Canonical Allele Identifier: CA397433743
Community Standard Title: NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553824G>C , CM000678.2:g.89553824G>C GRCh38
NC_000016.9:g.89620232G>C , CM000678.1:g.89620232G>C GRCh37
NC_000016.8:g.88147733G>C NCBI36
NG_008082.1:g.50428G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1967G>C MANE Select NP_003110.1:p.Arg656Pro
ENST00000645818.2:c.1967G>C MANE Select ENSP00000495795.2:p.Arg656Pro
NM_001363850.1:c.1967G>C NP_001350779.1:p.Arg656Pro
NM_003119.3:c.1967G>C NP_003110.1:p.Arg656Pro
ENST00000268704.6:c.1967G>C ENSP00000268704.2:p.Arg656Pro
ENST00000268704.7:c.1946G>C ENSP00000268704.3:p.Arg649Pro
ENST00000561702.5:n.952G>C
ENST00000561702.6:n.2639G>C
ENST00000561911.5:c.567G>C ENSP00000457387.1:p.Pro189=
ENST00000566682.1:c.103G>C
ENST00000566682.2:c.1008G>C ENSP00000461979.2:p.Pro336=
ENST00000569720.1:n.158G>C
ENST00000569720.2:n.650G>C
ENST00000569820.5:c.1209G>C
ENST00000569820.6:c.2240G>C
ENST00000620811.4:c.*13G>C ENSP00000478030.1:n.*13G>C
ENST00000642226.1:n.2030G>C
ENST00000642334.1:c.3385G>C
ENST00000642814.1:n.1382G>C
ENST00000642984.1:n.1690G>C
ENST00000643105.1:c.2673G>C
ENST00000643350.1:n.1381G>C
ENST00000643409.1:n.2392G>C
ENST00000643496.1:n.1784G>C
ENST00000643649.1:c.1856G>C ENSP00000494806.1:p.Arg619Pro
ENST00000643668.1:c.*2261G>C ENSP00000494903.1:n.*2261G>C
ENST00000643724.1:c.*1015G>C ENSP00000496335.1:n.*1015G>C
ENST00000643954.1:c.2866G>C
ENST00000644171.1:n.2727G>C
ENST00000644210.1:c.*539G>C ENSP00000495675.1:n.*539G>C
ENST00000644225.1:n.1984G>C
ENST00000644281.1:n.2651G>C
ENST00000644464.1:n.620G>C
ENST00000644498.1:c.*1786G>C ENSP00000496244.1:n.*1786G>C
ENST00000644671.1:c.1624G>C
ENST00000644751.1:c.1155G>C
ENST00000644781.1:c.1922G>C ENSP00000495473.1:p.Arg641Pro
ENST00000644901.1:c.*2361G>C ENSP00000493797.1:n.*2361G>C
ENST00000645042.1:c.*741G>C ENSP00000493908.1:n.*741G>C
ENST00000645063.1:c.1967G>C ENSP00000493590.1:p.Arg656Pro
ENST00000645354.1:c.2727G>C
ENST00000645392.1:n.2308G>C
ENST00000645742.1:n.601G>C
ENST00000645842.1:n.1812G>C
ENST00000645886.1:c.1472G>C
ENST00000645897.1:c.1505G>C ENSP00000495293.1:p.Arg502Pro
ENST00000645952.1:n.1832G>C
ENST00000645977.1:n.3085G>C
ENST00000646005.1:n.1725G>C
ENST00000646263.1:c.*840G>C ENSP00000494119.1:n.*840G>C
ENST00000646303.1:c.1835G>C ENSP00000494160.1:p.Arg612Pro
ENST00000646399.1:c.2861G>C
ENST00000646445.1:c.825G>C
ENST00000646531.1:c.*590G>C ENSP00000495185.1:n.*590G>C
ENST00000646589.1:c.*1095G>C ENSP00000494739.1:n.*1095G>C
ENST00000646716.1:c.1019G>C ENSP00000495593.1:p.Arg340Pro
ENST00000646826.1:c.*640G>C ENSP00000495123.1:n.*640G>C
ENST00000646930.1:c.*1896G>C ENSP00000495219.1:n.*1896G>C
ENST00000647032.1:c.1582G>C
ENST00000647079.1:c.1559G>C ENSP00000495967.1:p.Arg520Pro
ENST00000647123.1:n.1924G>C
ENST00000647227.1:c.1605G>C
ENST00000647302.1:n.2617G>C
ENST00000647476.1:n.854G>C
ENST00000647491.1:n.1711G>C
XM_006721264.2:c.1967G>C XP_006721327.1:p.Arg656Pro
XM_006721264.4:c.1967G>C XP_006721327.1:p.Arg656Pro
XR_001751971.2:n.2316G>C
XR_001751972.2:n.3603G>C