Canonical Allele Identifier: CA286509904
Community Standard Title: NM_003119.4(SPG7):c.2290A>G (p.Ile764Val)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89556995A>G , CM000678.2:g.89556995A>G GRCh38
NC_000016.9:g.89623403A>G , CM000678.1:g.89623403A>G GRCh37
NC_000016.8:g.88150904A>G NCBI36
NG_008082.1:g.53599A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2290A>G MANE Select NP_003110.1:p.Ile764Val
ENST00000645818.2:c.2290A>G MANE Select ENSP00000495795.2:p.Ile764Val
NM_001363850.1:c.*68A>G NP_001350779.1:n.*68A>G
NM_003119.3:c.2290A>G NP_003110.1:p.Ile764Val
ENST00000268704.6:c.2290A>G ENSP00000268704.2:p.Ile764Val
ENST00000268704.7:c.2269A>G ENSP00000268704.3:p.Ile757Val
ENST00000561702.5:n.1275A>G
ENST00000561702.6:n.2962A>G
ENST00000561911.5:c.890A>G ENSP00000457387.1:n.890A>G
ENST00000565891.1:n.331A>G
ENST00000565891.2:c.314A>G ENSP00000495004.1:n.314A>G
ENST00000569720.1:n.481A>G
ENST00000569720.2:n.973A>G
ENST00000569820.5:c.1532A>G
ENST00000569820.6:c.2563A>G
ENST00000620811.4:c.*336A>G ENSP00000478030.1:n.*336A>G
ENST00000642226.1:n.2353A>G
ENST00000642334.1:c.3708A>G
ENST00000642814.1:n.1705A>G
ENST00000642984.1:n.2013A>G
ENST00000643105.1:c.2996A>G
ENST00000643350.1:n.1704A>G
ENST00000643409.1:n.2715A>G
ENST00000643496.1:n.2107A>G
ENST00000643649.1:c.2179A>G ENSP00000494806.1:p.Ile727Val
ENST00000643668.1:c.*2584A>G ENSP00000494903.1:n.*2584A>G
ENST00000643724.1:c.*1338A>G ENSP00000496335.1:n.*1338A>G
ENST00000643954.1:c.3189A>G
ENST00000644171.1:n.3050A>G
ENST00000644210.1:c.*862A>G ENSP00000495675.1:n.*862A>G
ENST00000644225.1:n.3829A>G
ENST00000644281.1:n.2974A>G
ENST00000644464.1:n.2465A>G
ENST00000644498.1:c.*2109A>G ENSP00000496244.1:n.*2109A>G
ENST00000644671.1:c.1947A>G
ENST00000644751.1:c.1478A>G
ENST00000644781.1:c.2245A>G ENSP00000495473.1:p.Ile749Val
ENST00000644901.1:c.*2684A>G ENSP00000493797.1:n.*2684A>G
ENST00000645042.1:c.*1064A>G ENSP00000493908.1:n.*1064A>G
ENST00000645063.1:c.*68A>G ENSP00000493590.1:n.*68A>G
ENST00000645392.1:n.2631A>G
ENST00000645742.1:n.924A>G
ENST00000645842.1:n.2135A>G
ENST00000645886.1:c.1795A>G
ENST00000645897.1:c.1828A>G ENSP00000495293.1:p.Ile610Val
ENST00000645952.1:n.2320A>G
ENST00000645977.1:n.3408A>G
ENST00000646005.1:n.2048A>G
ENST00000646263.1:c.*1163A>G ENSP00000494119.1:n.*1163A>G
ENST00000646303.1:c.2158A>G ENSP00000494160.1:p.Ile720Val
ENST00000646399.1:c.3184A>G
ENST00000646445.1:c.1148A>G
ENST00000646531.1:c.*913A>G ENSP00000495185.1:n.*913A>G
ENST00000646589.1:c.*1418A>G ENSP00000494739.1:n.*1418A>G
ENST00000646716.1:c.*68A>G ENSP00000495593.1:n.*68A>G
ENST00000646826.1:c.*963A>G ENSP00000495123.1:n.*963A>G
ENST00000646930.1:c.*2219A>G ENSP00000495219.1:n.*2219A>G
ENST00000647032.1:c.1921A>G
ENST00000647079.1:c.1882A>G ENSP00000495967.1:p.Ile628Val
ENST00000647123.1:n.2247A>G
ENST00000647227.1:c.1928A>G
ENST00000647302.1:n.2940A>G
ENST00000647476.1:n.3500A>G
ENST00000647491.1:n.2034A>G
XM_006721264.2:c.*68A>G XP_006721327.1:n.*68A>G
XM_006721264.4:c.*68A>G XP_006721327.1:n.*68A>G
XR_001751971.2:n.2639A>G
XR_001751972.2:n.3926A>G