Canonical Allele Identifier: CA8243834
Community Standard Title: NM_003119.4(SPG7):c.878C>T (p.Ala293Val)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89530699C>T , CM000678.2:g.89530699C>T GRCh38
NC_000016.9:g.89597107C>T , CM000678.1:g.89597107C>T GRCh37
NC_000016.8:g.88124608C>T NCBI36
NG_008082.1:g.27303C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.878C>T MANE Select NP_003110.1:p.Ala293Val
ENST00000645818.2:c.878C>T MANE Select ENSP00000495795.2:p.Ala293Val
NM_001363850.1:c.878C>T NP_001350779.1:p.Ala293Val
NM_003119.3:c.878C>T NP_003110.1:p.Ala293Val
NM_199367.2:c.878C>T NP_955399.1:p.Ala293Val
NM_199367.3:c.878C>T NP_955399.1:p.Ala293Val
ENST00000268704.6:c.878C>T ENSP00000268704.2:p.Ala293Val
ENST00000268704.7:c.878C>T ENSP00000268704.3:p.Ala293Val
ENST00000341316.6:c.878C>T ENSP00000341157.2:p.Ala293Val
ENST00000561945.2:n.23C>T
ENST00000564047.2:n.1990C>T
ENST00000564409.1:n.337C>T
ENST00000564409.2:c.934C>T ENSP00000495297.1:n.934C>T
ENST00000566371.6:c.635C>T ENSP00000454475.2:p.Ala212Val
ENST00000620811.4:c.-699C>T ENSP00000478030.1:n.-699C>T
ENST00000642334.1:c.751C>T
ENST00000642371.1:c.957C>T
ENST00000642427.1:n.278C>T
ENST00000642436.1:n.389-10245C>T
ENST00000643105.1:c.798C>T
ENST00000643178.1:n.423C>T
ENST00000643307.1:c.878C>T ENSP00000495673.1:p.Ala293Val
ENST00000643345.1:c.*402C>T ENSP00000493982.1:n.*402C>T
ENST00000643370.1:c.215C>T ENSP00000494895.1:p.Ala72Val
ENST00000643496.1:n.695C>T
ENST00000643649.1:c.878C>T ENSP00000494806.1:p.Ala293Val
ENST00000643668.1:c.*1172C>T ENSP00000494903.1:n.*1172C>T
ENST00000643724.1:c.*388C>T ENSP00000496335.1:n.*388C>T
ENST00000643954.1:c.616C>T
ENST00000644210.1:c.878C>T ENSP00000495675.1:p.Ala293Val
ENST00000644225.1:n.895C>T
ENST00000644498.1:c.878C>T ENSP00000496244.1:p.Ala293Val
ENST00000644671.1:c.535C>T
ENST00000644748.1:n.2309C>T
ENST00000644751.1:c.280C>T
ENST00000644781.1:c.878C>T ENSP00000495473.1:p.Ala293Val
ENST00000644901.1:c.*831C>T ENSP00000493797.1:n.*831C>T
ENST00000645042.1:c.878C>T ENSP00000493908.1:p.Ala293Val
ENST00000645063.1:c.878C>T ENSP00000493590.1:p.Ala293Val
ENST00000645354.1:c.1638C>T
ENST00000645533.1:c.878C>T ENSP00000495690.1:p.Ala293Val
ENST00000645886.1:c.105C>T
ENST00000645897.1:c.878C>T ENSP00000495293.1:p.Ala293Val
ENST00000645977.1:n.1996C>T
ENST00000646263.1:c.878C>T ENSP00000494119.1:p.Ala293Val
ENST00000646303.1:c.746C>T ENSP00000494160.1:p.Ala249Val
ENST00000646399.1:c.561C>T
ENST00000646445.1:c.183-13949C>T
ENST00000646454.1:n.452C>T
ENST00000646531.1:c.878C>T ENSP00000495185.1:p.Ala293Val
ENST00000646589.1:c.*6C>T ENSP00000494739.1:n.*6C>T
ENST00000646716.1:c.377-13949C>T ENSP00000495593.1:n.377-13949C>T
ENST00000646826.1:c.878C>T ENSP00000495123.1:p.Ala293Val
ENST00000646930.1:c.878C>T ENSP00000495219.1:p.Ala293Val
ENST00000646958.1:n.828C>T
ENST00000647032.1:c.493C>T
ENST00000647079.1:c.470C>T ENSP00000495967.1:p.Ala157Val
ENST00000647227.1:c.641C>T
XM_005256321.3:c.878C>T XP_005256378.1:p.Ala293Val
XM_005256321.4:c.878C>T XP_005256378.1:p.Ala293Val
XM_006721264.2:c.878C>T XP_006721327.1:p.Ala293Val
XM_006721264.4:c.878C>T XP_006721327.1:p.Ala293Val
XM_011523306.1:c.878C>T XP_011521608.1:p.Ala293Val
XM_011523307.1:c.878C>T XP_011521609.1:p.Ala293Val
XM_017023597.1:c.878C>T XP_016879086.1:p.Ala293Val
XM_017023598.1:c.878C>T XP_016879087.1:p.Ala293Val
XR_001751971.2:n.917C>T
XR_001751972.2:n.917C>T