Canonical Allele Identifier: CA397430845
Community Standard Title: NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89550532C>T , CM000678.2:g.89550532C>T GRCh38
NC_000016.9:g.89616940C>T , CM000678.1:g.89616940C>T GRCh37
NC_000016.8:g.88144441C>T NCBI36
NG_008082.1:g.47136C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1702C>T MANE Select NP_003110.1:p.Gln568Ter
ENST00000645818.2:c.1702C>T MANE Select ENSP00000495795.2:p.Gln568Ter
NM_001363850.1:c.1702C>T NP_001350779.1:p.Gln568Ter
NM_003119.3:c.1702C>T NP_003110.1:p.Gln568Ter
ENST00000268704.6:c.1702C>T ENSP00000268704.2:p.Gln568Ter
ENST00000268704.7:c.1681C>T ENSP00000268704.3:p.Gln561Ter
ENST00000561702.5:n.687C>T
ENST00000561702.6:n.2374C>T
ENST00000561911.5:c.247C>T ENSP00000457387.1:p.Gln83Ter
ENST00000565370.1:n.487C>T
ENST00000566221.5:c.556C>T
ENST00000566682.2:c.715C>T ENSP00000461979.2:p.Gln239Ter
ENST00000569820.5:c.944C>T
ENST00000569820.6:c.1975C>T
ENST00000620811.4:c.477C>T ENSP00000478030.1:p.Asn159=
ENST00000642226.1:n.1765C>T
ENST00000642334.1:c.3120C>T
ENST00000642814.1:n.1117C>T
ENST00000642984.1:n.1298C>T
ENST00000643105.1:c.2408C>T
ENST00000643350.1:n.1116C>T
ENST00000643409.1:n.2127C>T
ENST00000643496.1:n.1519C>T
ENST00000643649.1:c.1591C>T ENSP00000494806.1:p.Gln531Ter
ENST00000643668.1:c.*1996C>T ENSP00000494903.1:n.*1996C>T
ENST00000643724.1:c.*750C>T ENSP00000496335.1:n.*750C>T
ENST00000643954.1:c.2601C>T
ENST00000644171.1:n.2462C>T
ENST00000644210.1:c.*274C>T ENSP00000495675.1:n.*274C>T
ENST00000644225.1:n.1719C>T
ENST00000644464.1:n.355C>T
ENST00000644498.1:c.*1521C>T ENSP00000496244.1:n.*1521C>T
ENST00000644671.1:c.1359C>T
ENST00000644751.1:c.890C>T
ENST00000644781.1:c.1702C>T ENSP00000495473.1:p.Gln568Ter
ENST00000644901.1:c.*2096C>T ENSP00000493797.1:n.*2096C>T
ENST00000645042.1:c.*476C>T ENSP00000493908.1:n.*476C>T
ENST00000645063.1:c.1702C>T ENSP00000493590.1:p.Gln568Ter
ENST00000645354.1:c.2462C>T
ENST00000645392.1:n.2043C>T
ENST00000645742.1:n.336C>T
ENST00000645842.1:n.1547C>T
ENST00000645886.1:c.1207C>T
ENST00000645897.1:c.1240C>T ENSP00000495293.1:p.Gln414Ter
ENST00000645952.1:n.1567C>T
ENST00000645977.1:n.2820C>T
ENST00000646005.1:n.1460C>T
ENST00000646263.1:c.*575C>T ENSP00000494119.1:n.*575C>T
ENST00000646303.1:c.1570C>T ENSP00000494160.1:p.Gln524Ter
ENST00000646399.1:c.2596C>T
ENST00000646445.1:c.560C>T
ENST00000646531.1:c.*325C>T ENSP00000495185.1:n.*325C>T
ENST00000646589.1:c.*830C>T ENSP00000494739.1:n.*830C>T
ENST00000646716.1:c.754C>T ENSP00000495593.1:p.Gln252Ter
ENST00000646826.1:c.*375C>T ENSP00000495123.1:n.*375C>T
ENST00000646930.1:c.*1631C>T ENSP00000495219.1:n.*1631C>T
ENST00000647032.1:c.1317C>T
ENST00000647079.1:c.1294C>T ENSP00000495967.1:p.Gln432Ter
ENST00000647123.1:n.1659C>T
ENST00000647227.1:c.1340C>T
ENST00000647302.1:n.2352C>T
ENST00000647476.1:n.589C>T
ENST00000647491.1:n.1446C>T
XM_006721264.2:c.1702C>T XP_006721327.1:p.Gln568Ter
XM_006721264.4:c.1702C>T XP_006721327.1:p.Gln568Ter
XR_001751971.2:n.2051C>T
XR_001751972.2:n.3338C>T