Canonical Allele Identifier: CA397431065
Community Standard Title: NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89550560G>A , CM000678.2:g.89550560G>A GRCh38
NC_000016.9:g.89616968G>A , CM000678.1:g.89616968G>A GRCh37
NC_000016.8:g.88144469G>A NCBI36
NG_008082.1:g.47164G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1730G>A MANE Select NP_003110.1:p.Gly577Asp
ENST00000645818.2:c.1730G>A MANE Select ENSP00000495795.2:p.Gly577Asp
NM_001363850.1:c.1730G>A NP_001350779.1:p.Gly577Asp
NM_003119.3:c.1730G>A NP_003110.1:p.Gly577Asp
ENST00000268704.6:c.1730G>A ENSP00000268704.2:p.Gly577Asp
ENST00000268704.7:c.1709G>A ENSP00000268704.3:p.Gly570Asp
ENST00000561702.5:n.715G>A
ENST00000561702.6:n.2402G>A
ENST00000561911.5:c.275G>A ENSP00000457387.1:p.Gly92Asp
ENST00000565370.1:n.515G>A
ENST00000566221.5:c.584G>A
ENST00000566682.2:c.743G>A ENSP00000461979.2:p.Gly248Asp
ENST00000568205.1:n.25G>A
ENST00000569820.5:c.972G>A
ENST00000569820.6:c.2003G>A
ENST00000620811.4:c.505G>A ENSP00000478030.1:p.Ala169Thr
ENST00000642226.1:n.1793G>A
ENST00000642334.1:c.3148G>A
ENST00000642814.1:n.1145G>A
ENST00000642984.1:n.1326G>A
ENST00000643105.1:c.2436G>A
ENST00000643350.1:n.1144G>A
ENST00000643409.1:n.2155G>A
ENST00000643496.1:n.1547G>A
ENST00000643649.1:c.1619G>A ENSP00000494806.1:p.Gly540Asp
ENST00000643668.1:c.*2024G>A ENSP00000494903.1:n.*2024G>A
ENST00000643724.1:c.*778G>A ENSP00000496335.1:n.*778G>A
ENST00000643954.1:c.2629G>A
ENST00000644171.1:n.2490G>A
ENST00000644210.1:c.*302G>A ENSP00000495675.1:n.*302G>A
ENST00000644225.1:n.1747G>A
ENST00000644464.1:n.383G>A
ENST00000644498.1:c.*1549G>A ENSP00000496244.1:n.*1549G>A
ENST00000644671.1:c.1387G>A
ENST00000644751.1:c.918G>A
ENST00000644781.1:c.1730G>A ENSP00000495473.1:p.Gly577Asp
ENST00000644901.1:c.*2124G>A ENSP00000493797.1:n.*2124G>A
ENST00000645042.1:c.*504G>A ENSP00000493908.1:n.*504G>A
ENST00000645063.1:c.1730G>A ENSP00000493590.1:p.Gly577Asp
ENST00000645354.1:c.2490G>A
ENST00000645392.1:n.2071G>A
ENST00000645742.1:n.364G>A
ENST00000645842.1:n.1575G>A
ENST00000645886.1:c.1235G>A
ENST00000645897.1:c.1268G>A ENSP00000495293.1:p.Gly423Asp
ENST00000645952.1:n.1595G>A
ENST00000645977.1:n.2848G>A
ENST00000646005.1:n.1488G>A
ENST00000646263.1:c.*603G>A ENSP00000494119.1:n.*603G>A
ENST00000646303.1:c.1598G>A ENSP00000494160.1:p.Gly533Asp
ENST00000646399.1:c.2624G>A
ENST00000646445.1:c.588G>A
ENST00000646531.1:c.*353G>A ENSP00000495185.1:n.*353G>A
ENST00000646589.1:c.*858G>A ENSP00000494739.1:n.*858G>A
ENST00000646716.1:c.782G>A ENSP00000495593.1:p.Gly261Asp
ENST00000646826.1:c.*403G>A ENSP00000495123.1:n.*403G>A
ENST00000646930.1:c.*1659G>A ENSP00000495219.1:n.*1659G>A
ENST00000647032.1:c.1345G>A
ENST00000647079.1:c.1322G>A ENSP00000495967.1:p.Gly441Asp
ENST00000647123.1:n.1687G>A
ENST00000647227.1:c.1368G>A
ENST00000647302.1:n.2380G>A
ENST00000647476.1:n.617G>A
ENST00000647491.1:n.1474G>A
XM_006721264.2:c.1730G>A XP_006721327.1:p.Gly577Asp
XM_006721264.4:c.1730G>A XP_006721327.1:p.Gly577Asp
XR_001751971.2:n.2079G>A
XR_001751972.2:n.3366G>A