Canonical Allele Identifier: CA8244642
Community Standard Title: NM_003119.4(SPG7):c.2274C>T (p.Ile758=)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89556979C>T , CM000678.2:g.89556979C>T GRCh38
NC_000016.9:g.89623387C>T , CM000678.1:g.89623387C>T GRCh37
NC_000016.8:g.88150888C>T NCBI36
NG_008082.1:g.53583C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2274C>T MANE Select NP_003110.1:p.Ile758=
ENST00000645818.2:c.2274C>T MANE Select ENSP00000495795.2:p.Ile758=
NM_001363850.1:c.*52C>T NP_001350779.1:n.*52C>T
NM_003119.3:c.2274C>T NP_003110.1:p.Ile758=
ENST00000268704.6:c.2274C>T ENSP00000268704.2:p.Ile758=
ENST00000268704.7:c.2253C>T ENSP00000268704.3:p.Ile751=
ENST00000561702.5:n.1259C>T
ENST00000561702.6:n.2946C>T
ENST00000561911.5:c.874C>T ENSP00000457387.1:n.874C>T
ENST00000565891.1:n.315C>T
ENST00000565891.2:c.298C>T ENSP00000495004.1:n.298C>T
ENST00000569720.1:n.465C>T
ENST00000569720.2:n.957C>T
ENST00000569820.5:c.1516C>T
ENST00000569820.6:c.2547C>T
ENST00000620811.4:c.*320C>T ENSP00000478030.1:n.*320C>T
ENST00000642226.1:n.2337C>T
ENST00000642334.1:c.3692C>T
ENST00000642814.1:n.1689C>T
ENST00000642984.1:n.1997C>T
ENST00000643105.1:c.2980C>T
ENST00000643350.1:n.1688C>T
ENST00000643409.1:n.2699C>T
ENST00000643496.1:n.2091C>T
ENST00000643649.1:c.2163C>T ENSP00000494806.1:p.Ile721=
ENST00000643668.1:c.*2568C>T ENSP00000494903.1:n.*2568C>T
ENST00000643724.1:c.*1322C>T ENSP00000496335.1:n.*1322C>T
ENST00000643954.1:c.3173C>T
ENST00000644171.1:n.3034C>T
ENST00000644210.1:c.*846C>T ENSP00000495675.1:n.*846C>T
ENST00000644225.1:n.3813C>T
ENST00000644281.1:n.2958C>T
ENST00000644464.1:n.2449C>T
ENST00000644498.1:c.*2093C>T ENSP00000496244.1:n.*2093C>T
ENST00000644671.1:c.1931C>T
ENST00000644751.1:c.1462C>T
ENST00000644781.1:c.2229C>T ENSP00000495473.1:p.Ile743=
ENST00000644901.1:c.*2668C>T ENSP00000493797.1:n.*2668C>T
ENST00000645042.1:c.*1048C>T ENSP00000493908.1:n.*1048C>T
ENST00000645063.1:c.*52C>T ENSP00000493590.1:n.*52C>T
ENST00000645392.1:n.2615C>T
ENST00000645742.1:n.908C>T
ENST00000645842.1:n.2119C>T
ENST00000645886.1:c.1779C>T
ENST00000645897.1:c.1812C>T ENSP00000495293.1:p.Ile604=
ENST00000645952.1:n.2304C>T
ENST00000645977.1:n.3392C>T
ENST00000646005.1:n.2032C>T
ENST00000646263.1:c.*1147C>T ENSP00000494119.1:n.*1147C>T
ENST00000646303.1:c.2142C>T ENSP00000494160.1:p.Ile714=
ENST00000646399.1:c.3168C>T
ENST00000646445.1:c.1132C>T
ENST00000646531.1:c.*897C>T ENSP00000495185.1:n.*897C>T
ENST00000646589.1:c.*1402C>T ENSP00000494739.1:n.*1402C>T
ENST00000646716.1:c.*52C>T ENSP00000495593.1:n.*52C>T
ENST00000646826.1:c.*947C>T ENSP00000495123.1:n.*947C>T
ENST00000646930.1:c.*2203C>T ENSP00000495219.1:n.*2203C>T
ENST00000647032.1:c.1905C>T
ENST00000647079.1:c.1866C>T ENSP00000495967.1:p.Ile622=
ENST00000647123.1:n.2231C>T
ENST00000647227.1:c.1912C>T
ENST00000647302.1:n.2924C>T
ENST00000647476.1:n.3484C>T
ENST00000647491.1:n.2018C>T
XM_006721264.2:c.*52C>T XP_006721327.1:n.*52C>T
XM_006721264.4:c.*52C>T XP_006721327.1:n.*52C>T
XR_001751971.2:n.2623C>T
XR_001751972.2:n.3910C>T