Canonical Allele Identifier: CA397426517
Community Standard Title: NM_003119.4(SPG7):c.1508C>G (p.Thr503Ser)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89546716C>G , CM000678.2:g.89546716C>G GRCh38
NC_000016.9:g.89613124C>G , CM000678.1:g.89613124C>G GRCh37
NC_000016.8:g.88140625C>G NCBI36
NG_008082.1:g.43320C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1508C>G MANE Select NP_003110.1:p.Thr503Ser
ENST00000645818.2:c.1508C>G MANE Select ENSP00000495795.2:p.Thr503Ser
NM_001363850.1:c.1508C>G NP_001350779.1:p.Thr503Ser
NM_003119.3:c.1508C>G NP_003110.1:p.Thr503Ser
ENST00000268704.6:c.1508C>G ENSP00000268704.2:p.Thr503Ser
ENST00000268704.7:c.1487C>G ENSP00000268704.3:p.Thr496Ser
ENST00000561911.5:c.53C>G ENSP00000457387.1:p.Thr18Ser
ENST00000563218.5:n.234C>G
ENST00000563218.6:n.567C>G
ENST00000566221.5:c.106C>G
ENST00000566682.2:c.521C>G ENSP00000461979.2:p.Thr174Ser
ENST00000569820.5:c.393C>G
ENST00000569820.6:c.494C>G
ENST00000620811.4:c.-69C>G ENSP00000478030.1:n.-69C>G
ENST00000642226.1:n.1357C>G
ENST00000642263.1:n.259C>G
ENST00000642334.1:c.2926C>G
ENST00000642427.1:n.908C>G
ENST00000642814.1:n.923C>G
ENST00000642984.1:n.1104C>G
ENST00000643105.1:c.2214C>G
ENST00000643350.1:n.565C>G
ENST00000643370.1:c.682C>G ENSP00000494895.1:n.682C>G
ENST00000643409.1:n.1933C>G
ENST00000643496.1:n.1325C>G
ENST00000643649.1:c.1508C>G ENSP00000494806.1:p.Thr503Ser
ENST00000643668.1:c.*1802C>G ENSP00000494903.1:n.*1802C>G
ENST00000643724.1:c.*556C>G ENSP00000496335.1:n.*556C>G
ENST00000643734.1:n.4421C>G
ENST00000643954.1:c.2407C>G
ENST00000644061.1:n.466C>G
ENST00000644171.1:n.2268C>G
ENST00000644210.1:c.*80C>G ENSP00000495675.1:n.*80C>G
ENST00000644225.1:n.1525C>G
ENST00000644464.1:n.161C>G
ENST00000644498.1:c.*1327C>G ENSP00000496244.1:n.*1327C>G
ENST00000644556.1:n.261-1586C>G
ENST00000644671.1:c.1165C>G
ENST00000644748.1:n.4824C>G
ENST00000644751.1:c.851+1944C>G
ENST00000644781.1:c.1508C>G ENSP00000495473.1:p.Thr503Ser
ENST00000644901.1:c.*1902C>G ENSP00000493797.1:n.*1902C>G
ENST00000644930.1:n.2634C>G
ENST00000645042.1:c.*282C>G ENSP00000493908.1:n.*282C>G
ENST00000645063.1:c.1508C>G ENSP00000493590.1:p.Thr503Ser
ENST00000645354.1:c.2268C>G
ENST00000645392.1:n.1849C>G
ENST00000645742.1:n.142C>G
ENST00000645842.1:n.1353C>G
ENST00000645886.1:c.1013C>G
ENST00000645897.1:c.1046C>G ENSP00000495293.1:p.Thr349Ser
ENST00000645944.1:n.1282C>G
ENST00000645952.1:n.1373C>G
ENST00000645977.1:n.2626C>G
ENST00000646005.1:n.1266C>G
ENST00000646263.1:c.*381C>G ENSP00000494119.1:n.*381C>G
ENST00000646303.1:c.1376C>G ENSP00000494160.1:p.Thr459Ser
ENST00000646399.1:c.2402C>G
ENST00000646445.1:c.366C>G
ENST00000646454.1:n.769C>G
ENST00000646531.1:c.*131C>G ENSP00000495185.1:n.*131C>G
ENST00000646543.1:n.2262C>G
ENST00000646589.1:c.*636C>G ENSP00000494739.1:n.*636C>G
ENST00000646716.1:c.560C>G ENSP00000495593.1:p.Thr187Ser
ENST00000646826.1:c.*181C>G ENSP00000495123.1:n.*181C>G
ENST00000646930.1:c.*1437C>G ENSP00000495219.1:n.*1437C>G
ENST00000646958.1:n.2553C>G
ENST00000647032.1:c.1123C>G
ENST00000647079.1:c.1100C>G ENSP00000495967.1:p.Thr367Ser
ENST00000647123.1:n.1465C>G
ENST00000647227.1:c.1146C>G
ENST00000647302.1:n.2158C>G
ENST00000647491.1:n.1252C>G
XM_006721264.2:c.1508C>G XP_006721327.1:p.Thr503Ser
XM_006721264.4:c.1508C>G XP_006721327.1:p.Thr503Ser
XM_017023597.1:c.1508C>G XP_016879086.1:p.Thr503Ser
XM_017023598.1:c.1508C>G XP_016879087.1:p.Thr503Ser
XR_001751971.2:n.1857C>G
XR_001751972.2:n.1857C>G