Canonical Allele Identifier: CA321652
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89556893A>G , CM000678.2:g.89556893A>G GRCh38
NC_000016.9:g.89623301A>G , CM000678.1:g.89623301A>G GRCh37
NC_000016.8:g.88150802A>G NCBI36
NG_008082.1:g.53497A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268704.7:c.2167A>G ENSP00000268704.3:p.Asn723Asp
ENST00000561702.6:n.2860A>G
ENST00000565891.2:c.212A>G ENSP00000495004.1:p.Lys71Arg
ENST00000569720.2:n.871A>G
ENST00000569820.6:c.2461A>G
ENST00000642226.1:n.2251A>G
ENST00000642334.1:c.3606A>G
ENST00000642814.1:n.1603A>G
ENST00000642984.1:n.1911A>G
ENST00000643105.1:c.2894A>G
ENST00000643350.1:n.1602A>G
ENST00000643409.1:n.2613A>G
ENST00000643496.1:n.2005A>G
ENST00000643649.1:c.2077A>G ENSP00000494806.1:p.Asn693Asp
ENST00000643668.1:c.*2482A>G ENSP00000494903.1:n.*2482A>G
ENST00000643724.1:c.*1236A>G ENSP00000496335.1:n.*1236A>G
ENST00000643954.1:c.3087A>G
ENST00000644171.1:n.2948A>G
ENST00000644210.1:c.*760A>G ENSP00000495675.1:n.*760A>G
ENST00000644225.1:n.3727A>G
ENST00000644281.1:n.2872A>G
ENST00000644464.1:n.2363A>G
ENST00000644498.1:c.*2007A>G ENSP00000496244.1:n.*2007A>G
ENST00000644671.1:c.1845A>G
ENST00000644751.1:c.1376A>G
ENST00000644781.1:c.2143A>G ENSP00000495473.1:p.Asn715Asp
ENST00000644901.1:c.*2582A>G ENSP00000493797.1:n.*2582A>G
ENST00000645042.1:c.*962A>G ENSP00000493908.1:n.*962A>G
ENST00000645063.1:c.2396A>G ENSP00000493590.1:p.Lys799Arg
ENST00000645392.1:n.2529A>G
ENST00000645742.1:n.822A>G
ENST00000645818.2:c.2188A>G MANE Select ENSP00000495795.2:p.Asn730Asp
ENST00000645842.1:n.2033A>G
ENST00000645886.1:c.1693A>G
ENST00000645897.1:c.1726A>G ENSP00000495293.1:p.Asn576Asp
ENST00000645952.1:n.2218A>G
ENST00000645977.1:n.3306A>G
ENST00000646005.1:n.1946A>G
ENST00000646263.1:c.*1061A>G ENSP00000494119.1:n.*1061A>G
ENST00000646303.1:c.2056A>G ENSP00000494160.1:p.Asn686Asp
ENST00000646399.1:c.3082A>G
ENST00000646445.1:c.1046A>G
ENST00000646531.1:c.*811A>G ENSP00000495185.1:n.*811A>G
ENST00000646589.1:c.*1316A>G ENSP00000494739.1:n.*1316A>G
ENST00000646716.1:c.1448A>G ENSP00000495593.1:p.Lys483Arg
ENST00000646826.1:c.*861A>G ENSP00000495123.1:n.*861A>G
ENST00000646930.1:c.*2117A>G ENSP00000495219.1:n.*2117A>G
ENST00000647032.1:c.1819A>G
ENST00000647079.1:c.1780A>G ENSP00000495967.1:p.Asn594Asp
ENST00000647123.1:n.2145A>G
ENST00000647227.1:c.1826A>G
ENST00000647302.1:n.2838A>G
ENST00000647476.1:n.3398A>G
ENST00000647491.1:n.1932A>G
ENST00000268704.6:c.2188A>G ENSP00000268704.2:p.Asn730Asp
ENST00000561702.5:n.1173A>G
ENST00000561911.5:c.788A>G ENSP00000457387.1:n.788A>G
ENST00000565891.1:n.229A>G
ENST00000569720.1:n.379A>G
ENST00000569820.5:c.1430A>G
ENST00000620811.4:c.*234A>G ENSP00000478030.1:n.*234A>G
NM_003119.3:c.2188A>G NP_003110.1:p.Asn730Asp
XM_006721264.2:c.2396A>G XP_006721327.1:p.Lys799Arg
NM_001363850.1:c.2396A>G NP_001350779.1:p.Lys799Arg
XM_006721264.4:c.2396A>G XP_006721327.1:p.Lys799Arg
XR_001751971.2:n.2537A>G
XR_001751972.2:n.3824A>G
NM_003119.4:c.2188A>G MANE Select NP_003110.1:p.Asn730Asp