Canonical Allele Identifier: CA397420659
Community Standard Title: NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89532481T>C , CM000678.2:g.89532481T>C GRCh38
NC_000016.9:g.89598889T>C , CM000678.1:g.89598889T>C GRCh37
NC_000016.8:g.88126390T>C NCBI36
NG_008082.1:g.29085T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1169T>C MANE Select NP_003110.1:p.Val390Ala
ENST00000645818.2:c.1169T>C MANE Select ENSP00000495795.2:p.Val390Ala
NM_001363850.1:c.1169T>C NP_001350779.1:p.Val390Ala
NM_003119.3:c.1169T>C NP_003110.1:p.Val390Ala
NM_199367.2:c.1169T>C NP_955399.1:p.Val390Ala
NM_199367.3:c.1169T>C NP_955399.1:p.Val390Ala
ENST00000268704.6:c.1169T>C ENSP00000268704.2:p.Val390Ala
ENST00000268704.7:c.1148T>C ENSP00000268704.3:p.Val383Ala
ENST00000341316.6:c.1169T>C ENSP00000341157.2:p.Val390Ala
ENST00000561945.1:n.213T>C
ENST00000561945.2:n.314T>C
ENST00000564409.1:n.628T>C
ENST00000564409.2:c.1225T>C ENSP00000495297.1:n.1225T>C
ENST00000566682.2:c.182T>C ENSP00000461979.2:p.Val61Ala
ENST00000567138.2:c.51T>C
ENST00000567138.3:c.66T>C
ENST00000620811.4:c.-408T>C ENSP00000478030.1:n.-408T>C
ENST00000642334.1:c.1042T>C
ENST00000642371.1:c.1248T>C
ENST00000642427.1:n.569T>C
ENST00000642436.1:n.389-8463T>C
ENST00000643105.1:c.1089T>C
ENST00000643307.1:c.1169T>C ENSP00000495673.1:p.Val390Ala
ENST00000643345.1:c.*693T>C ENSP00000493982.1:n.*693T>C
ENST00000643370.1:c.343T>C ENSP00000494895.1:p.Cys115Arg
ENST00000643496.1:n.986T>C
ENST00000643649.1:c.1169T>C ENSP00000494806.1:p.Val390Ala
ENST00000643668.1:c.*1463T>C ENSP00000494903.1:n.*1463T>C
ENST00000643724.1:c.*497+1673T>C ENSP00000496335.1:n.*497+1673T>C
ENST00000643954.1:c.907T>C
ENST00000644171.1:n.1143T>C
ENST00000644210.1:c.1169T>C ENSP00000495675.1:p.Val390Ala
ENST00000644225.1:n.1186T>C
ENST00000644498.1:c.1148T>C ENSP00000496244.1:p.Val383Ala
ENST00000644671.1:c.826T>C
ENST00000644748.1:n.2600T>C
ENST00000644751.1:c.571T>C
ENST00000644781.1:c.1169T>C ENSP00000495473.1:p.Val390Ala
ENST00000644901.1:c.*1122T>C ENSP00000493797.1:n.*1122T>C
ENST00000645042.1:c.1169T>C ENSP00000493908.1:p.Val390Ala
ENST00000645063.1:c.1169T>C ENSP00000493590.1:p.Val390Ala
ENST00000645258.1:c.100T>C
ENST00000645354.1:c.1929T>C
ENST00000645886.1:c.396T>C
ENST00000645897.1:c.987+1673T>C ENSP00000495293.1:n.987+1673T>C
ENST00000645977.1:n.2287T>C
ENST00000646263.1:c.1169T>C ENSP00000494119.1:p.Val390Ala
ENST00000646303.1:c.1037T>C ENSP00000494160.1:p.Val346Ala
ENST00000646399.1:c.852T>C
ENST00000646445.1:c.183-12167T>C
ENST00000646454.1:n.710+1524T>C
ENST00000646531.1:c.1169T>C ENSP00000495185.1:p.Val390Ala
ENST00000646589.1:c.*297T>C ENSP00000494739.1:n.*297T>C
ENST00000646716.1:c.377-12167T>C ENSP00000495593.1:n.377-12167T>C
ENST00000646826.1:c.1169T>C ENSP00000495123.1:p.Val390Ala
ENST00000646930.1:c.1169T>C ENSP00000495219.1:p.Val390Ala
ENST00000646958.1:n.2214T>C
ENST00000647032.1:c.784T>C
ENST00000647079.1:c.761T>C ENSP00000495967.1:p.Val254Ala
ENST00000647227.1:c.932T>C
XM_005256321.3:c.1169T>C XP_005256378.1:p.Val390Ala
XM_005256321.4:c.1169T>C XP_005256378.1:p.Val390Ala
XM_006721264.2:c.1169T>C XP_006721327.1:p.Val390Ala
XM_006721264.4:c.1169T>C XP_006721327.1:p.Val390Ala
XM_011523306.1:c.1169T>C XP_011521608.1:p.Val390Ala
XM_011523307.1:c.1169T>C XP_011521609.1:p.Val390Ala
XM_017023597.1:c.1169T>C XP_016879086.1:p.Val390Ala
XM_017023598.1:c.1169T>C XP_016879087.1:p.Val390Ala
XR_001751971.2:n.1208T>C
XR_001751972.2:n.1208T>C