Canonical Allele Identifier: CA397434587

Gene: SPG7

Linked Data

• MyVariant Identifiers: chr16:g.89620896A>C (hg19) ; chr16:g.89554488A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554488A>C , CM000678.2:g.89554488A>C	GRCh38
NC_000016.9:g.89620896A>C , CM000678.1:g.89620896A>C	GRCh37
NC_000016.8:g.88148397A>C	NCBI36
NG_008082.1:g.51092A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2085A>C	ENSP00000268704.3:p.Glu695Asp
ENST00000561702.6:n.2778A>C
ENST00000565891.2:c.3A>C	ENSP00000495004.1:p.Glu1Asp
ENST00000566682.2:c.1147A>C	ENSP00000461979.2:n.1147A>C
ENST00000569720.2:n.789A>C
ENST00000569820.6:c.2379A>C
ENST00000642226.1:n.2169A>C
ENST00000642334.1:c.3524A>C
ENST00000642814.1:n.1521A>C
ENST00000642984.1:n.1829A>C
ENST00000643105.1:c.2812A>C
ENST00000643350.1:n.1520A>C
ENST00000643409.1:n.2531A>C
ENST00000643496.1:n.1923A>C
ENST00000643649.1:c.1995A>C	ENSP00000494806.1:p.Glu665Asp
ENST00000643668.1:c.*2400A>C	ENSP00000494903.1:n.*2400A>C
ENST00000643724.1:c.*1154A>C	ENSP00000496335.1:n.*1154A>C
ENST00000643954.1:c.3005A>C
ENST00000644171.1:n.2866A>C
ENST00000644210.1:c.*678A>C	ENSP00000495675.1:n.*678A>C
ENST00000644225.1:n.2123A>C
ENST00000644281.1:n.2790A>C
ENST00000644464.1:n.759A>C
ENST00000644498.1:c.*1925A>C	ENSP00000496244.1:n.*1925A>C
ENST00000644671.1:c.1763A>C
ENST00000644751.1:c.1294A>C
ENST00000644781.1:c.2061A>C	ENSP00000495473.1:p.Glu687Asp
ENST00000644901.1:c.*2500A>C	ENSP00000493797.1:n.*2500A>C
ENST00000645042.1:c.*880A>C	ENSP00000493908.1:n.*880A>C
ENST00000645063.1:c.2106A>C	ENSP00000493590.1:p.Glu702Asp
ENST00000645354.1:c.2866A>C
ENST00000645392.1:n.2447A>C
ENST00000645742.1:n.740A>C
ENST00000645818.2:c.2106A>C MANE Select	ENSP00000495795.2:p.Glu702Asp
ENST00000645842.1:n.1951A>C
ENST00000645886.1:c.1611A>C
ENST00000645897.1:c.1644A>C	ENSP00000495293.1:p.Glu548Asp
ENST00000645952.1:n.1971A>C
ENST00000645977.1:n.3224A>C
ENST00000646005.1:n.1864A>C
ENST00000646263.1:c.*979A>C	ENSP00000494119.1:n.*979A>C
ENST00000646303.1:c.1974A>C	ENSP00000494160.1:p.Glu658Asp
ENST00000646399.1:c.3000A>C
ENST00000646445.1:c.964A>C
ENST00000646531.1:c.*729A>C	ENSP00000495185.1:n.*729A>C
ENST00000646589.1:c.*1234A>C	ENSP00000494739.1:n.*1234A>C
ENST00000646716.1:c.1158A>C	ENSP00000495593.1:p.Glu386Asp
ENST00000646826.1:c.*779A>C	ENSP00000495123.1:n.*779A>C
ENST00000646930.1:c.*2035A>C	ENSP00000495219.1:n.*2035A>C
ENST00000647032.1:c.1737A>C
ENST00000647079.1:c.1698A>C	ENSP00000495967.1:p.Glu566Asp
ENST00000647123.1:n.2063A>C
ENST00000647227.1:c.1744A>C
ENST00000647302.1:n.2756A>C
ENST00000647476.1:n.993A>C
ENST00000647491.1:n.1850A>C
ENST00000268704.6:c.2106A>C	ENSP00000268704.2:p.Glu702Asp
ENST00000561702.5:n.1091A>C
ENST00000561911.5:c.706A>C	ENSP00000457387.1:n.706A>C
ENST00000566682.1:c.242A>C
ENST00000569720.1:n.297A>C
ENST00000569820.5:c.1348A>C
ENST00000620811.4:c.*152A>C	ENSP00000478030.1:n.*152A>C
NM_003119.3:c.2106A>C	NP_003110.1:p.Glu702Asp
XM_006721264.2:c.2106A>C	XP_006721327.1:p.Glu702Asp
NM_001363850.1:c.2106A>C	NP_001350779.1:p.Glu702Asp
XM_006721264.4:c.2106A>C	XP_006721327.1:p.Glu702Asp
XR_001751971.2:n.2455A>C
XR_001751972.2:n.3742A>C
NM_003119.4:c.2106A>C MANE Select	NP_003110.1:p.Glu702Asp