Canonical Allele Identifier: CA8244006
Community Standard Title: NM_003119.4(SPG7):c.1236G>A (p.Ala412=)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89532548G>A , CM000678.2:g.89532548G>A GRCh38
NC_000016.9:g.89598956G>A , CM000678.1:g.89598956G>A GRCh37
NC_000016.8:g.88126457G>A NCBI36
NG_008082.1:g.29152G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1236G>A MANE Select NP_003110.1:p.Ala412=
ENST00000645818.2:c.1236G>A MANE Select ENSP00000495795.2:p.Ala412=
NM_001363850.1:c.1236G>A NP_001350779.1:p.Ala412=
NM_003119.3:c.1236G>A NP_003110.1:p.Ala412=
NM_199367.2:c.1236G>A NP_955399.1:p.Ala412=
NM_199367.3:c.1236G>A NP_955399.1:p.Ala412=
ENST00000268704.6:c.1236G>A ENSP00000268704.2:p.Ala412=
ENST00000268704.7:c.1215G>A ENSP00000268704.3:p.Ala405=
ENST00000341316.6:c.1236G>A ENSP00000341157.2:p.Ala412=
ENST00000561945.1:n.280G>A
ENST00000561945.2:n.381G>A
ENST00000564409.1:n.695G>A
ENST00000564409.2:c.1292G>A ENSP00000495297.1:n.1292G>A
ENST00000566682.2:c.249G>A ENSP00000461979.2:p.Ala83=
ENST00000567138.2:c.118G>A
ENST00000567138.3:c.133G>A
ENST00000620811.4:c.-341G>A ENSP00000478030.1:n.-341G>A
ENST00000642334.1:c.1109G>A
ENST00000642427.1:n.636G>A
ENST00000642436.1:n.389-8396G>A
ENST00000643105.1:c.1156G>A
ENST00000643307.1:c.1236G>A ENSP00000495673.1:p.Ala412=
ENST00000643345.1:c.*760G>A ENSP00000493982.1:n.*760G>A
ENST00000643370.1:c.410G>A ENSP00000494895.1:p.Arg137Gln
ENST00000643496.1:n.1053G>A
ENST00000643649.1:c.1236G>A ENSP00000494806.1:p.Ala412=
ENST00000643668.1:c.*1530G>A ENSP00000494903.1:n.*1530G>A
ENST00000643724.1:c.*497+1740G>A ENSP00000496335.1:n.*497+1740G>A
ENST00000643954.1:c.974G>A
ENST00000644044.1:c.14G>A
ENST00000644171.1:n.1210G>A
ENST00000644210.1:c.1236G>A ENSP00000495675.1:p.Ala412=
ENST00000644225.1:n.1253G>A
ENST00000644498.1:c.1215G>A ENSP00000496244.1:p.Ala405=
ENST00000644671.1:c.893G>A
ENST00000644748.1:n.2667G>A
ENST00000644751.1:c.638G>A
ENST00000644781.1:c.1236G>A ENSP00000495473.1:p.Ala412=
ENST00000644901.1:c.*1189G>A ENSP00000493797.1:n.*1189G>A
ENST00000645042.1:c.1236G>A ENSP00000493908.1:p.Ala412=
ENST00000645063.1:c.1236G>A ENSP00000493590.1:p.Ala412=
ENST00000645258.1:c.167G>A
ENST00000645354.1:c.1996G>A
ENST00000645886.1:c.463G>A
ENST00000645897.1:c.987+1740G>A ENSP00000495293.1:n.987+1740G>A
ENST00000645977.1:n.2354G>A
ENST00000646263.1:c.1236G>A ENSP00000494119.1:p.Ala412=
ENST00000646303.1:c.1104G>A ENSP00000494160.1:p.Ala368=
ENST00000646399.1:c.919G>A
ENST00000646445.1:c.183-12100G>A
ENST00000646454.1:n.710+1591G>A
ENST00000646531.1:c.1236G>A ENSP00000495185.1:p.Ala412=
ENST00000646589.1:c.*364G>A ENSP00000494739.1:n.*364G>A
ENST00000646716.1:c.377-12100G>A ENSP00000495593.1:n.377-12100G>A
ENST00000646826.1:c.1236G>A ENSP00000495123.1:p.Ala412=
ENST00000646930.1:c.1236G>A ENSP00000495219.1:p.Ala412=
ENST00000646958.1:n.2281G>A
ENST00000647032.1:c.851G>A
ENST00000647079.1:c.828G>A ENSP00000495967.1:p.Ala276=
ENST00000647227.1:c.999G>A
XM_005256321.3:c.1236G>A XP_005256378.1:p.Ala412=
XM_005256321.4:c.1236G>A XP_005256378.1:p.Ala412=
XM_006721264.2:c.1236G>A XP_006721327.1:p.Ala412=
XM_006721264.4:c.1236G>A XP_006721327.1:p.Ala412=
XM_011523306.1:c.1236G>A XP_011521608.1:p.Ala412=
XM_011523307.1:c.1236G>A XP_011521609.1:p.Ala412=
XM_017023597.1:c.1236G>A XP_016879086.1:p.Ala412=
XM_017023598.1:c.1236G>A XP_016879087.1:p.Ala412=
XR_001751971.2:n.1275G>A
XR_001751972.2:n.1275G>A