Canonical Allele Identifier: CA397426347
Community Standard Title: NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89546679C>T , CM000678.2:g.89546679C>T GRCh38
NC_000016.9:g.89613087C>T , CM000678.1:g.89613087C>T GRCh37
NC_000016.8:g.88140588C>T NCBI36
NG_008082.1:g.43283C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1471C>T MANE Select NP_003110.1:p.Gln491Ter
ENST00000645818.2:c.1471C>T MANE Select ENSP00000495795.2:p.Gln491Ter
NM_001363850.1:c.1471C>T NP_001350779.1:p.Gln491Ter
NM_003119.3:c.1471C>T NP_003110.1:p.Gln491Ter
ENST00000268704.6:c.1471C>T ENSP00000268704.2:p.Gln491Ter
ENST00000268704.7:c.1450C>T ENSP00000268704.3:p.Gln484Ter
ENST00000561911.5:c.16C>T ENSP00000457387.1:p.Gln6Ter
ENST00000563218.5:n.197C>T
ENST00000563218.6:n.530C>T
ENST00000566221.5:c.69C>T
ENST00000566682.2:c.484C>T ENSP00000461979.2:p.Gln162Ter
ENST00000569820.5:c.356C>T
ENST00000569820.6:c.457C>T
ENST00000620811.4:c.-106C>T ENSP00000478030.1:n.-106C>T
ENST00000642226.1:n.1320C>T
ENST00000642263.1:n.222C>T
ENST00000642334.1:c.2889C>T
ENST00000642427.1:n.871C>T
ENST00000642814.1:n.886C>T
ENST00000642984.1:n.1067C>T
ENST00000643105.1:c.2177C>T
ENST00000643350.1:n.528C>T
ENST00000643370.1:c.645C>T ENSP00000494895.1:n.645C>T
ENST00000643409.1:n.1896C>T
ENST00000643496.1:n.1288C>T
ENST00000643649.1:c.1471C>T ENSP00000494806.1:p.Gln491Ter
ENST00000643668.1:c.*1765C>T ENSP00000494903.1:n.*1765C>T
ENST00000643724.1:c.*519C>T ENSP00000496335.1:n.*519C>T
ENST00000643734.1:n.4384C>T
ENST00000643954.1:c.2370C>T
ENST00000644061.1:n.429C>T
ENST00000644171.1:n.2231C>T
ENST00000644210.1:c.*43C>T ENSP00000495675.1:n.*43C>T
ENST00000644225.1:n.1488C>T
ENST00000644464.1:n.124C>T
ENST00000644498.1:c.*1290C>T ENSP00000496244.1:n.*1290C>T
ENST00000644556.1:n.261-1623C>T
ENST00000644671.1:c.1128C>T
ENST00000644748.1:n.4787C>T
ENST00000644751.1:c.851+1907C>T
ENST00000644781.1:c.1471C>T ENSP00000495473.1:p.Gln491Ter
ENST00000644901.1:c.*1865C>T ENSP00000493797.1:n.*1865C>T
ENST00000644930.1:n.2597C>T
ENST00000645042.1:c.*245C>T ENSP00000493908.1:n.*245C>T
ENST00000645063.1:c.1471C>T ENSP00000493590.1:p.Gln491Ter
ENST00000645354.1:c.2231C>T
ENST00000645392.1:n.1812C>T
ENST00000645742.1:n.105C>T
ENST00000645842.1:n.1316C>T
ENST00000645886.1:c.976C>T
ENST00000645897.1:c.1009C>T ENSP00000495293.1:p.Gln337Ter
ENST00000645944.1:n.1245C>T
ENST00000645952.1:n.1336C>T
ENST00000645977.1:n.2589C>T
ENST00000646005.1:n.1229C>T
ENST00000646263.1:c.*344C>T ENSP00000494119.1:n.*344C>T
ENST00000646303.1:c.1339C>T ENSP00000494160.1:p.Gln447Ter
ENST00000646399.1:c.2365C>T
ENST00000646445.1:c.329C>T
ENST00000646454.1:n.732C>T
ENST00000646531.1:c.*94C>T ENSP00000495185.1:n.*94C>T
ENST00000646543.1:n.2225C>T
ENST00000646589.1:c.*599C>T ENSP00000494739.1:n.*599C>T
ENST00000646716.1:c.523C>T ENSP00000495593.1:p.Gln175Ter
ENST00000646826.1:c.*144C>T ENSP00000495123.1:n.*144C>T
ENST00000646930.1:c.*1400C>T ENSP00000495219.1:n.*1400C>T
ENST00000646958.1:n.2516C>T
ENST00000647032.1:c.1086C>T
ENST00000647079.1:c.1063C>T ENSP00000495967.1:p.Gln355Ter
ENST00000647123.1:n.1428C>T
ENST00000647227.1:c.1109C>T
ENST00000647302.1:n.2121C>T
ENST00000647491.1:n.1215C>T
XM_006721264.2:c.1471C>T XP_006721327.1:p.Gln491Ter
XM_006721264.4:c.1471C>T XP_006721327.1:p.Gln491Ter
XM_017023597.1:c.1471C>T XP_016879086.1:p.Gln491Ter
XM_017023598.1:c.1471C>T XP_016879087.1:p.Gln491Ter
XR_001751971.2:n.1820C>T
XR_001751972.2:n.1820C>T