Canonical Allele Identifier: CA397434608
Gene: SPG7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89554495C>G , CM000678.2:g.89554495C>G GRCh38
NC_000016.9:g.89620903C>G , CM000678.1:g.89620903C>G GRCh37
NC_000016.8:g.88148404C>G NCBI36
NG_008082.1:g.51099C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268704.7:c.2092C>G ENSP00000268704.3:p.Leu698Val
ENST00000561702.6:n.2785C>G
ENST00000565891.2:c.10C>G ENSP00000495004.1:p.Leu4Val
ENST00000566682.2:c.1154C>G ENSP00000461979.2:n.1154C>G
ENST00000569720.2:n.796C>G
ENST00000569820.6:c.2386C>G
ENST00000642226.1:n.2176C>G
ENST00000642334.1:c.3531C>G
ENST00000642814.1:n.1528C>G
ENST00000642984.1:n.1836C>G
ENST00000643105.1:c.2819C>G
ENST00000643350.1:n.1527C>G
ENST00000643409.1:n.2538C>G
ENST00000643496.1:n.1930C>G
ENST00000643649.1:c.2002C>G ENSP00000494806.1:p.Leu668Val
ENST00000643668.1:c.*2407C>G ENSP00000494903.1:n.*2407C>G
ENST00000643724.1:c.*1161C>G ENSP00000496335.1:n.*1161C>G
ENST00000643954.1:c.3012C>G
ENST00000644171.1:n.2873C>G
ENST00000644210.1:c.*685C>G ENSP00000495675.1:n.*685C>G
ENST00000644225.1:n.2130C>G
ENST00000644281.1:n.2797C>G
ENST00000644464.1:n.766C>G
ENST00000644498.1:c.*1932C>G ENSP00000496244.1:n.*1932C>G
ENST00000644671.1:c.1770C>G
ENST00000644751.1:c.1301C>G
ENST00000644781.1:c.2068C>G ENSP00000495473.1:p.Leu690Val
ENST00000644901.1:c.*2507C>G ENSP00000493797.1:n.*2507C>G
ENST00000645042.1:c.*887C>G ENSP00000493908.1:n.*887C>G
ENST00000645063.1:c.2113C>G ENSP00000493590.1:p.Leu705Val
ENST00000645354.1:c.2873C>G
ENST00000645392.1:n.2454C>G
ENST00000645742.1:n.747C>G
ENST00000645818.2:c.2113C>G MANE Select ENSP00000495795.2:p.Leu705Val
ENST00000645842.1:n.1958C>G
ENST00000645886.1:c.1618C>G
ENST00000645897.1:c.1651C>G ENSP00000495293.1:p.Leu551Val
ENST00000645952.1:n.1978C>G
ENST00000645977.1:n.3231C>G
ENST00000646005.1:n.1871C>G
ENST00000646263.1:c.*986C>G ENSP00000494119.1:n.*986C>G
ENST00000646303.1:c.1981C>G ENSP00000494160.1:p.Leu661Val
ENST00000646399.1:c.3007C>G
ENST00000646445.1:c.971C>G
ENST00000646531.1:c.*736C>G ENSP00000495185.1:n.*736C>G
ENST00000646589.1:c.*1241C>G ENSP00000494739.1:n.*1241C>G
ENST00000646716.1:c.1165C>G ENSP00000495593.1:p.Leu389Val
ENST00000646826.1:c.*786C>G ENSP00000495123.1:n.*786C>G
ENST00000646930.1:c.*2042C>G ENSP00000495219.1:n.*2042C>G
ENST00000647032.1:c.1744C>G
ENST00000647079.1:c.1705C>G ENSP00000495967.1:p.Leu569Val
ENST00000647123.1:n.2070C>G
ENST00000647227.1:c.1751C>G
ENST00000647302.1:n.2763C>G
ENST00000647476.1:n.1000C>G
ENST00000647491.1:n.1857C>G
ENST00000268704.6:c.2113C>G ENSP00000268704.2:p.Leu705Val
ENST00000561702.5:n.1098C>G
ENST00000561911.5:c.713C>G ENSP00000457387.1:n.713C>G
ENST00000566682.1:c.249C>G
ENST00000569720.1:n.304C>G
ENST00000569820.5:c.1355C>G
ENST00000620811.4:c.*159C>G ENSP00000478030.1:n.*159C>G
NM_003119.3:c.2113C>G NP_003110.1:p.Leu705Val
XM_006721264.2:c.2113C>G XP_006721327.1:p.Leu705Val
NM_001363850.1:c.2113C>G NP_001350779.1:p.Leu705Val
XM_006721264.4:c.2113C>G XP_006721327.1:p.Leu705Val
XR_001751971.2:n.2462C>G
XR_001751972.2:n.3749C>G
NM_003119.4:c.2113C>G MANE Select NP_003110.1:p.Leu705Val