Canonical Allele Identifier: CA2241762950
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553920G= , CM000678.2:g.89553920G= GRCh38
NC_000016.9:g.89620328G= , CM000678.1:g.89620328G= GRCh37
NC_000016.8:g.88147829G= NCBI36
NG_008082.1:g.50524G=

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2063G= MANE Select NP_003110.1:p.Arg688=
ENST00000645818.2:c.2063G= MANE Select ENSP00000495795.2:p.Arg688=
NM_001363850.1:c.2063G= NP_001350779.1:p.Arg688=
NM_003119.3:c.2063G= NP_003110.1:p.Arg688=
ENST00000268704.6:c.2063G= ENSP00000268704.2:p.Arg688=
ENST00000268704.7:c.2042G= ENSP00000268704.3:p.Arg681=
ENST00000561702.5:n.1048G=
ENST00000561702.6:n.2735G=
ENST00000561911.5:c.663G= ENSP00000457387.1:n.663G=
ENST00000566682.1:c.199G=
ENST00000566682.2:c.1104G= ENSP00000461979.2:n.1104G=
ENST00000569720.1:n.254G=
ENST00000569720.2:n.746G=
ENST00000569820.5:c.1305G=
ENST00000569820.6:c.2336G=
ENST00000620811.4:c.*109G= ENSP00000478030.1:n.*109G=
ENST00000642226.1:n.2126G=
ENST00000642334.1:c.3481G=
ENST00000642814.1:n.1478G=
ENST00000642984.1:n.1786G=
ENST00000643105.1:c.2769G=
ENST00000643350.1:n.1477G=
ENST00000643409.1:n.2488G=
ENST00000643496.1:n.1880G=
ENST00000643649.1:c.1952G= ENSP00000494806.1:p.Arg651=
ENST00000643668.1:c.*2357G= ENSP00000494903.1:n.*2357G=
ENST00000643724.1:c.*1111G= ENSP00000496335.1:n.*1111G=
ENST00000643954.1:c.2962G=
ENST00000644171.1:n.2823G=
ENST00000644210.1:c.*635G= ENSP00000495675.1:n.*635G=
ENST00000644225.1:n.2080G=
ENST00000644281.1:n.2747G=
ENST00000644464.1:n.716G=
ENST00000644498.1:c.*1882G= ENSP00000496244.1:n.*1882G=
ENST00000644671.1:c.1720G=
ENST00000644751.1:c.1251G=
ENST00000644781.1:c.2018G= ENSP00000495473.1:p.Arg673=
ENST00000644901.1:c.*2457G= ENSP00000493797.1:n.*2457G=
ENST00000645042.1:c.*837G= ENSP00000493908.1:n.*837G=
ENST00000645063.1:c.2063G= ENSP00000493590.1:p.Arg688=
ENST00000645354.1:c.2823G=
ENST00000645392.1:n.2404G=
ENST00000645742.1:n.697G=
ENST00000645842.1:n.1908G=
ENST00000645886.1:c.1568G=
ENST00000645897.1:c.1601G= ENSP00000495293.1:p.Arg534=
ENST00000645952.1:n.1928G=
ENST00000645977.1:n.3181G=
ENST00000646005.1:n.1821G=
ENST00000646263.1:c.*936G= ENSP00000494119.1:n.*936G=
ENST00000646303.1:c.1931G= ENSP00000494160.1:p.Arg644=
ENST00000646399.1:c.2957G=
ENST00000646445.1:c.921G=
ENST00000646531.1:c.*686G= ENSP00000495185.1:n.*686G=
ENST00000646589.1:c.*1191G= ENSP00000494739.1:n.*1191G=
ENST00000646716.1:c.1115G= ENSP00000495593.1:p.Arg372=
ENST00000646826.1:c.*736G= ENSP00000495123.1:n.*736G=
ENST00000646930.1:c.*1992G= ENSP00000495219.1:n.*1992G=
ENST00000647032.1:c.1678G=
ENST00000647079.1:c.1655G= ENSP00000495967.1:p.Arg552=
ENST00000647123.1:n.2020G=
ENST00000647227.1:c.1701G=
ENST00000647302.1:n.2713G=
ENST00000647476.1:n.950G=
ENST00000647491.1:n.1807G=
XM_006721264.2:c.2063G= XP_006721327.1:p.Arg688=
XM_006721264.4:c.2063G= XP_006721327.1:p.Arg688=
XR_001751971.2:n.2412G=
XR_001751972.2:n.3699G=