Canonical Allele Identifier: CA253969

Gene: SPG7

Linked Data

• ClinVar Variation Id: 6820
• ClinVar RCV Id: RCV000007222 ; RCV000996411
• dbSNP Id: rs267607085
• MyVariant Identifiers: chr16:g.89616987G>C (hg19) ; chr16:g.89550579G>C (hg38)
• PubMed: PMID:20186691

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89550579G>C , CM000678.2:g.89550579G>C	GRCh38
NC_000016.9:g.89616987G>C , CM000678.1:g.89616987G>C	GRCh37
NC_000016.8:g.88144488G>C	NCBI36
NG_008082.1:g.47183G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1728G>C	ENSP00000268704.3:p.Trp576Cys
ENST00000561702.6:n.2421G>C
ENST00000566682.2:c.762G>C	ENSP00000461979.2:p.Trp254Cys
ENST00000569820.6:c.2022G>C
ENST00000642226.1:n.1812G>C
ENST00000642334.1:c.3167G>C
ENST00000642814.1:n.1164G>C
ENST00000642984.1:n.1345G>C
ENST00000643105.1:c.2455G>C
ENST00000643350.1:n.1163G>C
ENST00000643409.1:n.2174G>C
ENST00000643496.1:n.1566G>C
ENST00000643649.1:c.1638G>C	ENSP00000494806.1:p.Trp546Cys
ENST00000643668.1:c.*2043G>C	ENSP00000494903.1:n.*2043G>C
ENST00000643724.1:c.*797G>C	ENSP00000496335.1:n.*797G>C
ENST00000643954.1:c.2648G>C
ENST00000644171.1:n.2509G>C
ENST00000644210.1:c.*321G>C	ENSP00000495675.1:n.*321G>C
ENST00000644225.1:n.1766G>C
ENST00000644464.1:n.402G>C
ENST00000644498.1:c.*1568G>C	ENSP00000496244.1:n.*1568G>C
ENST00000644671.1:c.1406G>C
ENST00000644751.1:c.937G>C
ENST00000644781.1:c.1749G>C	ENSP00000495473.1:p.Trp583Cys
ENST00000644901.1:c.*2143G>C	ENSP00000493797.1:n.*2143G>C
ENST00000645042.1:c.*523G>C	ENSP00000493908.1:n.*523G>C
ENST00000645063.1:c.1749G>C	ENSP00000493590.1:p.Trp583Cys
ENST00000645354.1:c.2509G>C
ENST00000645392.1:n.2090G>C
ENST00000645742.1:n.383G>C
ENST00000645818.2:c.1749G>C MANE Select	ENSP00000495795.2:p.Trp583Cys
ENST00000645842.1:n.1594G>C
ENST00000645886.1:c.1254G>C
ENST00000645897.1:c.1287G>C	ENSP00000495293.1:p.Trp429Cys
ENST00000645952.1:n.1614G>C
ENST00000645977.1:n.2867G>C
ENST00000646005.1:n.1507G>C
ENST00000646263.1:c.*622G>C	ENSP00000494119.1:n.*622G>C
ENST00000646303.1:c.1617G>C	ENSP00000494160.1:p.Trp539Cys
ENST00000646399.1:c.2643G>C
ENST00000646445.1:c.607G>C
ENST00000646531.1:c.*372G>C	ENSP00000495185.1:n.*372G>C
ENST00000646589.1:c.*877G>C	ENSP00000494739.1:n.*877G>C
ENST00000646716.1:c.801G>C	ENSP00000495593.1:p.Trp267Cys
ENST00000646826.1:c.*422G>C	ENSP00000495123.1:n.*422G>C
ENST00000646930.1:c.*1678G>C	ENSP00000495219.1:n.*1678G>C
ENST00000647032.1:c.1364G>C
ENST00000647079.1:c.1341G>C	ENSP00000495967.1:p.Trp447Cys
ENST00000647123.1:n.1706G>C
ENST00000647227.1:c.1387G>C
ENST00000647302.1:n.2399G>C
ENST00000647476.1:n.636G>C
ENST00000647491.1:n.1493G>C
ENST00000268704.6:c.1749G>C	ENSP00000268704.2:p.Trp583Cys
ENST00000561702.5:n.734G>C
ENST00000561911.5:c.294G>C	ENSP00000457387.1:p.Trp98Cys
ENST00000565370.1:n.534G>C
ENST00000566221.5:c.603G>C
ENST00000568205.1:n.44G>C
ENST00000569820.5:c.991G>C
ENST00000620811.4:c.524G>C	ENSP00000478030.1:p.Gly175Ala
NM_003119.3:c.1749G>C	NP_003110.1:p.Trp583Cys
XM_006721264.2:c.1749G>C	XP_006721327.1:p.Trp583Cys
NM_001363850.1:c.1749G>C	NP_001350779.1:p.Trp583Cys
XM_006721264.4:c.1749G>C	XP_006721327.1:p.Trp583Cys
XR_001751971.2:n.2098G>C
XR_001751972.2:n.3385G>C
NM_003119.4:c.1749G>C MANE Select	NP_003110.1:p.Trp583Cys