619.1:p.Phe567Leu
NM_001374691.1:c.1569C>G NP_001361620.1:p.Phe523Leu
NM_001374692.1:c.1569C>G NP_001361621.1:p.Phe523Leu
NM_001374693.1:c.1569C>G NP_001361622.1:p.Phe523Leu
NM_001374695.1:c.1530C>G NP_001361624.1:p.Phe510Leu
NM_007171.4:c.1986C>G NP_009102.4:p.Phe662Leu
NR_148391.2:n.1954C>G
NR_148392.2:n.2172C>G
NR_148393.2:n.2093C>G
NR_148394.2:n.1847C>G
NR_148395.2:n.2245C>G
NR_148396.2:n.1879C>G
NR_148397.2:n.2004C>G
NR_148398.2:n.1959C>G
NR_148399.2:n.2485C>G
NR_148400.2:n.2084C>G