Canonical Allele Identifier: CA397431066
Community Standard Title: NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)
Gene: SPG7 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1730G>C MANE Select NP_003110.1:p.Gly577Ala
ENST00000645818.2:c.1730G>C MANE Select ENSP00000495795.2:p.Gly577Ala
NM_001363850.1:c.1730G>C NP_001350779.1:p.Gly577Ala
NM_003119.3:c.1730G>C NP_003110.1:p.Gly577Ala
ENST00000268704.6:c.1730G>C ENSP00000268704.2:p.Gly577Ala
ENST00000268704.7:c.1709G>C ENSP00000268704.3:p.Gly570Ala
ENST00000561702.5:n.715G>C
ENST00000561702.6:n.2402G>C
ENST00000561911.5:c.275G>C ENSP00000457387.1:p.Gly92Ala
ENST00000565370.1:n.515G>C
ENST00000566221.5:c.584G>C
ENST00000566682.2:c.743G>C ENSP00000461979.2:p.Gly248Ala
ENST00000568205.1:n.25G>C
ENST00000569820.5:c.972G>C
ENST00000569820.6:c.2003G>C
ENST00000620811.4:c.505G>C ENSP00000478030.1:p.Ala169Pro
ENST00000642226.1:n.1793G>C
ENST00000642334.1:c.3148G>C
ENST00000642814.1:n.1145G>C
ENST00000642984.1:n.1326G>C
ENST00000643105.1:c.2436G>C
ENST00000643350.1:n.1144G>C
ENST00000643409.1:n.2155G>C
ENST00000643496.1:n.1547G>C
ENST00000643649.1:c.1619G>C ENSP00000494806.1:p.Gly540Ala
ENST00000643668.1:c.*2024G>C ENSP00000494903.1:n.*2024G>C
ENST00000643724.1:c.*778G>C ENSP00000496335.1:n.*778G>C
ENST00000643954.1:c.2629G>C
ENST00000644171.1:n.2490G>C
ENST00000644210.1:c.*302G>C ENSP00000495675.1:n.*302G>C
ENST00000644225.1:n.1747G>C
ENST00000644464.1:n.383G>C
ENST00000644498.1:c.*1549G>C ENSP00000496244.1:n.*1549G>C
ENST00000644671.1:c.1387G>C
ENST00000644751.1:c.918G>C
ENST00000644781.1:c.1730G>C ENSP00000495473.1:p.Gly577Ala
ENST00000644901.1:c.*2124G>C ENSP00000493797.1:n.*2124G>C
ENST00000645042.1:c.*504G>C ENSP00000493908.1:n.*504G>C
ENST00000645063.1:c.1730G>C ENSP00000493590.1:p.Gly577Ala
ENST00000645354.1:c.2490G>C
ENST00000645392.1:n.2071G>C
ENST00000645742.1:n.364G>C
ENST00000645842.1:n.1575G>C
ENST00000645886.1:c.1235G>C
ENST00000645897.1:c.1268G>C ENSP00000495293.1:p.Gly423Ala
ENST00000645952.1:n.1595G>C
ENST00000645977.1:n.2848G>C
ENST00000646005.1:n.1488G>C
ENST00000646263.1:c.*603G>C ENSP00000494119.1:n.*603G>C
ENST00000646303.1:c.1598G>C ENSP00000494160.1:p.Gly533Ala
ENST00000646399.1:c.2624G>C
ENST00000646445.1:c.588G>C
ENST00000646531.1:c.*353G>C ENSP00000495185.1:n.*353G>C
ENST00000646589.1:c.*858G>C ENSP00000494739.1:n.*858G>C
ENST00000646716.1:c.782G>C ENSP00000495593.1:p.Gly261Ala
ENST00000646826.1:c.*403G>C ENSP00000495123.1:n.*403G>C
ENST00000646930.1:c.*1659G>C ENSP00000495219.1:n.*1659G>C
ENST00000647032.1:c.1345G>C
ENST00000647079.1:c.1322G>C ENSP00000495967.1:p.Gly441Ala
ENST00000647123.1:n.1687G>C
ENST00000647227.1:c.1368G>C
ENST00000647302.1:n.2380G>C
ENST00000647476.1:n.617G>C
ENST00000647491.1:n.1474G>C
XM_006721264.2:c.1730G>C XP_006721327.1:p.Gly577Ala
XM_006721264.4:c.1730G>C XP_006721327.1:p.Gly577Ala
XR_001751971.2:n.2079G>C
XR_001751972.2:n.3366G>C