Canonical Allele Identifier: CA8243928
Community Standard Title: NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89531970G>A , CM000678.2:g.89531970G>A GRCh38
NC_000016.9:g.89598378G>A , CM000678.1:g.89598378G>A GRCh37
NC_000016.8:g.88125879G>A NCBI36
NG_008082.1:g.28574G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1054G>A MANE Select NP_003110.1:p.Gly352Ser
ENST00000645818.2:c.1054G>A MANE Select ENSP00000495795.2:p.Gly352Ser
NM_001363850.1:c.1054G>A NP_001350779.1:p.Gly352Ser
NM_003119.3:c.1054G>A NP_003110.1:p.Gly352Ser
NM_199367.2:c.1054G>A NP_955399.1:p.Gly352Ser
NM_199367.3:c.1054G>A NP_955399.1:p.Gly352Ser
ENST00000268704.6:c.1054G>A ENSP00000268704.2:p.Gly352Ser
ENST00000268704.7:c.1033G>A ENSP00000268704.3:p.Gly345Ser
ENST00000341316.6:c.1054G>A ENSP00000341157.2:p.Gly352Ser
ENST00000561945.1:n.98G>A
ENST00000561945.2:n.199G>A
ENST00000564409.1:n.513G>A
ENST00000564409.2:c.1110G>A ENSP00000495297.1:n.1110G>A
ENST00000566682.2:c.67G>A ENSP00000461979.2:p.Gly23Ser
ENST00000620811.4:c.-523G>A ENSP00000478030.1:n.-523G>A
ENST00000642334.1:c.927G>A
ENST00000642371.1:c.1133G>A
ENST00000642427.1:n.454G>A
ENST00000642436.1:n.389-8974G>A
ENST00000643105.1:c.974G>A
ENST00000643178.1:n.599G>A
ENST00000643307.1:c.1054G>A ENSP00000495673.1:p.Gly352Ser
ENST00000643345.1:c.*578G>A ENSP00000493982.1:n.*578G>A
ENST00000643370.1:c.325-493G>A ENSP00000494895.1:n.325-493G>A
ENST00000643496.1:n.871G>A
ENST00000643649.1:c.1054G>A ENSP00000494806.1:p.Gly352Ser
ENST00000643668.1:c.*1348G>A ENSP00000494903.1:n.*1348G>A
ENST00000643724.1:c.*497+1162G>A ENSP00000496335.1:n.*497+1162G>A
ENST00000643954.1:c.792G>A
ENST00000644171.1:n.1028G>A
ENST00000644210.1:c.1054G>A ENSP00000495675.1:p.Gly352Ser
ENST00000644225.1:n.1071G>A
ENST00000644498.1:c.1033G>A ENSP00000496244.1:p.Gly345Ser
ENST00000644671.1:c.711G>A
ENST00000644748.1:n.2485G>A
ENST00000644751.1:c.456G>A
ENST00000644781.1:c.1054G>A ENSP00000495473.1:p.Gly352Ser
ENST00000644901.1:c.*1007G>A ENSP00000493797.1:n.*1007G>A
ENST00000645042.1:c.1054G>A ENSP00000493908.1:p.Gly352Ser
ENST00000645063.1:c.1054G>A ENSP00000493590.1:p.Gly352Ser
ENST00000645354.1:c.1814G>A
ENST00000645533.1:c.*183G>A ENSP00000495690.1:n.*183G>A
ENST00000645886.1:c.281G>A
ENST00000645897.1:c.987+1162G>A ENSP00000495293.1:n.987+1162G>A
ENST00000645977.1:n.2172G>A
ENST00000646263.1:c.1054G>A ENSP00000494119.1:p.Gly352Ser
ENST00000646303.1:c.922G>A ENSP00000494160.1:p.Gly308Ser
ENST00000646399.1:c.737G>A
ENST00000646445.1:c.183-12678G>A
ENST00000646454.1:n.710+1013G>A
ENST00000646531.1:c.1054G>A ENSP00000495185.1:p.Gly352Ser
ENST00000646589.1:c.*182G>A ENSP00000494739.1:n.*182G>A
ENST00000646716.1:c.377-12678G>A ENSP00000495593.1:n.377-12678G>A
ENST00000646826.1:c.1054G>A ENSP00000495123.1:p.Gly352Ser
ENST00000646930.1:c.1054G>A ENSP00000495219.1:p.Gly352Ser
ENST00000646958.1:n.2099G>A
ENST00000647032.1:c.669G>A
ENST00000647079.1:c.646G>A ENSP00000495967.1:p.Gly216Ser
ENST00000647227.1:c.817G>A
XM_005256321.3:c.1054G>A XP_005256378.1:p.Gly352Ser
XM_005256321.4:c.1054G>A XP_005256378.1:p.Gly352Ser
XM_006721264.2:c.1054G>A XP_006721327.1:p.Gly352Ser
XM_006721264.4:c.1054G>A XP_006721327.1:p.Gly352Ser
XM_011523306.1:c.1054G>A XP_011521608.1:p.Gly352Ser
XM_011523307.1:c.1054G>A XP_011521609.1:p.Gly352Ser
XM_017023597.1:c.1054G>A XP_016879086.1:p.Gly352Ser
XM_017023598.1:c.1054G>A XP_016879087.1:p.Gly352Ser
XR_001751971.2:n.1093G>A
XR_001751972.2:n.1093G>A