Canonical Allele Identifier: CA5293362
Community Standard Title: NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131509930C>G , CM000671.2:g.131509930C>G GRCh38
NC_000009.11:g.134385317C>G , CM000671.1:g.134385317C>G GRCh37
NC_000009.10:g.133375138C>G NCBI36
NG_008896.1:g.12029C>G
NG_008896.2:g.12029C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001077365.2:c.633C>G MANE Select NP_001070833.1:p.Tyr211Ter
ENST00000402686.8:c.633C>G MANE Select ENSP00000385797.4:p.Tyr211Ter
NM_001077365.1:c.633C>G NP_001070833.1:p.Tyr211Ter
NM_001077366.1:c.471C>G NP_001070834.1:p.Tyr157Ter
NM_001077366.2:c.471C>G NP_001070834.1:p.Tyr157Ter
NM_001136113.1:c.633C>G NP_001129585.1:p.Tyr211Ter
NM_001136113.2:c.633C>G NP_001129585.1:p.Tyr211Ter
NM_001136114.1:c.282C>G NP_001129586.1:p.Tyr94Ter
NM_001136114.2:c.282C>G NP_001129586.1:p.Tyr94Ter
NM_001353193.1:c.633C>G NP_001340122.1:p.Tyr211Ter
NM_001353193.2:c.633C>G NP_001340122.2:p.Tyr211Ter
NM_001353194.1:c.471C>G NP_001340123.1:p.Tyr157Ter
NM_001353194.2:c.471C>G NP_001340123.1:p.Tyr157Ter
NM_001353195.1:c.282C>G NP_001340124.1:p.Tyr94Ter
NM_001353195.2:c.282C>G NP_001340124.1:p.Tyr94Ter
NM_001353196.1:c.543C>G NP_001340125.1:p.Tyr181Ter
NM_001353196.2:c.543C>G NP_001340125.1:p.Tyr181Ter
NM_001353197.1:c.471C>G NP_001340126.1:p.Tyr157Ter
NM_001353197.2:c.471C>G NP_001340126.2:p.Tyr157Ter
NM_001353198.1:c.471C>G NP_001340127.1:p.Tyr157Ter
NM_001353198.2:c.471C>G NP_001340127.2:p.Tyr157Ter
NM_001353199.1:c.282C>G NP_001340128.1:p.Tyr94Ter
NM_001353199.2:c.282C>G NP_001340128.2:p.Tyr94Ter
NM_001353200.1:c.177C>G NP_001340129.1:p.Tyr59Ter
NM_001353200.2:c.177C>G NP_001340129.1:p.Tyr59Ter
NM_001374689.1:c.471C>G NP_001361618.1:p.Tyr157Ter
NM_001374690.1:c.633C>G NP_001361619.1:p.Tyr211Ter
NM_001374691.1:c.282C>G NP_001361620.1:p.Tyr94Ter
NM_001374692.1:c.282C>G NP_001361621.1:p.Tyr94Ter
NM_001374693.1:c.471C>G NP_001361622.1:p.Tyr157Ter
NM_001374695.1:c.177C>G NP_001361624.1:p.Tyr59Ter
NM_007171.3:c.633C>G NP_009102.3:p.Tyr211Ter
NM_007171.4:c.633C>G NP_009102.4:p.Tyr211Ter
NR_148391.1:n.683C>G
NR_148391.2:n.667C>G
NR_148392.1:n.835C>G
NR_148392.2:n.819C>G
NR_148393.1:n.683C>G
NR_148393.2:n.667C>G
NR_148394.1:n.571C>G
NR_148394.2:n.555C>G
NR_148395.1:n.835C>G
NR_148395.2:n.819C>G
NR_148396.1:n.464C>G
NR_148396.2:n.448C>G
NR_148397.1:n.728C>G
NR_148397.2:n.712C>G
NR_148398.1:n.683C>G
NR_148398.2:n.667C>G
NR_148399.1:n.1075C>G
NR_148399.2:n.1059C>G
NR_148400.1:n.669C>G
NR_148400.2:n.653C>G
ENST00000341012.11:c.471C>G ENSP00000343034.7:p.Tyr157Ter
ENST00000341012.12:c.471C>G ENSP00000343034.7:p.Tyr157Ter
ENST00000341012.13:c.471C>G ENSP00000343034.7:p.Tyr157Ter
ENST00000372220.5:c.-145-2111C>G ENSP00000361294.5:n.-145-2111C>G
ENST00000372228.7:c.633C>G ENSP00000361302.3:p.Tyr211Ter
ENST00000372228.9:c.633C>G ENSP00000361302.3:p.Tyr211Ter
ENST00000402686.7:c.633C>G ENSP00000385797.3:p.Tyr211Ter
ENST00000404875.6:c.282C>G ENSP00000384531.2:p.Tyr94Ter
ENST00000404875.7:n.742C>G
ENST00000415075.5:c.189-427C>G ENSP00000405149.1:n.189-427C>G
ENST00000415075.6:c.*250-427C>G ENSP00000405149.2:n.*250-427C>G
ENST00000423007.5:c.633C>G ENSP00000404119.1:p.Tyr211Ter
ENST00000423007.6:c.624C>G ENSP00000404119.2:p.Tyr208Ter
ENST00000430619.1:c.282C>G ENSP00000402083.1:p.Tyr94Ter
ENST00000430619.2:c.177C>G ENSP00000402083.2:p.Tyr59Ter
ENST00000441334.5:c.282C>G ENSP00000395060.1:p.Tyr94Ter
