Canonical Allele Identifier: CA375315331
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523053C>G , CM000671.2:g.131523053C>G GRCh38
NC_000009.11:g.134398440C>G , CM000671.1:g.134398440C>G GRCh37
NC_000009.10:g.133388261C>G NCBI36
NG_008896.1:g.25152C>G
NG_008896.2:g.25152C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1963C>G ENSP00000343034.7:p.Leu655Val
ENST00000404875.7:n.2665C>G
ENST00000423007.6:c.2182C>G ENSP00000404119.2:p.Leu728Val
ENST00000677295.2:c.*2469C>G ENSP00000504346.2:n.*2469C>G
ENST00000678264.2:c.*2308C>G ENSP00000503157.2:n.*2308C>G
ENST00000682070.1:n.2435C>G
ENST00000682639.1:c.122C>G
ENST00000682813.1:n.2522C>G
ENST00000683231.1:c.122C>G
ENST00000683392.1:n.4717C>G
ENST00000683712.1:n.2530C>G
ENST00000683900.1:n.4025C>G
ENST00000684062.1:n.2791C>G
ENST00000684399.1:c.122C>G
ENST00000684579.1:n.3971C>G
ENST00000341012.12:c.1963C>G ENSP00000343034.7:p.Leu655Val
ENST00000372220.5:c.994C>G ENSP00000361294.5:p.Leu332Val
ENST00000372228.9:c.2191C>G ENSP00000361302.3:p.Leu731Val
ENST00000402686.8:c.2125C>G MANE Select ENSP00000385797.4:p.Leu709Val
ENST00000676640.1:c.2125C>G ENSP00000503281.1:p.Leu709Val
ENST00000676803.1:c.1186C>G ENSP00000503093.1:p.Leu396Val
ENST00000676835.1:c.*1340C>G ENSP00000502911.1:n.*1340C>G
ENST00000677029.1:c.1669C>G ENSP00000502936.1:p.Leu557Val
ENST00000677099.1:c.*1835C>G ENSP00000504553.1:n.*1835C>G
ENST00000677216.1:c.1774C>G ENSP00000503772.1:p.Leu592Val
ENST00000677295.1:c.*1347C>G ENSP00000504346.1:n.*1347C>G
ENST00000677444.1:c.2070C>G
ENST00000677586.1:n.1492C>G
ENST00000677626.1:c.1774C>G ENSP00000503552.1:p.Leu592Val
ENST00000677853.1:c.*1133C>G ENSP00000503488.1:n.*1133C>G
ENST00000678264.1:c.*1502C>G ENSP00000503157.1:n.*1502C>G
ENST00000678303.1:c.2035C>G ENSP00000503696.1:p.Leu679Val
ENST00000678366.1:c.*2374C>G ENSP00000504353.1:n.*2374C>G
ENST00000678546.1:c.*2070C>G ENSP00000503062.1:n.*2070C>G
ENST00000678548.1:c.*2264C>G ENSP00000503934.1:n.*2264C>G
ENST00000678626.1:n.1961C>G
ENST00000678739.1:c.*2291C>G ENSP00000503806.1:n.*2291C>G
ENST00000678833.1:c.*1877C>G ENSP00000503893.1:n.*1877C>G
ENST00000679023.1:c.1963C>G ENSP00000503718.1:p.Leu655Val
ENST00000679076.1:c.1744C>G
ENST00000679111.1:c.*881C>G ENSP00000504257.1:n.*881C>G
ENST00000679189.1:c.1774C>G ENSP00000503356.1:p.Leu592Val
ENST00000341012.11:c.1963C>G ENSP00000343034.7:p.Leu655Val
ENST00000372220.4:c.988C>G ENSP00000361294.4:p.Leu330Val
ENST00000372228.7:c.2191C>G ENSP00000361302.3:p.Leu731Val
ENST00000402686.7:c.2125C>G ENSP00000385797.3:p.Leu709Val
ENST00000404875.6:c.1774C>G ENSP00000384531.2:p.Leu592Val
ENST00000423007.5:c.2125C>G ENSP00000404119.1:p.Leu709Val
ENST00000485278.5:n.2675C>G
NM_001077365.1:c.2125C>G NP_001070833.1:p.Leu709Val
NM_001077366.1:c.1963C>G NP_001070834.1:p.Leu655Val
NM_001136113.1:c.2125C>G NP_001129585.1:p.Leu709Val
NM_001136114.1:c.1774C>G NP_001129586.1:p.Leu592Val
NM_007171.3:c.2191C>G NP_009102.3:p.Leu731Val
XM_005272156.1:c.2191C>G XP_005272213.1:p.Leu731Val
XM_005272158.1:c.2029C>G XP_005272215.1:p.Leu677Val
