Canonical Allele Identifier: CA16615322

Gene: SPG7

Linked Data

• ClinVar Variation Id: 411681
• ClinVar RCV Id: RCV000461245
• dbSNP Id: rs1060503429
• MyVariant Identifiers: chr16:g.89597161T>A (hg19) ; chr16:g.89530753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89530753T>A , CM000678.2:g.89530753T>A	GRCh38
NC_000016.9:g.89597161T>A , CM000678.1:g.89597161T>A	GRCh37
NC_000016.8:g.88124662T>A	NCBI36
NG_008082.1:g.27357T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.932T>A	ENSP00000268704.3:p.Val311Glu
ENST00000561945.2:n.77T>A
ENST00000564047.2:n.2044T>A
ENST00000564409.2:c.988T>A	ENSP00000495297.1:n.988T>A
ENST00000566371.6:c.689T>A	ENSP00000454475.2:p.Val230Glu
ENST00000642334.1:c.805T>A
ENST00000642371.1:c.1011T>A
ENST00000642427.1:n.332T>A
ENST00000642436.1:n.389-10191T>A
ENST00000643105.1:c.852T>A
ENST00000643178.1:n.477T>A
ENST00000643307.1:c.932T>A	ENSP00000495673.1:p.Val311Glu
ENST00000643345.1:c.*456T>A	ENSP00000493982.1:n.*456T>A
ENST00000643370.1:c.269T>A	ENSP00000494895.1:p.Val90Glu
ENST00000643496.1:n.749T>A
ENST00000643649.1:c.932T>A	ENSP00000494806.1:p.Val311Glu
ENST00000643668.1:c.*1226T>A	ENSP00000494903.1:n.*1226T>A
ENST00000643724.1:c.*442T>A	ENSP00000496335.1:n.*442T>A
ENST00000643954.1:c.670T>A
ENST00000644210.1:c.932T>A	ENSP00000495675.1:p.Val311Glu
ENST00000644225.1:n.949T>A
ENST00000644498.1:c.932T>A	ENSP00000496244.1:p.Val311Glu
ENST00000644671.1:c.589T>A
ENST00000644748.1:n.2363T>A
ENST00000644751.1:c.334T>A
ENST00000644781.1:c.932T>A	ENSP00000495473.1:p.Val311Glu
ENST00000644901.1:c.*885T>A	ENSP00000493797.1:n.*885T>A
ENST00000645042.1:c.932T>A	ENSP00000493908.1:p.Val311Glu
ENST00000645063.1:c.932T>A	ENSP00000493590.1:p.Val311Glu
ENST00000645354.1:c.1692T>A
ENST00000645533.1:c.932T>A	ENSP00000495690.1:p.Val311Glu
ENST00000645818.2:c.932T>A MANE Select	ENSP00000495795.2:p.Val311Glu
ENST00000645886.1:c.159T>A
ENST00000645897.1:c.932T>A	ENSP00000495293.1:p.Val311Glu
ENST00000645977.1:n.2050T>A
ENST00000646263.1:c.932T>A	ENSP00000494119.1:p.Val311Glu
ENST00000646303.1:c.800T>A	ENSP00000494160.1:p.Val267Glu
ENST00000646399.1:c.615T>A
ENST00000646445.1:c.183-13895T>A
ENST00000646454.1:n.506T>A
ENST00000646531.1:c.932T>A	ENSP00000495185.1:p.Val311Glu
ENST00000646589.1:c.*60T>A	ENSP00000494739.1:n.*60T>A
ENST00000646716.1:c.377-13895T>A	ENSP00000495593.1:n.377-13895T>A
ENST00000646826.1:c.932T>A	ENSP00000495123.1:p.Val311Glu
ENST00000646930.1:c.932T>A	ENSP00000495219.1:p.Val311Glu
ENST00000646958.1:n.882T>A
ENST00000647032.1:c.547T>A
ENST00000647079.1:c.524T>A	ENSP00000495967.1:p.Val175Glu
ENST00000647227.1:c.695T>A
ENST00000268704.6:c.932T>A	ENSP00000268704.2:p.Val311Glu
ENST00000341316.6:c.932T>A	ENSP00000341157.2:p.Val311Glu
ENST00000564409.1:n.391T>A
ENST00000620811.4:c.-645T>A	ENSP00000478030.1:n.-645T>A
NM_003119.3:c.932T>A	NP_003110.1:p.Val311Glu
NM_199367.2:c.932T>A	NP_955399.1:p.Val311Glu
XM_005256321.3:c.932T>A	XP_005256378.1:p.Val311Glu
XM_006721264.2:c.932T>A	XP_006721327.1:p.Val311Glu
XM_011523306.1:c.932T>A	XP_011521608.1:p.Val311Glu
XM_011523307.1:c.932T>A	XP_011521609.1:p.Val311Glu
NM_001363850.1:c.932T>A	NP_001350779.1:p.Val311Glu
XM_005256321.4:c.932T>A	XP_005256378.1:p.Val311Glu
XM_006721264.4:c.932T>A	XP_006721327.1:p.Val311Glu
XM_017023597.1:c.932T>A	XP_016879086.1:p.Val311Glu
XM_017023598.1:c.932T>A	XP_016879087.1:p.Val311Glu
XR_001751971.2:n.971T>A
XR_001751972.2:n.971T>A
NM_003119.4:c.932T>A MANE Select	NP_003110.1:p.Val311Glu
NM_199367.3:c.932T>A	NP_955399.1:p.Val311Glu