Canonical Allele Identifier: CA375314415
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522130A>G , CM000671.2:g.131522130A>G GRCh38
NC_000009.11:g.134397517A>G , CM000671.1:g.134397517A>G GRCh37
NC_000009.10:g.133387338A>G NCBI36
NG_008896.1:g.24229A>G
NG_008896.2:g.24229A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1747A>G ENSP00000343034.7:p.Lys583Glu
ENST00000404875.7:n.2449A>G
ENST00000423007.6:c.1966A>G ENSP00000404119.2:p.Lys656Glu
ENST00000677295.2:c.*2253A>G ENSP00000504346.2:n.*2253A>G
ENST00000678264.2:c.*2092A>G ENSP00000503157.2:n.*2092A>G
ENST00000682070.1:n.2291-72A>G
ENST00000682813.1:n.2313A>G
ENST00000683392.1:n.4573-72A>G
ENST00000683712.1:n.2314A>G
ENST00000683900.1:n.3809A>G
ENST00000684062.1:n.2575A>G
ENST00000684579.1:n.3755A>G
ENST00000684679.1:n.1136A>G
ENST00000341012.12:c.1747A>G ENSP00000343034.7:p.Lys583Glu
ENST00000372220.5:c.778A>G ENSP00000361294.5:p.Lys260Glu
ENST00000372228.9:c.1975A>G ENSP00000361302.3:p.Lys659Glu
ENST00000402686.8:c.1909A>G MANE Select ENSP00000385797.4:p.Lys637Glu
ENST00000676640.1:c.1909A>G ENSP00000503281.1:p.Lys637Glu
ENST00000676803.1:c.970A>G ENSP00000503093.1:p.Lys324Glu
ENST00000676835.1:c.*1124A>G ENSP00000502911.1:n.*1124A>G
ENST00000677029.1:c.1453A>G ENSP00000502936.1:p.Lys485Glu
ENST00000677099.1:c.*1619A>G ENSP00000504553.1:n.*1619A>G
ENST00000677216.1:c.1558A>G ENSP00000503772.1:p.Lys520Glu
ENST00000677221.1:n.934A>G
ENST00000677295.1:c.*1203-72A>G ENSP00000504346.1:n.*1203-72A>G
ENST00000677444.1:c.1854A>G
ENST00000677586.1:n.1276A>G
ENST00000677626.1:c.1558A>G ENSP00000503552.1:p.Lys520Glu
ENST00000677853.1:c.*917A>G ENSP00000503488.1:n.*917A>G
ENST00000678202.1:n.1068A>G
ENST00000678264.1:c.*1286A>G ENSP00000503157.1:n.*1286A>G
ENST00000678303.1:c.1819A>G ENSP00000503696.1:p.Lys607Glu
ENST00000678366.1:c.*2158A>G ENSP00000504353.1:n.*2158A>G
ENST00000678546.1:c.*1854A>G ENSP00000503062.1:n.*1854A>G
ENST00000678548.1:c.*2048A>G ENSP00000503934.1:n.*2048A>G
ENST00000678626.1:n.1745A>G
ENST00000678739.1:c.*2147-72A>G ENSP00000503806.1:n.*2147-72A>G
ENST00000678833.1:c.*1661A>G ENSP00000503893.1:n.*1661A>G
ENST00000679023.1:c.1747A>G ENSP00000503718.1:p.Lys583Glu
ENST00000679076.1:c.1528A>G
ENST00000679111.1:c.*665A>G ENSP00000504257.1:n.*665A>G
ENST00000679189.1:c.1558A>G ENSP00000503356.1:p.Lys520Glu
ENST00000341012.11:c.1747A>G ENSP00000343034.7:p.Lys583Glu
ENST00000372220.4:c.772A>G ENSP00000361294.4:p.Lys258Glu
ENST00000372228.7:c.1975A>G ENSP00000361302.3:p.Lys659Glu
ENST00000402686.7:c.1909A>G ENSP00000385797.3:p.Lys637Glu
ENST00000404875.6:c.1558A>G ENSP00000384531.2:p.Lys520Glu
ENST00000423007.5:c.1909A>G ENSP00000404119.1:p.Lys637Glu
ENST00000485278.5:n.2459A>G
ENST00000494883.1:n.452A>G
NM_001077365.1:c.1909A>G NP_001070833.1:p.Lys637Glu
NM_001077366.1:c.1747A>G NP_001070834.1:p.Lys583Glu
NM_001136113.1:c.1909A>G NP_001129585.1:p.Lys637Glu
NM_001136114.1:c.1558A>G NP_001129586.1:p.Lys520Glu
NM_007171.3:c.1975A>G NP_009102.3:p.Lys659Glu
XM_005272156.1:c.1975A>G XP_005272213.1:p.Lys659Glu
