Canonical Allele Identifier: CA8243475
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 378639
dbSNP Id: rs146115797

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89510550C>G , CM000678.2:g.89510550C>G GRCh38
NC_000016.9:g.89576958C>G , CM000678.1:g.89576958C>G GRCh37
NC_000016.8:g.88104459C>G NCBI36
NG_008082.1:g.7154C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268704.7:c.244C>G ENSP00000268704.3:p.Gln82Glu
ENST00000562775.2:n.108C>G
ENST00000564047.2:n.253C>G
ENST00000564409.2:c.13C>G ENSP00000495297.1:p.Gln5Glu
ENST00000566371.6:c.244C>G ENSP00000454475.2:p.Gln82Glu
ENST00000569363.2:n.259C>G
ENST00000642334.1:c.117C>G
ENST00000642371.1:c.176C>G
ENST00000642436.1:n.256C>G
ENST00000643105.1:c.164C>G
ENST00000643307.1:c.244C>G ENSP00000495673.1:p.Gln82Glu
ENST00000643345.1:c.244C>G ENSP00000493982.1:p.Gln82Glu
ENST00000643649.1:c.244C>G ENSP00000494806.1:p.Gln82Glu
ENST00000643668.1:c.244C>G ENSP00000494903.1:p.Gln82Glu
ENST00000643724.1:c.244C>G ENSP00000496335.1:p.Gln82Glu
ENST00000643957.1:c.127C>G ENSP00000494246.1:p.Gln43Glu
ENST00000644210.1:c.244C>G ENSP00000495675.1:p.Gln82Glu
ENST00000644225.1:n.261C>G
ENST00000644498.1:c.244C>G ENSP00000496244.1:p.Gln82Glu
ENST00000644781.1:c.244C>G ENSP00000495473.1:p.Gln82Glu
ENST00000644901.1:c.244C>G ENSP00000493797.1:p.Gln82Glu
ENST00000645042.1:c.244C>G ENSP00000493908.1:p.Gln82Glu
ENST00000645063.1:c.244C>G ENSP00000493590.1:p.Gln82Glu
ENST00000645354.1:c.159C>G
ENST00000645533.1:c.244C>G ENSP00000495690.1:p.Gln82Glu
ENST00000645818.2:c.244C>G MANE Select ENSP00000495795.2:p.Gln82Glu
ENST00000645897.1:c.244C>G ENSP00000495293.1:p.Gln82Glu
ENST00000645977.1:n.259C>G
ENST00000646263.1:c.244C>G ENSP00000494119.1:p.Gln82Glu
ENST00000646303.1:c.112C>G ENSP00000494160.1:p.Gln38Glu
ENST00000646445.1:c.50C>G
ENST00000646531.1:c.244C>G ENSP00000495185.1:p.Gln82Glu
ENST00000646589.1:c.244C>G ENSP00000494739.1:p.Gln82Glu
ENST00000646716.1:c.244C>G ENSP00000495593.1:p.Gln82Glu
ENST00000646826.1:c.244C>G ENSP00000495123.1:p.Gln82Glu
ENST00000646930.1:c.244C>G ENSP00000495219.1:p.Gln82Glu
ENST00000646958.1:n.194C>G
ENST00000647079.1:c.-165C>G ENSP00000495967.1:n.-165C>G
ENST00000647227.1:c.49+1950C>G
ENST00000268704.6:c.244C>G ENSP00000268704.2:p.Gln82Glu
ENST00000341316.6:c.244C>G ENSP00000341157.2:p.Gln82Glu
ENST00000563783.5:n.531C>G
ENST00000566371.5:c.112C>G ENSP00000454475.1:p.Gln38Glu
ENST00000568151.1:c.340C>G ENSP00000457719.1:p.Gln114Glu
ENST00000569363.1:n.85C>G
ENST00000620811.4:c.-1333C>G ENSP00000478030.1:n.-1333C>G
NM_003119.3:c.244C>G NP_003110.1:p.Gln82Glu
NM_199367.2:c.244C>G NP_955399.1:p.Gln82Glu
XM_005256321.3:c.244C>G XP_005256378.1:p.Gln82Glu
XM_006721264.2:c.244C>G XP_006721327.1:p.Gln82Glu
XM_011523306.1:c.244C>G XP_011521608.1:p.Gln82Glu
XM_011523307.1:c.244C>G XP_011521609.1:p.Gln82Glu
NM_001363850.1:c.244C>G NP_001350779.1:p.Gln82Glu
XM_005256321.4:c.244C>G XP_005256378.1:p.Gln82Glu
XM_006721264.4:c.244C>G XP_006721327.1:p.Gln82Glu
XM_017023597.1:c.244C>G XP_016879086.1:p.Gln82Glu
XM_017023598.1:c.244C>G XP_016879087.1:p.Gln82Glu
XR_001751971.2:n.283C>G
XR_001751972.2:n.283C>G
NM_003119.4:c.244C>G MANE Select NP_003110.1:p.Gln82Glu
NM_199367.3:c.244C>G NP_955399.1:p.Gln82Glu