Canonical Allele Identifier: CA397433455
Community Standard Title: NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553797C>T , CM000678.2:g.89553797C>T GRCh38
NC_000016.9:g.89620205C>T , CM000678.1:g.89620205C>T GRCh37
NC_000016.8:g.88147706C>T NCBI36
NG_008082.1:g.50401C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1940C>T MANE Select NP_003110.1:p.Ala647Val
ENST00000645818.2:c.1940C>T MANE Select ENSP00000495795.2:p.Ala647Val
NM_001363850.1:c.1940C>T NP_001350779.1:p.Ala647Val
NM_003119.3:c.1940C>T NP_003110.1:p.Ala647Val
ENST00000268704.6:c.1940C>T ENSP00000268704.2:p.Ala647Val
ENST00000268704.7:c.1919C>T ENSP00000268704.3:p.Ala640Val
ENST00000561702.5:n.925C>T
ENST00000561702.6:n.2612C>T
ENST00000561911.5:c.540C>T ENSP00000457387.1:p.Gly180=
ENST00000566682.1:c.76C>T
ENST00000566682.2:c.981C>T ENSP00000461979.2:p.Gly327=
ENST00000569720.1:n.131C>T
ENST00000569720.2:n.623C>T
ENST00000569820.5:c.1182C>T
ENST00000569820.6:c.2213C>T
ENST00000620811.4:c.703C>T ENSP00000478030.1:p.His235Tyr
ENST00000642226.1:n.2003C>T
ENST00000642334.1:c.3358C>T
ENST00000642814.1:n.1355C>T
ENST00000642984.1:n.1663C>T
ENST00000643105.1:c.2646C>T
ENST00000643350.1:n.1354C>T
ENST00000643409.1:n.2365C>T
ENST00000643496.1:n.1757C>T
ENST00000643649.1:c.1829C>T ENSP00000494806.1:p.Ala610Val
ENST00000643668.1:c.*2234C>T ENSP00000494903.1:n.*2234C>T
ENST00000643724.1:c.*988C>T ENSP00000496335.1:n.*988C>T
ENST00000643954.1:c.2839C>T
ENST00000644171.1:n.2700C>T
ENST00000644210.1:c.*512C>T ENSP00000495675.1:n.*512C>T
ENST00000644225.1:n.1957C>T
ENST00000644281.1:n.2624C>T
ENST00000644464.1:n.593C>T
ENST00000644498.1:c.*1759C>T ENSP00000496244.1:n.*1759C>T
ENST00000644671.1:c.1597C>T
ENST00000644751.1:c.1128C>T
ENST00000644781.1:c.1895C>T ENSP00000495473.1:p.Ala632Val
ENST00000644901.1:c.*2334C>T ENSP00000493797.1:n.*2334C>T
ENST00000645042.1:c.*714C>T ENSP00000493908.1:n.*714C>T
ENST00000645063.1:c.1940C>T ENSP00000493590.1:p.Ala647Val
ENST00000645354.1:c.2700C>T
ENST00000645392.1:n.2281C>T
ENST00000645742.1:n.574C>T
ENST00000645842.1:n.1785C>T
ENST00000645886.1:c.1445C>T
ENST00000645897.1:c.1478C>T ENSP00000495293.1:p.Ala493Val
ENST00000645952.1:n.1805C>T
ENST00000645977.1:n.3058C>T
ENST00000646005.1:n.1698C>T
ENST00000646263.1:c.*813C>T ENSP00000494119.1:n.*813C>T
ENST00000646303.1:c.1808C>T ENSP00000494160.1:p.Ala603Val
ENST00000646399.1:c.2834C>T
ENST00000646445.1:c.798C>T
ENST00000646531.1:c.*563C>T ENSP00000495185.1:n.*563C>T
ENST00000646589.1:c.*1068C>T ENSP00000494739.1:n.*1068C>T
ENST00000646716.1:c.992C>T ENSP00000495593.1:p.Ala331Val
ENST00000646826.1:c.*613C>T ENSP00000495123.1:n.*613C>T
ENST00000646930.1:c.*1869C>T ENSP00000495219.1:n.*1869C>T
ENST00000647032.1:c.1555C>T
ENST00000647079.1:c.1532C>T ENSP00000495967.1:p.Ala511Val
ENST00000647123.1:n.1897C>T
ENST00000647227.1:c.1578C>T
ENST00000647302.1:n.2590C>T
ENST00000647476.1:n.827C>T
ENST00000647491.1:n.1684C>T
XM_006721264.2:c.1940C>T XP_006721327.1:p.Ala647Val
XM_006721264.4:c.1940C>T XP_006721327.1:p.Ala647Val
XR_001751971.2:n.2289C>T
XR_001751972.2:n.3576C>T