Canonical Allele Identifier: CA397433981
Community Standard Title: NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553858G>A , CM000678.2:g.89553858G>A GRCh38
NC_000016.9:g.89620266G>A , CM000678.1:g.89620266G>A GRCh37
NC_000016.8:g.88147767G>A NCBI36
NG_008082.1:g.50462G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2001G>A MANE Select NP_003110.1:p.Met667Ile
ENST00000645818.2:c.2001G>A MANE Select ENSP00000495795.2:p.Met667Ile
NM_001363850.1:c.2001G>A NP_001350779.1:p.Met667Ile
NM_003119.3:c.2001G>A NP_003110.1:p.Met667Ile
ENST00000268704.6:c.2001G>A ENSP00000268704.2:p.Met667Ile
ENST00000268704.7:c.1980G>A ENSP00000268704.3:p.Met660Ile
ENST00000561702.5:n.986G>A
ENST00000561702.6:n.2673G>A
ENST00000561911.5:c.601G>A ENSP00000457387.1:p.Gly201Ser
ENST00000566682.1:c.137G>A
ENST00000566682.2:c.1042G>A ENSP00000461979.2:p.Gly348Ser
ENST00000569720.1:n.192G>A
ENST00000569720.2:n.684G>A
ENST00000569820.5:c.1243G>A
ENST00000569820.6:c.2274G>A
ENST00000620811.4:c.*47G>A ENSP00000478030.1:n.*47G>A
ENST00000642226.1:n.2064G>A
ENST00000642334.1:c.3419G>A
ENST00000642814.1:n.1416G>A
ENST00000642984.1:n.1724G>A
ENST00000643105.1:c.2707G>A
ENST00000643350.1:n.1415G>A
ENST00000643409.1:n.2426G>A
ENST00000643496.1:n.1818G>A
ENST00000643649.1:c.1890G>A ENSP00000494806.1:p.Met630Ile
ENST00000643668.1:c.*2295G>A ENSP00000494903.1:n.*2295G>A
ENST00000643724.1:c.*1049G>A ENSP00000496335.1:n.*1049G>A
ENST00000643954.1:c.2900G>A
ENST00000644171.1:n.2761G>A
ENST00000644210.1:c.*573G>A ENSP00000495675.1:n.*573G>A
ENST00000644225.1:n.2018G>A
ENST00000644281.1:n.2685G>A
ENST00000644464.1:n.654G>A
ENST00000644498.1:c.*1820G>A ENSP00000496244.1:n.*1820G>A
ENST00000644671.1:c.1658G>A
ENST00000644751.1:c.1189G>A
ENST00000644781.1:c.1956G>A ENSP00000495473.1:p.Met652Ile
ENST00000644901.1:c.*2395G>A ENSP00000493797.1:n.*2395G>A
ENST00000645042.1:c.*775G>A ENSP00000493908.1:n.*775G>A
ENST00000645063.1:c.2001G>A ENSP00000493590.1:p.Met667Ile
ENST00000645354.1:c.2761G>A
ENST00000645392.1:n.2342G>A
ENST00000645742.1:n.635G>A
ENST00000645842.1:n.1846G>A
ENST00000645886.1:c.1506G>A
ENST00000645897.1:c.1539G>A ENSP00000495293.1:p.Met513Ile
ENST00000645952.1:n.1866G>A
ENST00000645977.1:n.3119G>A
ENST00000646005.1:n.1759G>A
ENST00000646263.1:c.*874G>A ENSP00000494119.1:n.*874G>A
ENST00000646303.1:c.1869G>A ENSP00000494160.1:p.Met623Ile
ENST00000646399.1:c.2895G>A
ENST00000646445.1:c.859G>A
ENST00000646531.1:c.*624G>A ENSP00000495185.1:n.*624G>A
ENST00000646589.1:c.*1129G>A ENSP00000494739.1:n.*1129G>A
ENST00000646716.1:c.1053G>A ENSP00000495593.1:p.Met351Ile
ENST00000646826.1:c.*674G>A ENSP00000495123.1:n.*674G>A
ENST00000646930.1:c.*1930G>A ENSP00000495219.1:n.*1930G>A
ENST00000647032.1:c.1616G>A
ENST00000647079.1:c.1593G>A ENSP00000495967.1:p.Met531Ile
ENST00000647123.1:n.1958G>A
ENST00000647227.1:c.1639G>A
ENST00000647302.1:n.2651G>A
ENST00000647476.1:n.888G>A
ENST00000647491.1:n.1745G>A
XM_006721264.2:c.2001G>A XP_006721327.1:p.Met667Ile
XM_006721264.4:c.2001G>A XP_006721327.1:p.Met667Ile
XR_001751971.2:n.2350G>A
XR_001751972.2:n.3637G>A