Canonical Allele Identifier: CA397434158
Community Standard Title: NM_003119.4(SPG7):c.2028C>A (p.Phe676Leu)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553885C>A , CM000678.2:g.89553885C>A GRCh38
NC_000016.9:g.89620293C>A , CM000678.1:g.89620293C>A GRCh37
NC_000016.8:g.88147794C>A NCBI36
NG_008082.1:g.50489C>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2028C>A MANE Select NP_003110.1:p.Phe676Leu
ENST00000645818.2:c.2028C>A MANE Select ENSP00000495795.2:p.Phe676Leu
NM_001363850.1:c.2028C>A NP_001350779.1:p.Phe676Leu
NM_003119.3:c.2028C>A NP_003110.1:p.Phe676Leu
ENST00000268704.6:c.2028C>A ENSP00000268704.2:p.Phe676Leu
ENST00000268704.7:c.2007C>A ENSP00000268704.3:p.Phe669Leu
ENST00000561702.5:n.1013C>A
ENST00000561702.6:n.2700C>A
ENST00000561911.5:c.628C>A ENSP00000457387.1:p.Pro210Thr
ENST00000566682.1:c.164C>A
ENST00000566682.2:c.1069C>A ENSP00000461979.2:p.Pro357Thr
ENST00000569720.1:n.219C>A
ENST00000569720.2:n.711C>A
ENST00000569820.5:c.1270C>A
ENST00000569820.6:c.2301C>A
ENST00000620811.4:c.*74C>A ENSP00000478030.1:n.*74C>A
ENST00000642226.1:n.2091C>A
ENST00000642334.1:c.3446C>A
ENST00000642814.1:n.1443C>A
ENST00000642984.1:n.1751C>A
ENST00000643105.1:c.2734C>A
ENST00000643350.1:n.1442C>A
ENST00000643409.1:n.2453C>A
ENST00000643496.1:n.1845C>A
ENST00000643649.1:c.1917C>A ENSP00000494806.1:p.Phe639Leu
ENST00000643668.1:c.*2322C>A ENSP00000494903.1:n.*2322C>A
ENST00000643724.1:c.*1076C>A ENSP00000496335.1:n.*1076C>A
ENST00000643954.1:c.2927C>A
ENST00000644171.1:n.2788C>A
ENST00000644210.1:c.*600C>A ENSP00000495675.1:n.*600C>A
ENST00000644225.1:n.2045C>A
ENST00000644281.1:n.2712C>A
ENST00000644464.1:n.681C>A
ENST00000644498.1:c.*1847C>A ENSP00000496244.1:n.*1847C>A
ENST00000644671.1:c.1685C>A
ENST00000644751.1:c.1216C>A
ENST00000644781.1:c.1983C>A ENSP00000495473.1:p.Phe661Leu
ENST00000644901.1:c.*2422C>A ENSP00000493797.1:n.*2422C>A
ENST00000645042.1:c.*802C>A ENSP00000493908.1:n.*802C>A
ENST00000645063.1:c.2028C>A ENSP00000493590.1:p.Phe676Leu
ENST00000645354.1:c.2788C>A
ENST00000645392.1:n.2369C>A
ENST00000645742.1:n.662C>A
ENST00000645842.1:n.1873C>A
ENST00000645886.1:c.1533C>A
ENST00000645897.1:c.1566C>A ENSP00000495293.1:p.Phe522Leu
ENST00000645952.1:n.1893C>A
ENST00000645977.1:n.3146C>A
ENST00000646005.1:n.1786C>A
ENST00000646263.1:c.*901C>A ENSP00000494119.1:n.*901C>A
ENST00000646303.1:c.1896C>A ENSP00000494160.1:p.Phe632Leu
ENST00000646399.1:c.2922C>A
ENST00000646445.1:c.886C>A
ENST00000646531.1:c.*651C>A ENSP00000495185.1:n.*651C>A
ENST00000646589.1:c.*1156C>A ENSP00000494739.1:n.*1156C>A
ENST00000646716.1:c.1080C>A ENSP00000495593.1:p.Phe360Leu
ENST00000646826.1:c.*701C>A ENSP00000495123.1:n.*701C>A
ENST00000646930.1:c.*1957C>A ENSP00000495219.1:n.*1957C>A
ENST00000647032.1:c.1643C>A
ENST00000647079.1:c.1620C>A ENSP00000495967.1:p.Phe540Leu
ENST00000647123.1:n.1985C>A
ENST00000647227.1:c.1666C>A
ENST00000647302.1:n.2678C>A
ENST00000647476.1:n.915C>A
ENST00000647491.1:n.1772C>A
XM_006721264.2:c.2028C>A XP_006721327.1:p.Phe676Leu
XM_006721264.4:c.2028C>A XP_006721327.1:p.Phe676Leu
XR_001751971.2:n.2377C>A
XR_001751972.2:n.3664C>A