XM_005272159.1:c.1840C>G XP_005272216.1:p.Leu614Val
XM_005272162.1:c.994C>G XP_005272219.1:p.Leu332Val
XM_006716932.1:c.1840C>G XP_006716995.1:p.Leu614Val
XM_011518140.1:c.2044C>G XP_011516442.1:p.Leu682Val
XM_011518141.1:c.1978C>G XP_011516443.1:p.Leu660Val
XM_011518142.1:c.1882C>G XP_011516444.1:p.Leu628Val
XM_011518143.1:c.1876C>G XP_011516445.1:p.Leu626Val
XM_011518145.1:c.1735C>G XP_011516447.1:p.Leu579Val
XM_011518147.1:c.1063C>G XP_011516449.1:p.Leu355Val
XR_929703.1:n.2367C>G
NM_001353193.1:c.2191C>G NP_001340122.1:p.Leu731Val
NM_001353194.1:c.1963C>G NP_001340123.1:p.Leu655Val
NM_001353195.1:c.1774C>G NP_001340124.1:p.Leu592Val
NM_001353196.1:c.2035C>G NP_001340125.1:p.Leu679Val
NM_001353197.1:c.2029C>G NP_001340126.1:p.Leu677Val
NM_001353198.1:c.2029C>G NP_001340127.1:p.Leu677Val
NM_001353199.1:c.1840C>G NP_001340128.1:p.Leu614Val
NM_001353200.1:c.1669C>G NP_001340129.1:p.Leu557Val
NR_148391.1:n.2175C>G
NR_148392.1:n.2393C>G
NR_148393.1:n.2314C>G
NR_148394.1:n.2068C>G
NR_148395.1:n.2466C>G
NR_148396.1:n.2100C>G
NR_148397.1:n.2225C>G
NR_148398.1:n.2180C>G
NR_148399.1:n.2706C>G
NR_148400.1:n.2305C>G
XM_005272162.3:c.994C>G XP_005272219.1:p.Leu332Val
XM_006716932.2:c.1840C>G XP_006716995.1:p.Leu614Val
XM_011518140.2:c.2044C>G XP_011516442.1:p.Leu682Val
XM_011518141.2:c.1978C>G XP_011516443.1:p.Leu660Val
XM_011518142.2:c.1882C>G XP_011516444.1:p.Leu628Val
XM_011518143.2:c.1876C>G XP_011516445.1:p.Leu626Val
XM_011518145.2:c.1735C>G XP_011516447.1:p.Leu579Val
XM_017014205.2:c.994C>G XP_016869694.1:p.Leu332Val
XM_024447380.1:c.994C>G XP_024303148.1:p.Leu332Val
XM_024447381.1:c.1300C>G XP_024303149.1:p.Leu434Val
XM_024447382.1:c.994C>G XP_024303150.1:p.Leu332Val
XR_001746160.2:n.2295C>G
XR_001746162.2:n.2500C>G
XR_001746164.1:n.2217C>G
XR_001746166.2:n.2512C>G
NM_001077365.2:c.2125C>G MANE Select NP_001070833.1:p.Leu709Val
NM_001077366.2:c.1963C>G NP_001070834.1:p.Leu655Val
NM_001136113.2:c.2125C>G NP_001129585.1:p.Leu709Val
NM_001136114.2:c.1774C>G NP_001129586.1:p.Leu592Val
NM_001353193.2:c.2191C>G NP_001340122.2:p.Leu731Val
NM_001353194.2:c.1963C>G NP_001340123.1:p.Leu655Val
NM_001353195.2:c.1774C>G NP_001340124.1:p.Leu592Val
NM_001353196.2:c.2035C>G NP_001340125.1:p.Leu679Val
NM_001353197.2:c.2029C>G NP_001340126.2:p.Leu677Val
NM_001353198.2:c.2029C>G NP_001340127.2:p.Leu677Val
NM_001353199.2:c.1840C>G NP_001340128.2:p.Leu614Val
NM_001353200.2:c.1669C>G NP_001340129.1:p.Leu557Val
NM_001374689.1:c.2113C>G NP_001361618.1:p.Leu705Val
NM_001374690.1:c.1906C>G NP_001361619.1:p.Leu636Val
NM_001374691.1:c.1774C>G NP_001361620.1:p.Leu592Val
NM_001374692.1:c.1774C>G NP_001361621.1:p.Leu592Val
NM_001374693.1:c.1774C>G NP_001361622.1:p.Leu592Val
NM_001374695.1:c.1735C>G NP_001361624.1:p.Leu579Val
NM_007171.4:c.2191C>G NP_009102.4:p.Leu731Val
NR_148391.2:n.2159C>G
NR_148392.2:n.2377C>G
NR_148393.2:n.2298C>G
NR_148394.2:n.2052C>G
NR_148395.2:n.2450C>G
NR_148396.2:n.2084C>G
NR_148397.2:n.2209C>G
NR_148398.2:n.2164C>G
NR_148399.2:n.2690C>G
NR_148400.2:n.2289C>G