Canonical Allele Identifier: CA375315169
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523004C>G , CM000671.2:g.131523004C>G GRCh38
NC_000009.11:g.134398391C>G , CM000671.1:g.134398391C>G GRCh37
NC_000009.10:g.133388212C>G NCBI36
NG_008896.1:g.25103C>G
NG_008896.2:g.25103C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1914C>G ENSP00000343034.7:p.Asn638Lys
ENST00000404875.7:n.2616C>G
ENST00000423007.6:c.2133C>G ENSP00000404119.2:p.Asn711Lys
ENST00000677295.2:c.*2420C>G ENSP00000504346.2:n.*2420C>G
ENST00000678264.2:c.*2259C>G ENSP00000503157.2:n.*2259C>G
ENST00000682070.1:n.2386C>G
ENST00000682639.1:c.73C>G
ENST00000682813.1:n.2473C>G
ENST00000683231.1:c.73C>G
ENST00000683392.1:n.4668C>G
ENST00000683712.1:n.2481C>G
ENST00000683900.1:n.3976C>G
ENST00000684062.1:n.2742C>G
ENST00000684399.1:c.73C>G
ENST00000684579.1:n.3922C>G
ENST00000341012.12:c.1914C>G ENSP00000343034.7:p.Asn638Lys
ENST00000372220.5:c.945C>G ENSP00000361294.5:p.Asn315Lys
ENST00000372228.9:c.2142C>G ENSP00000361302.3:p.Asn714Lys
ENST00000402686.8:c.2076C>G MANE Select ENSP00000385797.4:p.Asn692Lys
ENST00000676640.1:c.2076C>G ENSP00000503281.1:p.Asn692Lys
ENST00000676803.1:c.1137C>G ENSP00000503093.1:p.Asn379Lys
ENST00000676835.1:c.*1291C>G ENSP00000502911.1:n.*1291C>G
ENST00000677029.1:c.1620C>G ENSP00000502936.1:p.Asn540Lys
ENST00000677099.1:c.*1786C>G ENSP00000504553.1:n.*1786C>G
ENST00000677216.1:c.1725C>G ENSP00000503772.1:p.Asn575Lys
ENST00000677221.1:n.1101C>G
ENST00000677295.1:c.*1298C>G ENSP00000504346.1:n.*1298C>G
ENST00000677444.1:c.2021C>G
ENST00000677586.1:n.1443C>G
ENST00000677626.1:c.1725C>G ENSP00000503552.1:p.Asn575Lys
ENST00000677853.1:c.*1084C>G ENSP00000503488.1:n.*1084C>G
ENST00000678264.1:c.*1453C>G ENSP00000503157.1:n.*1453C>G
ENST00000678303.1:c.1986C>G ENSP00000503696.1:p.Asn662Lys
ENST00000678366.1:c.*2325C>G ENSP00000504353.1:n.*2325C>G
ENST00000678546.1:c.*2021C>G ENSP00000503062.1:n.*2021C>G
ENST00000678548.1:c.*2215C>G ENSP00000503934.1:n.*2215C>G
ENST00000678626.1:n.1912C>G
ENST00000678739.1:c.*2242C>G ENSP00000503806.1:n.*2242C>G
ENST00000678833.1:c.*1828C>G ENSP00000503893.1:n.*1828C>G
ENST00000679023.1:c.1914C>G ENSP00000503718.1:p.Asn638Lys
ENST00000679076.1:c.1695C>G
ENST00000679111.1:c.*832C>G ENSP00000504257.1:n.*832C>G
ENST00000679189.1:c.1725C>G ENSP00000503356.1:p.Asn575Lys
ENST00000341012.11:c.1914C>G ENSP00000343034.7:p.Asn638Lys
ENST00000372220.4:c.939C>G ENSP00000361294.4:p.Asn313Lys
ENST00000372228.7:c.2142C>G ENSP00000361302.3:p.Asn714Lys
ENST00000402686.7:c.2076C>G ENSP00000385797.3:p.Asn692Lys
ENST00000404875.6:c.1725C>G ENSP00000384531.2:p.Asn575Lys
ENST00000423007.5:c.2076C>G ENSP00000404119.1:p.Asn692Lys
ENST00000485278.5:n.2626C>G
NM_001077365.1:c.2076C>G NP_001070833.1:p.Asn692Lys
NM_001077366.1:c.1914C>G NP_001070834.1:p.Asn638Lys
NM_001136113.1:c.2076C>G NP_001129585.1:p.Asn692Lys
NM_001136114.1:c.1725C>G NP_001129586.1:p.Asn575Lys
NM_007171.3:c.2142C>G NP_009102.3:p.Asn714Lys
XM_005272156.1:c.2142C>G XP_005272213.1:p.Asn714Lys
