Canonical Allele Identifier: CA397433947
Community Standard Title: NM_003119.4(SPG7):c.1997G>C (p.Gly666Ala)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553854G>C , CM000678.2:g.89553854G>C GRCh38
NC_000016.9:g.89620262G>C , CM000678.1:g.89620262G>C GRCh37
NC_000016.8:g.88147763G>C NCBI36
NG_008082.1:g.50458G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1997G>C MANE Select NP_003110.1:p.Gly666Ala
ENST00000645818.2:c.1997G>C MANE Select ENSP00000495795.2:p.Gly666Ala
NM_001363850.1:c.1997G>C NP_001350779.1:p.Gly666Ala
NM_003119.3:c.1997G>C NP_003110.1:p.Gly666Ala
ENST00000268704.6:c.1997G>C ENSP00000268704.2:p.Gly666Ala
ENST00000268704.7:c.1976G>C ENSP00000268704.3:p.Gly659Ala
ENST00000561702.5:n.982G>C
ENST00000561702.6:n.2669G>C
ENST00000561911.5:c.597G>C ENSP00000457387.1:p.Trp199Cys
ENST00000566682.1:c.133G>C
ENST00000566682.2:c.1038G>C ENSP00000461979.2:p.Trp346Cys
ENST00000569720.1:n.188G>C
ENST00000569720.2:n.680G>C
ENST00000569820.5:c.1239G>C
ENST00000569820.6:c.2270G>C
ENST00000620811.4:c.*43G>C ENSP00000478030.1:n.*43G>C
ENST00000642226.1:n.2060G>C
ENST00000642334.1:c.3415G>C
ENST00000642814.1:n.1412G>C
ENST00000642984.1:n.1720G>C
ENST00000643105.1:c.2703G>C
ENST00000643350.1:n.1411G>C
ENST00000643409.1:n.2422G>C
ENST00000643496.1:n.1814G>C
ENST00000643649.1:c.1886G>C ENSP00000494806.1:p.Gly629Ala
ENST00000643668.1:c.*2291G>C ENSP00000494903.1:n.*2291G>C
ENST00000643724.1:c.*1045G>C ENSP00000496335.1:n.*1045G>C
ENST00000643954.1:c.2896G>C
ENST00000644171.1:n.2757G>C
ENST00000644210.1:c.*569G>C ENSP00000495675.1:n.*569G>C
ENST00000644225.1:n.2014G>C
ENST00000644281.1:n.2681G>C
ENST00000644464.1:n.650G>C
ENST00000644498.1:c.*1816G>C ENSP00000496244.1:n.*1816G>C
ENST00000644671.1:c.1654G>C
ENST00000644751.1:c.1185G>C
ENST00000644781.1:c.1952G>C ENSP00000495473.1:p.Gly651Ala
ENST00000644901.1:c.*2391G>C ENSP00000493797.1:n.*2391G>C
ENST00000645042.1:c.*771G>C ENSP00000493908.1:n.*771G>C
ENST00000645063.1:c.1997G>C ENSP00000493590.1:p.Gly666Ala
ENST00000645354.1:c.2757G>C
ENST00000645392.1:n.2338G>C
ENST00000645742.1:n.631G>C
ENST00000645842.1:n.1842G>C
ENST00000645886.1:c.1502G>C
ENST00000645897.1:c.1535G>C ENSP00000495293.1:p.Gly512Ala
ENST00000645952.1:n.1862G>C
ENST00000645977.1:n.3115G>C
ENST00000646005.1:n.1755G>C
ENST00000646263.1:c.*870G>C ENSP00000494119.1:n.*870G>C
ENST00000646303.1:c.1865G>C ENSP00000494160.1:p.Gly622Ala
ENST00000646399.1:c.2891G>C
ENST00000646445.1:c.855G>C
ENST00000646531.1:c.*620G>C ENSP00000495185.1:n.*620G>C
ENST00000646589.1:c.*1125G>C ENSP00000494739.1:n.*1125G>C
ENST00000646716.1:c.1049G>C ENSP00000495593.1:p.Gly350Ala
ENST00000646826.1:c.*670G>C ENSP00000495123.1:n.*670G>C
ENST00000646930.1:c.*1926G>C ENSP00000495219.1:n.*1926G>C
ENST00000647032.1:c.1612G>C
ENST00000647079.1:c.1589G>C ENSP00000495967.1:p.Gly530Ala
ENST00000647123.1:n.1954G>C
ENST00000647227.1:c.1635G>C
ENST00000647302.1:n.2647G>C
ENST00000647476.1:n.884G>C
ENST00000647491.1:n.1741G>C
XM_006721264.2:c.1997G>C XP_006721327.1:p.Gly666Ala
XM_006721264.4:c.1997G>C XP_006721327.1:p.Gly666Ala
XR_001751971.2:n.2346G>C
XR_001751972.2:n.3633G>C