Canonical Allele Identifier: CA397434581

Gene: SPG7

Linked Data

• MyVariant Identifiers: chr16:g.89620895A>C (hg19) ; chr16:g.89554487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554487A>C , CM000678.2:g.89554487A>C	GRCh38
NC_000016.9:g.89620895A>C , CM000678.1:g.89620895A>C	GRCh37
NC_000016.8:g.88148396A>C	NCBI36
NG_008082.1:g.51091A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2084A>C	ENSP00000268704.3:p.Glu695Ala
ENST00000561702.6:n.2777A>C
ENST00000565891.2:c.2A>C	ENSP00000495004.1:p.Glu1Ala
ENST00000566682.2:c.1146A>C	ENSP00000461979.2:n.1146A>C
ENST00000569720.2:n.788A>C
ENST00000569820.6:c.2378A>C
ENST00000642226.1:n.2168A>C
ENST00000642334.1:c.3523A>C
ENST00000642814.1:n.1520A>C
ENST00000642984.1:n.1828A>C
ENST00000643105.1:c.2811A>C
ENST00000643350.1:n.1519A>C
ENST00000643409.1:n.2530A>C
ENST00000643496.1:n.1922A>C
ENST00000643649.1:c.1994A>C	ENSP00000494806.1:p.Glu665Ala
ENST00000643668.1:c.*2399A>C	ENSP00000494903.1:n.*2399A>C
ENST00000643724.1:c.*1153A>C	ENSP00000496335.1:n.*1153A>C
ENST00000643954.1:c.3004A>C
ENST00000644171.1:n.2865A>C
ENST00000644210.1:c.*677A>C	ENSP00000495675.1:n.*677A>C
ENST00000644225.1:n.2122A>C
ENST00000644281.1:n.2789A>C
ENST00000644464.1:n.758A>C
ENST00000644498.1:c.*1924A>C	ENSP00000496244.1:n.*1924A>C
ENST00000644671.1:c.1762A>C
ENST00000644751.1:c.1293A>C
ENST00000644781.1:c.2060A>C	ENSP00000495473.1:p.Glu687Ala
ENST00000644901.1:c.*2499A>C	ENSP00000493797.1:n.*2499A>C
ENST00000645042.1:c.*879A>C	ENSP00000493908.1:n.*879A>C
ENST00000645063.1:c.2105A>C	ENSP00000493590.1:p.Glu702Ala
ENST00000645354.1:c.2865A>C
ENST00000645392.1:n.2446A>C
ENST00000645742.1:n.739A>C
ENST00000645818.2:c.2105A>C MANE Select	ENSP00000495795.2:p.Glu702Ala
ENST00000645842.1:n.1950A>C
ENST00000645886.1:c.1610A>C
ENST00000645897.1:c.1643A>C	ENSP00000495293.1:p.Glu548Ala
ENST00000645952.1:n.1970A>C
ENST00000645977.1:n.3223A>C
ENST00000646005.1:n.1863A>C
ENST00000646263.1:c.*978A>C	ENSP00000494119.1:n.*978A>C
ENST00000646303.1:c.1973A>C	ENSP00000494160.1:p.Glu658Ala
ENST00000646399.1:c.2999A>C
ENST00000646445.1:c.963A>C
ENST00000646531.1:c.*728A>C	ENSP00000495185.1:n.*728A>C
ENST00000646589.1:c.*1233A>C	ENSP00000494739.1:n.*1233A>C
ENST00000646716.1:c.1157A>C	ENSP00000495593.1:p.Glu386Ala
ENST00000646826.1:c.*778A>C	ENSP00000495123.1:n.*778A>C
ENST00000646930.1:c.*2034A>C	ENSP00000495219.1:n.*2034A>C
ENST00000647032.1:c.1736A>C
ENST00000647079.1:c.1697A>C	ENSP00000495967.1:p.Glu566Ala
ENST00000647123.1:n.2062A>C
ENST00000647227.1:c.1743A>C
ENST00000647302.1:n.2755A>C
ENST00000647476.1:n.992A>C
ENST00000647491.1:n.1849A>C
ENST00000268704.6:c.2105A>C	ENSP00000268704.2:p.Glu702Ala
ENST00000561702.5:n.1090A>C
ENST00000561911.5:c.705A>C	ENSP00000457387.1:n.705A>C
ENST00000566682.1:c.241A>C
ENST00000569720.1:n.296A>C
ENST00000569820.5:c.1347A>C
ENST00000620811.4:c.*151A>C	ENSP00000478030.1:n.*151A>C
NM_003119.3:c.2105A>C	NP_003110.1:p.Glu702Ala
XM_006721264.2:c.2105A>C	XP_006721327.1:p.Glu702Ala
NM_001363850.1:c.2105A>C	NP_001350779.1:p.Glu702Ala
XM_006721264.4:c.2105A>C	XP_006721327.1:p.Glu702Ala
XR_001751971.2:n.2454A>C
XR_001751972.2:n.3741A>C
NM_003119.4:c.2105A>C MANE Select	NP_003110.1:p.Glu702Ala