Canonical Allele Identifier: CA286509984
Community Standard Title: NM_003119.4(SPG7):c.2370G>A (p.Glu790=)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89557075G>A , CM000678.2:g.89557075G>A GRCh38
NC_000016.9:g.89623483G>A , CM000678.1:g.89623483G>A GRCh37
NC_000016.8:g.88150984G>A NCBI36
NG_008082.1:g.53679G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2370G>A MANE Select NP_003110.1:p.Glu790=
ENST00000645818.2:c.2370G>A MANE Select ENSP00000495795.2:p.Glu790=
NM_001363850.1:c.*148G>A NP_001350779.1:n.*148G>A
NM_003119.3:c.2370G>A NP_003110.1:p.Glu790=
ENST00000268704.6:c.2370G>A ENSP00000268704.2:p.Glu790=
ENST00000268704.7:c.2349G>A ENSP00000268704.3:p.Glu783=
ENST00000561702.5:n.1355G>A
ENST00000561702.6:n.3042G>A
ENST00000561911.5:c.970G>A ENSP00000457387.1:n.970G>A
ENST00000565891.1:n.411G>A
ENST00000565891.2:c.394G>A ENSP00000495004.1:n.394G>A
ENST00000569720.1:n.561G>A
ENST00000569720.2:n.1053G>A
ENST00000569820.5:c.1612G>A
ENST00000569820.6:c.2643G>A
ENST00000620811.4:c.*416G>A ENSP00000478030.1:n.*416G>A
ENST00000642226.1:n.2433G>A
ENST00000642334.1:c.3788G>A
ENST00000642814.1:n.1785G>A
ENST00000642984.1:n.2093G>A
ENST00000643105.1:c.3076G>A
ENST00000643350.1:n.1784G>A
ENST00000643409.1:n.2795G>A
ENST00000643496.1:n.2187G>A
ENST00000643649.1:c.2259G>A ENSP00000494806.1:p.Glu753=
ENST00000643668.1:c.*2664G>A ENSP00000494903.1:n.*2664G>A
ENST00000643724.1:c.*1418G>A ENSP00000496335.1:n.*1418G>A
ENST00000643954.1:c.3269G>A
ENST00000644171.1:n.3130G>A
ENST00000644210.1:c.*942G>A ENSP00000495675.1:n.*942G>A
ENST00000644225.1:n.3909G>A
ENST00000644281.1:n.3054G>A
ENST00000644464.1:n.2545G>A
ENST00000644498.1:c.*2189G>A ENSP00000496244.1:n.*2189G>A
ENST00000644671.1:c.2027G>A
ENST00000644751.1:c.1558G>A
ENST00000644781.1:c.2325G>A ENSP00000495473.1:p.Glu775=
ENST00000644901.1:c.*2764G>A ENSP00000493797.1:n.*2764G>A
ENST00000645042.1:c.*1144G>A ENSP00000493908.1:n.*1144G>A
ENST00000645063.1:c.*148G>A ENSP00000493590.1:n.*148G>A
ENST00000645392.1:n.2711G>A
ENST00000645742.1:n.1004G>A
ENST00000645842.1:n.2215G>A
ENST00000645886.1:c.1875G>A
ENST00000645897.1:c.1908G>A ENSP00000495293.1:p.Glu636=
ENST00000645952.1:n.2400G>A
ENST00000645977.1:n.3488G>A
ENST00000646005.1:n.2128G>A
ENST00000646263.1:c.*1243G>A ENSP00000494119.1:n.*1243G>A
ENST00000646303.1:c.2238G>A ENSP00000494160.1:p.Glu746=
ENST00000646399.1:c.3264G>A
ENST00000646445.1:c.1228G>A
ENST00000646531.1:c.*993G>A ENSP00000495185.1:n.*993G>A
ENST00000646589.1:c.*1498G>A ENSP00000494739.1:n.*1498G>A
ENST00000646716.1:c.*148G>A ENSP00000495593.1:n.*148G>A
ENST00000646826.1:c.*1043G>A ENSP00000495123.1:n.*1043G>A
ENST00000646930.1:c.*2299G>A ENSP00000495219.1:n.*2299G>A
ENST00000647032.1:c.2001G>A
ENST00000647079.1:c.1962G>A ENSP00000495967.1:p.Glu654=
ENST00000647123.1:n.2327G>A
ENST00000647227.1:c.2008G>A
ENST00000647302.1:n.3020G>A
ENST00000647476.1:n.3580G>A
ENST00000647491.1:n.2114G>A
XM_006721264.2:c.*148G>A XP_006721327.1:n.*148G>A
XM_006721264.4:c.*148G>A XP_006721327.1:n.*148G>A
XR_001751971.2:n.2719G>A
XR_001751972.2:n.4006G>A