ENST00000448212.5:c.471C>G ENSP00000403736.1:p.Tyr157Ter
ENST00000462375.5:n.191C>G
ENST00000462375.6:n.457C>G
ENST00000462375.7:n.140C>G
ENST00000676640.1:c.633C>G ENSP00000503281.1:p.Tyr211Ter
ENST00000676803.1:c.-126-330C>G ENSP00000503093.1:n.-126-330C>G
ENST00000676835.1:c.189-330C>G ENSP00000502911.1:n.189-330C>G
ENST00000676915.1:c.486C>G ENSP00000504628.1:p.Tyr162Ter
ENST00000677028.1:c.*80C>G ENSP00000503896.1:n.*80C>G
ENST00000677029.1:c.177C>G ENSP00000502936.1:p.Tyr59Ter
ENST00000677099.1:c.*343C>G ENSP00000504553.1:n.*343C>G
ENST00000677216.1:c.282C>G ENSP00000503772.1:p.Tyr94Ter
ENST00000677293.1:c.-29-427C>G ENSP00000504278.1:n.-29-427C>G
ENST00000677295.1:c.471C>G ENSP00000504346.1:p.Tyr157Ter
ENST00000677295.2:c.*709C>G ENSP00000504346.2:n.*709C>G
ENST00000677444.1:c.176C>G
ENST00000677586.1:n.181-330C>G
ENST00000677626.1:c.471C>G ENSP00000503552.1:p.Tyr157Ter
ENST00000677677.1:n.593C>G
ENST00000677729.1:c.*80C>G ENSP00000503581.1:n.*80C>G
ENST00000677853.1:c.378-427C>G ENSP00000503488.1:n.378-427C>G
ENST00000677944.1:c.59-427C>G
ENST00000678264.1:c.633C>G ENSP00000503157.1:p.Tyr211Ter
ENST00000678264.2:c.*816C>G ENSP00000503157.2:n.*816C>G
ENST00000678303.1:c.543C>G ENSP00000503696.1:p.Tyr181Ter
ENST00000678366.1:c.*816C>G ENSP00000504353.1:n.*816C>G
ENST00000678546.1:c.471C>G ENSP00000503062.1:p.Tyr157Ter
ENST00000678548.1:c.*437C>G ENSP00000503934.1:n.*437C>G
ENST00000678626.1:n.325C>G
ENST00000678693.1:n.316C>G
ENST00000678707.1:n.271C>G
ENST00000678739.1:c.*691C>G ENSP00000503806.1:n.*691C>G
ENST00000678833.1:c.*80C>G ENSP00000503893.1:n.*80C>G
ENST00000678942.2:c.328C>G ENSP00000504690.2:p.Arg110Gly
ENST00000679023.1:c.471C>G ENSP00000503718.1:p.Tyr157Ter
ENST00000679076.1:c.344C>G
ENST00000679111.1:c.633C>G ENSP00000504257.1:p.Tyr211Ter
ENST00000679189.1:c.282C>G ENSP00000503356.1:p.Tyr94Ter
ENST00000682070.1:n.830C>G
ENST00000682813.1:n.635C>G
ENST00000683134.1:c.66+122C>G
ENST00000683392.1:n.3117C>G
ENST00000683712.1:n.770C>G
ENST00000683855.1:n.28C>G
ENST00000683900.1:n.1697C>G
ENST00000684062.1:n.1036C>G
ENST00000684579.1:n.2211C>G
XM_005272156.1:c.633C>G XP_005272213.1:p.Tyr211Ter
XM_005272158.1:c.471C>G XP_005272215.1:p.Tyr157Ter
XM_005272159.1:c.282C>G XP_005272216.1:p.Tyr94Ter
XM_005272162.1:c.-767C>G XP_005272219.1:n.-767C>G
XM_005272162.3:c.-767C>G XP_005272219.1:n.-767C>G
XM_006716932.1:c.282C>G XP_006716995.1:p.Tyr94Ter
XM_006716932.2:c.282C>G XP_006716995.1:p.Tyr94Ter
XM_011518140.1:c.486C>G XP_011516442.1:p.Tyr162Ter
XM_011518140.2:c.486C>G XP_011516442.1:p.Tyr162Ter
XM_011518141.1:c.486C>G XP_011516443.1:p.Tyr162Ter
XM_011518141.2:c.486C>G XP_011516443.1:p.Tyr162Ter
XM_011518142.1:c.324C>G XP_011516444.1:p.Tyr108Ter
XM_011518142.2:c.324C>G XP_011516444.1:p.Tyr108Ter
XM_011518143.1:c.379C>G XP_011516445.1:p.Arg127Gly
XM_011518143.2:c.379C>G XP_011516445.1:p.Arg127Gly
XM_011518144.1:c.633C>G XP_011516446.1:p.Tyr211Ter
XM_011518145.1:c.177C>G XP_011516447.1:p.Tyr59Ter
XM_011518145.2:c.177C>G XP_011516447.1:p.Tyr59Ter
XM_011518146.1:c.379C>G XP_011516448.1:p.Arg127Gly
XM_017014205.2:c.-570C>G XP_016869694.1:n.-570C>G
XM_024447380.1:c.-504C>G XP_024303148.1:n.-504C>G
XM_024447381.1:c.-456C>G XP_024303149.1:n.-456C>G
XM_024447382.1:c.-767C>G XP_024303150.1:n.-767C>G
XR_001746160.2:n.803C>G
XR_001746162.2:n.803C>G
XR_001746164.1:n.581C>G
XR_001746166.2:n.757C>G
XR_929703.1:n.809C>G