XM_005272158.1:c.1980C>G XP_005272215.1:p.Asn660Lys
XM_005272159.1:c.1791C>G XP_005272216.1:p.Asn597Lys
XM_005272162.1:c.945C>G XP_005272219.1:p.Asn315Lys
XM_006716932.1:c.1791C>G XP_006716995.1:p.Asn597Lys
XM_011518140.1:c.1995C>G XP_011516442.1:p.Asn665Lys
XM_011518141.1:c.1929C>G XP_011516443.1:p.Asn643Lys
XM_011518142.1:c.1833C>G XP_011516444.1:p.Asn611Lys
XM_011518143.1:c.1827C>G XP_011516445.1:p.Asn609Lys
XM_011518145.1:c.1686C>G XP_011516447.1:p.Asn562Lys
XM_011518147.1:c.1014C>G XP_011516449.1:p.Asn338Lys
XR_929703.1:n.2318C>G
NM_001353193.1:c.2142C>G NP_001340122.1:p.Asn714Lys
NM_001353194.1:c.1914C>G NP_001340123.1:p.Asn638Lys
NM_001353195.1:c.1725C>G NP_001340124.1:p.Asn575Lys
NM_001353196.1:c.1986C>G NP_001340125.1:p.Asn662Lys
NM_001353197.1:c.1980C>G NP_001340126.1:p.Asn660Lys
NM_001353198.1:c.1980C>G NP_001340127.1:p.Asn660Lys
NM_001353199.1:c.1791C>G NP_001340128.1:p.Asn597Lys
NM_001353200.1:c.1620C>G NP_001340129.1:p.Asn540Lys
NR_148391.1:n.2126C>G
NR_148392.1:n.2344C>G
NR_148393.1:n.2265C>G
NR_148394.1:n.2019C>G
NR_148395.1:n.2417C>G
NR_148396.1:n.2051C>G
NR_148397.1:n.2176C>G
NR_148398.1:n.2131C>G
NR_148399.1:n.2657C>G
NR_148400.1:n.2256C>G
XM_005272162.3:c.945C>G XP_005272219.1:p.Asn315Lys
XM_006716932.2:c.1791C>G XP_006716995.1:p.Asn597Lys
XM_011518140.2:c.1995C>G XP_011516442.1:p.Asn665Lys
XM_011518141.2:c.1929C>G XP_011516443.1:p.Asn643Lys
XM_011518142.2:c.1833C>G XP_011516444.1:p.Asn611Lys
XM_011518143.2:c.1827C>G XP_011516445.1:p.Asn609Lys
XM_011518145.2:c.1686C>G XP_011516447.1:p.Asn562Lys
XM_017014205.2:c.945C>G XP_016869694.1:p.Asn315Lys
XM_024447380.1:c.945C>G XP_024303148.1:p.Asn315Lys
XM_024447381.1:c.1251C>G XP_024303149.1:p.Asn417Lys
XM_024447382.1:c.945C>G XP_024303150.1:p.Asn315Lys
XR_001746160.2:n.2246C>G
XR_001746162.2:n.2451C>G
XR_001746164.1:n.2168C>G
XR_001746166.2:n.2463C>G
NM_001077365.2:c.2076C>G MANE Select NP_001070833.1:p.Asn692Lys
NM_001077366.2:c.1914C>G NP_001070834.1:p.Asn638Lys
NM_001136113.2:c.2076C>G NP_001129585.1:p.Asn692Lys
NM_001136114.2:c.1725C>G NP_001129586.1:p.Asn575Lys
NM_001353193.2:c.2142C>G NP_001340122.2:p.Asn714Lys
NM_001353194.2:c.1914C>G NP_001340123.1:p.Asn638Lys
NM_001353195.2:c.1725C>G NP_001340124.1:p.Asn575Lys
NM_001353196.2:c.1986C>G NP_001340125.1:p.Asn662Lys
NM_001353197.2:c.1980C>G NP_001340126.2:p.Asn660Lys
NM_001353198.2:c.1980C>G NP_001340127.2:p.Asn660Lys
NM_001353199.2:c.1791C>G NP_001340128.2:p.Asn597Lys
NM_001353200.2:c.1620C>G NP_001340129.1:p.Asn540Lys
NM_001374689.1:c.2064C>G NP_001361618.1:p.Asn688Lys
NM_001374690.1:c.1857C>G NP_001361619.1:p.Asn619Lys
NM_001374691.1:c.1725C>G NP_001361620.1:p.Asn575Lys
NM_001374692.1:c.1725C>G NP_001361621.1:p.Asn575Lys
NM_001374693.1:c.1725C>G NP_001361622.1:p.Asn575Lys
NM_001374695.1:c.1686C>G NP_001361624.1:p.Asn562Lys
NM_007171.4:c.2142C>G NP_009102.4:p.Asn714Lys
NR_148391.2:n.2110C>G
NR_148392.2:n.2328C>G
NR_148393.2:n.2249C>G
NR_148394.2:n.2003C>G
NR_148395.2:n.2401C>G
NR_148396.2:n.2035C>G
NR_148397.2:n.2160C>G
NR_148398.2:n.2115C>G
NR_148399.2:n.2641C>G
NR_148400.2:n.2240C>G