Canonical Allele Identifier: CA397427780
Community Standard Title: NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89548053G>T , CM000678.2:g.89548053G>T GRCh38
NC_000016.9:g.89614461G>T , CM000678.1:g.89614461G>T GRCh37
NC_000016.8:g.88141962G>T NCBI36
NG_008082.1:g.44657G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1603G>T MANE Select NP_003110.1:p.Glu535Ter
ENST00000645818.2:c.1603G>T MANE Select ENSP00000495795.2:p.Glu535Ter
NM_001363850.1:c.1603G>T NP_001350779.1:p.Glu535Ter
NM_003119.3:c.1603G>T NP_003110.1:p.Glu535Ter
ENST00000268704.6:c.1603G>T ENSP00000268704.2:p.Glu535Ter
ENST00000268704.7:c.1582G>T ENSP00000268704.3:p.Glu528Ter
ENST00000561911.5:c.148G>T ENSP00000457387.1:p.Glu50Ter
ENST00000563218.5:n.329G>T
ENST00000563218.6:n.662G>T
ENST00000566221.5:c.201G>T
ENST00000566682.2:c.616G>T ENSP00000461979.2:p.Glu206Ter
ENST00000569820.5:c.488G>T
ENST00000569820.6:c.589G>T
ENST00000620811.4:c.27G>T ENSP00000478030.1:p.Gly9=
ENST00000642226.1:n.1452G>T
ENST00000642334.1:c.3021G>T
ENST00000642427.1:n.1003G>T
ENST00000642814.1:n.1018G>T
ENST00000642984.1:n.1199G>T
ENST00000643105.1:c.2309G>T
ENST00000643350.1:n.660G>T
ENST00000643409.1:n.2028G>T
ENST00000643496.1:n.1420G>T
ENST00000643649.1:c.1552+1293G>T ENSP00000494806.1:n.1552+1293G>T
ENST00000643668.1:c.*1897G>T ENSP00000494903.1:n.*1897G>T
ENST00000643724.1:c.*651G>T ENSP00000496335.1:n.*651G>T
ENST00000643734.1:n.4516G>T
ENST00000643954.1:c.2502G>T
ENST00000644171.1:n.2363G>T
ENST00000644210.1:c.*175G>T ENSP00000495675.1:n.*175G>T
ENST00000644225.1:n.1620G>T
ENST00000644464.1:n.256G>T
ENST00000644498.1:c.*1422G>T ENSP00000496244.1:n.*1422G>T
ENST00000644556.1:n.261-249G>T
ENST00000644671.1:c.1260G>T
ENST00000644748.1:n.6161G>T
ENST00000644751.1:c.852-2441G>T
ENST00000644781.1:c.1603G>T ENSP00000495473.1:p.Glu535Ter
ENST00000644901.1:c.*1997G>T ENSP00000493797.1:n.*1997G>T
ENST00000644930.1:n.2729G>T
ENST00000645042.1:c.*377G>T ENSP00000493908.1:n.*377G>T
ENST00000645063.1:c.1603G>T ENSP00000493590.1:p.Glu535Ter
ENST00000645354.1:c.2363G>T
ENST00000645392.1:n.1944G>T
ENST00000645742.1:n.237G>T
ENST00000645842.1:n.1448G>T
ENST00000645886.1:c.1108G>T
ENST00000645897.1:c.1141G>T ENSP00000495293.1:p.Glu381Ter
ENST00000645944.1:n.1377G>T
ENST00000645952.1:n.1468G>T
ENST00000645977.1:n.2721G>T
ENST00000646005.1:n.1361G>T
ENST00000646263.1:c.*476G>T ENSP00000494119.1:n.*476G>T
ENST00000646303.1:c.1471G>T ENSP00000494160.1:p.Glu491Ter
ENST00000646399.1:c.2497G>T
ENST00000646445.1:c.461G>T
ENST00000646454.1:n.864G>T
ENST00000646531.1:c.*226G>T ENSP00000495185.1:n.*226G>T
ENST00000646543.1:n.2357G>T
ENST00000646589.1:c.*731G>T ENSP00000494739.1:n.*731G>T
ENST00000646716.1:c.655G>T ENSP00000495593.1:p.Glu219Ter
ENST00000646826.1:c.*276G>T ENSP00000495123.1:n.*276G>T
ENST00000646930.1:c.*1532G>T ENSP00000495219.1:n.*1532G>T
ENST00000646958.1:n.2648G>T
ENST00000647032.1:c.1218G>T
ENST00000647079.1:c.1195G>T ENSP00000495967.1:p.Glu399Ter
ENST00000647123.1:n.1560G>T
ENST00000647227.1:c.1241G>T
ENST00000647302.1:n.2253G>T
ENST00000647491.1:n.1347G>T
XM_006721264.2:c.1603G>T XP_006721327.1:p.Glu535Ter
XM_006721264.4:c.1603G>T XP_006721327.1:p.Glu535Ter
XM_017023597.1:c.1603G>T XP_016879086.1:p.Glu535Ter
XM_017023598.1:c.1603G>T XP_016879087.1:p.Glu535Ter
XR_001751971.2:n.1952G>T
XR_001751972.2:n.1952G>T