Canonical Allele Identifier: CA286544554
Community Standard Title: NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89531991G>C , CM000678.2:g.89531991G>C GRCh38
NC_000016.9:g.89598399G>C , CM000678.1:g.89598399G>C GRCh37
NC_000016.8:g.88125900G>C NCBI36
NG_008082.1:g.28595G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1075G>C MANE Select NP_003110.1:p.Ala359Pro
ENST00000645818.2:c.1075G>C MANE Select ENSP00000495795.2:p.Ala359Pro
NM_001363850.1:c.1075G>C NP_001350779.1:p.Ala359Pro
NM_003119.3:c.1075G>C NP_003110.1:p.Ala359Pro
NM_199367.2:c.1075G>C NP_955399.1:p.Ala359Pro
NM_199367.3:c.1075G>C NP_955399.1:p.Ala359Pro
ENST00000268704.6:c.1075G>C ENSP00000268704.2:p.Ala359Pro
ENST00000268704.7:c.1054G>C ENSP00000268704.3:p.Ala352Pro
ENST00000341316.6:c.1075G>C ENSP00000341157.2:p.Ala359Pro
ENST00000561945.1:n.119G>C
ENST00000561945.2:n.220G>C
ENST00000564409.1:n.534G>C
ENST00000564409.2:c.1131G>C ENSP00000495297.1:n.1131G>C
ENST00000566682.2:c.88G>C ENSP00000461979.2:p.Ala30Pro
ENST00000620811.4:c.-502G>C ENSP00000478030.1:n.-502G>C
ENST00000642334.1:c.948G>C
ENST00000642371.1:c.1154G>C
ENST00000642427.1:n.475G>C
ENST00000642436.1:n.389-8953G>C
ENST00000643105.1:c.995G>C
ENST00000643178.1:n.620G>C
ENST00000643307.1:c.1075G>C ENSP00000495673.1:p.Ala359Pro
ENST00000643345.1:c.*599G>C ENSP00000493982.1:n.*599G>C
ENST00000643370.1:c.325-472G>C ENSP00000494895.1:n.325-472G>C
ENST00000643496.1:n.892G>C
ENST00000643649.1:c.1075G>C ENSP00000494806.1:p.Ala359Pro
ENST00000643668.1:c.*1369G>C ENSP00000494903.1:n.*1369G>C
ENST00000643724.1:c.*497+1183G>C ENSP00000496335.1:n.*497+1183G>C
ENST00000643954.1:c.813G>C
ENST00000644171.1:n.1049G>C
ENST00000644210.1:c.1075G>C ENSP00000495675.1:p.Ala359Pro
ENST00000644225.1:n.1092G>C
ENST00000644498.1:c.1054G>C ENSP00000496244.1:p.Ala352Pro
ENST00000644671.1:c.732G>C
ENST00000644748.1:n.2506G>C
ENST00000644751.1:c.477G>C
ENST00000644781.1:c.1075G>C ENSP00000495473.1:p.Ala359Pro
ENST00000644901.1:c.*1028G>C ENSP00000493797.1:n.*1028G>C
ENST00000645042.1:c.1075G>C ENSP00000493908.1:p.Ala359Pro
ENST00000645063.1:c.1075G>C ENSP00000493590.1:p.Ala359Pro
ENST00000645258.1:c.6G>C
ENST00000645354.1:c.1835G>C
ENST00000645886.1:c.302G>C
ENST00000645897.1:c.987+1183G>C ENSP00000495293.1:n.987+1183G>C
ENST00000645977.1:n.2193G>C
ENST00000646263.1:c.1075G>C ENSP00000494119.1:p.Ala359Pro
ENST00000646303.1:c.943G>C ENSP00000494160.1:p.Ala315Pro
ENST00000646399.1:c.758G>C
ENST00000646445.1:c.183-12657G>C
ENST00000646454.1:n.710+1034G>C
ENST00000646531.1:c.1075G>C ENSP00000495185.1:p.Ala359Pro
ENST00000646589.1:c.*203G>C ENSP00000494739.1:n.*203G>C
ENST00000646716.1:c.377-12657G>C ENSP00000495593.1:n.377-12657G>C
ENST00000646826.1:c.1075G>C ENSP00000495123.1:p.Ala359Pro
ENST00000646930.1:c.1075G>C ENSP00000495219.1:p.Ala359Pro
ENST00000646958.1:n.2120G>C
ENST00000647032.1:c.690G>C
ENST00000647079.1:c.667G>C ENSP00000495967.1:p.Ala223Pro
ENST00000647227.1:c.838G>C
XM_005256321.3:c.1075G>C XP_005256378.1:p.Ala359Pro
XM_005256321.4:c.1075G>C XP_005256378.1:p.Ala359Pro
XM_006721264.2:c.1075G>C XP_006721327.1:p.Ala359Pro
XM_006721264.4:c.1075G>C XP_006721327.1:p.Ala359Pro
XM_011523306.1:c.1075G>C XP_011521608.1:p.Ala359Pro
XM_011523307.1:c.1075G>C XP_011521609.1:p.Ala359Pro
XM_017023597.1:c.1075G>C XP_016879086.1:p.Ala359Pro
XM_017023598.1:c.1075G>C XP_016879087.1:p.Ala359Pro
XR_001751971.2:n.1114G>C
XR_001751972.2:n.1114G>C