Canonical Allele Identifier: CA8244443
Community Standard Title: NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553093G>A , CM000678.2:g.89553093G>A GRCh38
NC_000016.9:g.89619501G>A , CM000678.1:g.89619501G>A GRCh37
NC_000016.8:g.88147002G>A NCBI36
NG_008082.1:g.49697G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1894G>A MANE Select NP_003110.1:p.Gly632Arg
ENST00000645818.2:c.1894G>A MANE Select ENSP00000495795.2:p.Gly632Arg
NM_001363850.1:c.1894G>A NP_001350779.1:p.Gly632Arg
NM_003119.3:c.1894G>A NP_003110.1:p.Gly632Arg
ENST00000268704.6:c.1894G>A ENSP00000268704.2:p.Gly632Arg
ENST00000268704.7:c.1873G>A ENSP00000268704.3:p.Gly625Arg
ENST00000561702.5:n.879G>A
ENST00000561702.6:n.2566G>A
ENST00000561911.5:c.439G>A ENSP00000457387.1:p.Gly147Arg
ENST00000565370.1:n.679G>A
ENST00000566682.1:c.30G>A
ENST00000566682.2:c.907G>A ENSP00000461979.2:p.Gly303Arg
ENST00000568205.1:n.189G>A
ENST00000569720.2:n.577G>A
ENST00000569820.5:c.1136G>A
ENST00000569820.6:c.2167G>A
ENST00000620811.4:c.658G>A ENSP00000478030.1:p.Gly220Arg
ENST00000642226.1:n.1957G>A
ENST00000642334.1:c.3312G>A
ENST00000642814.1:n.1309G>A
ENST00000642984.1:n.1617G>A
ENST00000643105.1:c.2600G>A
ENST00000643350.1:n.1308G>A
ENST00000643409.1:n.2319G>A
ENST00000643496.1:n.1711G>A
ENST00000643649.1:c.1783G>A ENSP00000494806.1:p.Gly595Arg
ENST00000643668.1:c.*2188G>A ENSP00000494903.1:n.*2188G>A
ENST00000643724.1:c.*942G>A ENSP00000496335.1:n.*942G>A
ENST00000643954.1:c.2793G>A
ENST00000644171.1:n.2654G>A
ENST00000644210.1:c.*466G>A ENSP00000495675.1:n.*466G>A
ENST00000644225.1:n.1911G>A
ENST00000644281.1:n.1920G>A
ENST00000644464.1:n.547G>A
ENST00000644498.1:c.*1713G>A ENSP00000496244.1:n.*1713G>A
ENST00000644671.1:c.1551G>A
ENST00000644751.1:c.1082G>A
ENST00000644781.1:c.1849G>A ENSP00000495473.1:p.Gly617Arg
ENST00000644901.1:c.*2288G>A ENSP00000493797.1:n.*2288G>A
ENST00000645042.1:c.*668G>A ENSP00000493908.1:n.*668G>A
ENST00000645063.1:c.1894G>A ENSP00000493590.1:p.Gly632Arg
ENST00000645354.1:c.2654G>A
ENST00000645392.1:n.2235G>A
ENST00000645742.1:n.528G>A
ENST00000645842.1:n.1739G>A
ENST00000645886.1:c.1399G>A
ENST00000645897.1:c.1432G>A ENSP00000495293.1:p.Gly478Arg
ENST00000645952.1:n.1759G>A
ENST00000645977.1:n.3012G>A
ENST00000646005.1:n.1652G>A
ENST00000646263.1:c.*767G>A ENSP00000494119.1:n.*767G>A
ENST00000646303.1:c.1762G>A ENSP00000494160.1:p.Gly588Arg
ENST00000646399.1:c.2788G>A
ENST00000646445.1:c.752G>A
ENST00000646531.1:c.*517G>A ENSP00000495185.1:n.*517G>A
ENST00000646589.1:c.*1022G>A ENSP00000494739.1:n.*1022G>A
ENST00000646716.1:c.946G>A ENSP00000495593.1:p.Gly316Arg
ENST00000646826.1:c.*567G>A ENSP00000495123.1:n.*567G>A
ENST00000646930.1:c.*1823G>A ENSP00000495219.1:n.*1823G>A
ENST00000647032.1:c.1509G>A
ENST00000647079.1:c.1486G>A ENSP00000495967.1:p.Gly496Arg
ENST00000647123.1:n.1851G>A
ENST00000647227.1:c.1532G>A
ENST00000647302.1:n.2544G>A
ENST00000647476.1:n.781G>A
ENST00000647491.1:n.1638G>A
XM_006721264.2:c.1894G>A XP_006721327.1:p.Gly632Arg
XM_006721264.4:c.1894G>A XP_006721327.1:p.Gly632Arg
XR_001751971.2:n.2243G>A
XR_001751972.2:n.3530G>A