Canonical Allele Identifier: CA397426551
Community Standard Title: NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89546727C>T , CM000678.2:g.89546727C>T GRCh38
NC_000016.9:g.89613135C>T , CM000678.1:g.89613135C>T GRCh37
NC_000016.8:g.88140636C>T NCBI36
NG_008082.1:g.43331C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1519C>T MANE Select NP_003110.1:p.Gln507Ter
ENST00000645818.2:c.1519C>T MANE Select ENSP00000495795.2:p.Gln507Ter
NM_001363850.1:c.1519C>T NP_001350779.1:p.Gln507Ter
NM_003119.3:c.1519C>T NP_003110.1:p.Gln507Ter
ENST00000268704.6:c.1519C>T ENSP00000268704.2:p.Gln507Ter
ENST00000268704.7:c.1498C>T ENSP00000268704.3:p.Gln500Ter
ENST00000561911.5:c.64C>T ENSP00000457387.1:p.Gln22Ter
ENST00000563218.5:n.245C>T
ENST00000563218.6:n.578C>T
ENST00000566221.5:c.117C>T
ENST00000566682.2:c.532C>T ENSP00000461979.2:p.Gln178Ter
ENST00000569820.5:c.404C>T
ENST00000569820.6:c.505C>T
ENST00000620811.4:c.-58C>T ENSP00000478030.1:n.-58C>T
ENST00000642226.1:n.1368C>T
ENST00000642263.1:n.270C>T
ENST00000642334.1:c.2937C>T
ENST00000642427.1:n.919C>T
ENST00000642814.1:n.934C>T
ENST00000642984.1:n.1115C>T
ENST00000643105.1:c.2225C>T
ENST00000643350.1:n.576C>T
ENST00000643370.1:c.693C>T ENSP00000494895.1:n.693C>T
ENST00000643409.1:n.1944C>T
ENST00000643496.1:n.1336C>T
ENST00000643649.1:c.1519C>T ENSP00000494806.1:p.Gln507Ter
ENST00000643668.1:c.*1813C>T ENSP00000494903.1:n.*1813C>T
ENST00000643724.1:c.*567C>T ENSP00000496335.1:n.*567C>T
ENST00000643734.1:n.4432C>T
ENST00000643954.1:c.2418C>T
ENST00000644061.1:n.477C>T
ENST00000644171.1:n.2279C>T
ENST00000644210.1:c.*91C>T ENSP00000495675.1:n.*91C>T
ENST00000644225.1:n.1536C>T
ENST00000644464.1:n.172C>T
ENST00000644498.1:c.*1338C>T ENSP00000496244.1:n.*1338C>T
ENST00000644556.1:n.261-1575C>T
ENST00000644671.1:c.1176C>T
ENST00000644748.1:n.4835C>T
ENST00000644751.1:c.851+1955C>T
ENST00000644781.1:c.1519C>T ENSP00000495473.1:p.Gln507Ter
ENST00000644901.1:c.*1913C>T ENSP00000493797.1:n.*1913C>T
ENST00000644930.1:n.2645C>T
ENST00000645042.1:c.*293C>T ENSP00000493908.1:n.*293C>T
ENST00000645063.1:c.1519C>T ENSP00000493590.1:p.Gln507Ter
ENST00000645354.1:c.2279C>T
ENST00000645392.1:n.1860C>T
ENST00000645742.1:n.153C>T
ENST00000645842.1:n.1364C>T
ENST00000645886.1:c.1024C>T
ENST00000645897.1:c.1057C>T ENSP00000495293.1:p.Gln353Ter
ENST00000645944.1:n.1293C>T
ENST00000645952.1:n.1384C>T
ENST00000645977.1:n.2637C>T
ENST00000646005.1:n.1277C>T
ENST00000646263.1:c.*392C>T ENSP00000494119.1:n.*392C>T
ENST00000646303.1:c.1387C>T ENSP00000494160.1:p.Gln463Ter
ENST00000646399.1:c.2413C>T
ENST00000646445.1:c.377C>T
ENST00000646454.1:n.780C>T
ENST00000646531.1:c.*142C>T ENSP00000495185.1:n.*142C>T
ENST00000646543.1:n.2273C>T
ENST00000646589.1:c.*647C>T ENSP00000494739.1:n.*647C>T
ENST00000646716.1:c.571C>T ENSP00000495593.1:p.Gln191Ter
ENST00000646826.1:c.*192C>T ENSP00000495123.1:n.*192C>T
ENST00000646930.1:c.*1448C>T ENSP00000495219.1:n.*1448C>T
ENST00000646958.1:n.2564C>T
ENST00000647032.1:c.1134C>T
ENST00000647079.1:c.1111C>T ENSP00000495967.1:p.Gln371Ter
ENST00000647123.1:n.1476C>T
ENST00000647227.1:c.1157C>T
ENST00000647302.1:n.2169C>T
ENST00000647491.1:n.1263C>T
XM_006721264.2:c.1519C>T XP_006721327.1:p.Gln507Ter
XM_006721264.4:c.1519C>T XP_006721327.1:p.Gln507Ter
XM_017023597.1:c.1519C>T XP_016879086.1:p.Gln507Ter
XM_017023598.1:c.1519C>T XP_016879087.1:p.Gln507Ter
XR_001751971.2:n.1868C>T
XR_001751972.2:n.1868C>T