XM_005272158.1:c.1813A>G XP_005272215.1:p.Lys605Glu
XM_005272159.1:c.1624A>G XP_005272216.1:p.Lys542Glu
XM_005272162.1:c.778A>G XP_005272219.1:p.Lys260Glu
XM_006716932.1:c.1624A>G XP_006716995.1:p.Lys542Glu
XM_011518140.1:c.1828A>G XP_011516442.1:p.Lys610Glu
XM_011518141.1:c.1762A>G XP_011516443.1:p.Lys588Glu
XM_011518142.1:c.1666A>G XP_011516444.1:p.Lys556Glu
XM_011518143.1:c.1660A>G XP_011516445.1:p.Lys554Glu
XM_011518145.1:c.1519A>G XP_011516447.1:p.Lys507Glu
XM_011518147.1:c.847A>G XP_011516449.1:p.Lys283Glu
XR_929703.1:n.2151A>G
NM_001353193.1:c.1975A>G NP_001340122.1:p.Lys659Glu
NM_001353194.1:c.1747A>G NP_001340123.1:p.Lys583Glu
NM_001353195.1:c.1558A>G NP_001340124.1:p.Lys520Glu
NM_001353196.1:c.1819A>G NP_001340125.1:p.Lys607Glu
NM_001353197.1:c.1813A>G NP_001340126.1:p.Lys605Glu
NM_001353198.1:c.1813A>G NP_001340127.1:p.Lys605Glu
NM_001353199.1:c.1624A>G NP_001340128.1:p.Lys542Glu
NM_001353200.1:c.1453A>G NP_001340129.1:p.Lys485Glu
NR_148391.1:n.1959A>G
NR_148392.1:n.2177A>G
NR_148393.1:n.2098A>G
NR_148394.1:n.1852A>G
NR_148395.1:n.2250A>G
NR_148396.1:n.1884A>G
NR_148397.1:n.2009A>G
NR_148398.1:n.1964A>G
NR_148399.1:n.2490A>G
NR_148400.1:n.2089A>G
XM_005272162.3:c.778A>G XP_005272219.1:p.Lys260Glu
XM_006716932.2:c.1624A>G XP_006716995.1:p.Lys542Glu
XM_011518140.2:c.1828A>G XP_011516442.1:p.Lys610Glu
XM_011518141.2:c.1762A>G XP_011516443.1:p.Lys588Glu
XM_011518142.2:c.1666A>G XP_011516444.1:p.Lys556Glu
XM_011518143.2:c.1660A>G XP_011516445.1:p.Lys554Glu
XM_011518145.2:c.1519A>G XP_011516447.1:p.Lys507Glu
XM_017014205.2:c.778A>G XP_016869694.1:p.Lys260Glu
XM_024447380.1:c.778A>G XP_024303148.1:p.Lys260Glu
XM_024447381.1:c.1084A>G XP_024303149.1:p.Lys362Glu
XM_024447382.1:c.778A>G XP_024303150.1:p.Lys260Glu
XR_001746160.2:n.2079A>G
XR_001746162.2:n.2284A>G
XR_001746164.1:n.2001A>G
XR_001746166.2:n.2296A>G
NM_001077365.2:c.1909A>G MANE Select NP_001070833.1:p.Lys637Glu
NM_001077366.2:c.1747A>G NP_001070834.1:p.Lys583Glu
NM_001136113.2:c.1909A>G NP_001129585.1:p.Lys637Glu
NM_001136114.2:c.1558A>G NP_001129586.1:p.Lys520Glu
NM_001353193.2:c.1975A>G NP_001340122.2:p.Lys659Glu
NM_001353194.2:c.1747A>G NP_001340123.1:p.Lys583Glu
NM_001353195.2:c.1558A>G NP_001340124.1:p.Lys520Glu
NM_001353196.2:c.1819A>G NP_001340125.1:p.Lys607Glu
NM_001353197.2:c.1813A>G NP_001340126.2:p.Lys605Glu
NM_001353198.2:c.1813A>G NP_001340127.2:p.Lys605Glu
NM_001353199.2:c.1624A>G NP_001340128.2:p.Lys542Glu
NM_001353200.2:c.1453A>G NP_001340129.1:p.Lys485Glu
NM_001374689.1:c.1897A>G NP_001361618.1:p.Lys633Glu
NM_001374690.1:c.1690A>G NP_001361619.1:p.Lys564Glu
NM_001374691.1:c.1558A>G NP_001361620.1:p.Lys520Glu
NM_001374692.1:c.1558A>G NP_001361621.1:p.Lys520Glu
NM_001374693.1:c.1558A>G NP_001361622.1:p.Lys520Glu
NM_001374695.1:c.1519A>G NP_001361624.1:p.Lys507Glu
NM_007171.4:c.1975A>G NP_009102.4:p.Lys659Glu
NR_148391.2:n.1943A>G
NR_148392.2:n.2161A>G
NR_148393.2:n.2082A>G
NR_148394.2:n.1836A>G
NR_148395.2:n.2234A>G
NR_148396.2:n.1868A>G
NR_148397.2:n.1993A>G
NR_148398.2:n.1948A>G
NR_148399.2:n.2474A>G
NR_148400.2:n.2073A>G