Canonical Allele Identifier: CA397432719
Community Standard Title: NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553060C>T , CM000678.2:g.89553060C>T GRCh38
NC_000016.9:g.89619468C>T , CM000678.1:g.89619468C>T GRCh37
NC_000016.8:g.88146969C>T NCBI36
NG_008082.1:g.49664C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1861C>T MANE Select NP_003110.1:p.Gln621Ter
ENST00000645818.2:c.1861C>T MANE Select ENSP00000495795.2:p.Gln621Ter
NM_001363850.1:c.1861C>T NP_001350779.1:p.Gln621Ter
NM_003119.3:c.1861C>T NP_003110.1:p.Gln621Ter
ENST00000268704.6:c.1861C>T ENSP00000268704.2:p.Gln621Ter
ENST00000268704.7:c.1840C>T ENSP00000268704.3:p.Gln614Ter
ENST00000561702.5:n.846C>T
ENST00000561702.6:n.2533C>T
ENST00000561911.5:c.406C>T ENSP00000457387.1:p.Gln136Ter
ENST00000565370.1:n.646C>T
ENST00000566221.5:c.715C>T
ENST00000566682.2:c.874C>T ENSP00000461979.2:p.Gln292Ter
ENST00000568205.1:n.156C>T
ENST00000569720.2:n.544C>T
ENST00000569820.5:c.1103C>T
ENST00000569820.6:c.2134C>T
ENST00000620811.4:c.625C>T ENSP00000478030.1:p.Gln209Ter
ENST00000642226.1:n.1924C>T
ENST00000642334.1:c.3279C>T
ENST00000642814.1:n.1276C>T
ENST00000642984.1:n.1584C>T
ENST00000643105.1:c.2567C>T
ENST00000643350.1:n.1275C>T
ENST00000643409.1:n.2286C>T
ENST00000643496.1:n.1678C>T
ENST00000643649.1:c.1750C>T ENSP00000494806.1:p.Gln584Ter
ENST00000643668.1:c.*2155C>T ENSP00000494903.1:n.*2155C>T
ENST00000643724.1:c.*909C>T ENSP00000496335.1:n.*909C>T
ENST00000643954.1:c.2760C>T
ENST00000644171.1:n.2621C>T
ENST00000644210.1:c.*433C>T ENSP00000495675.1:n.*433C>T
ENST00000644225.1:n.1878C>T
ENST00000644281.1:n.1887C>T
ENST00000644464.1:n.514C>T
ENST00000644498.1:c.*1680C>T ENSP00000496244.1:n.*1680C>T
ENST00000644671.1:c.1518C>T
ENST00000644751.1:c.1049C>T
ENST00000644781.1:c.1816C>T ENSP00000495473.1:p.Gln606Ter
ENST00000644901.1:c.*2255C>T ENSP00000493797.1:n.*2255C>T
ENST00000645042.1:c.*635C>T ENSP00000493908.1:n.*635C>T
ENST00000645063.1:c.1861C>T ENSP00000493590.1:p.Gln621Ter
ENST00000645354.1:c.2621C>T
ENST00000645392.1:n.2202C>T
ENST00000645742.1:n.495C>T
ENST00000645842.1:n.1706C>T
ENST00000645886.1:c.1366C>T
ENST00000645897.1:c.1399C>T ENSP00000495293.1:p.Gln467Ter
ENST00000645952.1:n.1726C>T
ENST00000645977.1:n.2979C>T
ENST00000646005.1:n.1619C>T
ENST00000646263.1:c.*734C>T ENSP00000494119.1:n.*734C>T
ENST00000646303.1:c.1729C>T ENSP00000494160.1:p.Gln577Ter
ENST00000646399.1:c.2755C>T
ENST00000646445.1:c.719C>T
ENST00000646531.1:c.*484C>T ENSP00000495185.1:n.*484C>T
ENST00000646589.1:c.*989C>T ENSP00000494739.1:n.*989C>T
ENST00000646716.1:c.913C>T ENSP00000495593.1:p.Gln305Ter
ENST00000646826.1:c.*534C>T ENSP00000495123.1:n.*534C>T
ENST00000646930.1:c.*1790C>T ENSP00000495219.1:n.*1790C>T
ENST00000647032.1:c.1476C>T
ENST00000647079.1:c.1453C>T ENSP00000495967.1:p.Gln485Ter
ENST00000647123.1:n.1818C>T
ENST00000647227.1:c.1499C>T
ENST00000647302.1:n.2511C>T
ENST00000647476.1:n.748C>T
ENST00000647491.1:n.1605C>T
XM_006721264.2:c.1861C>T XP_006721327.1:p.Gln621Ter
XM_006721264.4:c.1861C>T XP_006721327.1:p.Gln621Ter
XR_001751971.2:n.2210C>T
XR_001751972.2:n.3497C>T