Canonical Allele Identifier: CA397426590
Community Standard Title: NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89546743T>C , CM000678.2:g.89546743T>C GRCh38
NC_000016.9:g.89613151T>C , CM000678.1:g.89613151T>C GRCh37
NC_000016.8:g.88140652T>C NCBI36
NG_008082.1:g.43347T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1535T>C MANE Select NP_003110.1:p.Leu512Pro
ENST00000645818.2:c.1535T>C MANE Select ENSP00000495795.2:p.Leu512Pro
NM_001363850.1:c.1535T>C NP_001350779.1:p.Leu512Pro
NM_003119.3:c.1535T>C NP_003110.1:p.Leu512Pro
ENST00000268704.6:c.1535T>C ENSP00000268704.2:p.Leu512Pro
ENST00000268704.7:c.1514T>C ENSP00000268704.3:p.Leu505Pro
ENST00000561911.5:c.80T>C ENSP00000457387.1:p.Leu27Pro
ENST00000563218.5:n.261T>C
ENST00000563218.6:n.594T>C
ENST00000566221.5:c.133T>C
ENST00000566682.2:c.548T>C ENSP00000461979.2:p.Leu183Pro
ENST00000569820.5:c.420T>C
ENST00000569820.6:c.521T>C
ENST00000620811.4:c.-42T>C ENSP00000478030.1:n.-42T>C
ENST00000642226.1:n.1384T>C
ENST00000642263.1:n.286T>C
ENST00000642334.1:c.2953T>C
ENST00000642427.1:n.935T>C
ENST00000642814.1:n.950T>C
ENST00000642984.1:n.1131T>C
ENST00000643105.1:c.2241T>C
ENST00000643350.1:n.592T>C
ENST00000643370.1:c.709T>C ENSP00000494895.1:n.709T>C
ENST00000643409.1:n.1960T>C
ENST00000643496.1:n.1352T>C
ENST00000643649.1:c.1535T>C ENSP00000494806.1:p.Leu512Pro
ENST00000643668.1:c.*1829T>C ENSP00000494903.1:n.*1829T>C
ENST00000643724.1:c.*583T>C ENSP00000496335.1:n.*583T>C
ENST00000643734.1:n.4448T>C
ENST00000643954.1:c.2434T>C
ENST00000644061.1:n.493T>C
ENST00000644171.1:n.2295T>C
ENST00000644210.1:c.*107T>C ENSP00000495675.1:n.*107T>C
ENST00000644225.1:n.1552T>C
ENST00000644464.1:n.188T>C
ENST00000644498.1:c.*1354T>C ENSP00000496244.1:n.*1354T>C
ENST00000644556.1:n.261-1559T>C
ENST00000644671.1:c.1192T>C
ENST00000644748.1:n.4851T>C
ENST00000644751.1:c.851+1971T>C
ENST00000644781.1:c.1535T>C ENSP00000495473.1:p.Leu512Pro
ENST00000644901.1:c.*1929T>C ENSP00000493797.1:n.*1929T>C
ENST00000644930.1:n.2661T>C
ENST00000645042.1:c.*309T>C ENSP00000493908.1:n.*309T>C
ENST00000645063.1:c.1535T>C ENSP00000493590.1:p.Leu512Pro
ENST00000645354.1:c.2295T>C
ENST00000645392.1:n.1876T>C
ENST00000645742.1:n.169T>C
ENST00000645842.1:n.1380T>C
ENST00000645886.1:c.1040T>C
ENST00000645897.1:c.1073T>C ENSP00000495293.1:p.Leu358Pro
ENST00000645944.1:n.1309T>C
ENST00000645952.1:n.1400T>C
ENST00000645977.1:n.2653T>C
ENST00000646005.1:n.1293T>C
ENST00000646263.1:c.*408T>C ENSP00000494119.1:n.*408T>C
ENST00000646303.1:c.1403T>C ENSP00000494160.1:p.Leu468Pro
ENST00000646399.1:c.2429T>C
ENST00000646445.1:c.393T>C
ENST00000646454.1:n.796T>C
ENST00000646531.1:c.*158T>C ENSP00000495185.1:n.*158T>C
ENST00000646543.1:n.2289T>C
ENST00000646589.1:c.*663T>C ENSP00000494739.1:n.*663T>C
ENST00000646716.1:c.587T>C ENSP00000495593.1:p.Leu196Pro
ENST00000646826.1:c.*208T>C ENSP00000495123.1:n.*208T>C
ENST00000646930.1:c.*1464T>C ENSP00000495219.1:n.*1464T>C
ENST00000646958.1:n.2580T>C
ENST00000647032.1:c.1150T>C
ENST00000647079.1:c.1127T>C ENSP00000495967.1:p.Leu376Pro
ENST00000647123.1:n.1492T>C
ENST00000647227.1:c.1173T>C
ENST00000647302.1:n.2185T>C
ENST00000647491.1:n.1279T>C
XM_006721264.2:c.1535T>C XP_006721327.1:p.Leu512Pro
XM_006721264.4:c.1535T>C XP_006721327.1:p.Leu512Pro
XM_017023597.1:c.1535T>C XP_016879086.1:p.Leu512Pro
XM_017023598.1:c.1535T>C XP_016879087.1:p.Leu512Pro
XR_001751971.2:n.1884T>C
XR_001751972.2:n.1884T>C