Canonical Allele Identifier: CA397416830

Gene: SPG7

Linked Data

• MyVariant Identifiers: chr16:g.89576948G>C (hg19) ; chr16:g.89510540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89510540G>C , CM000678.2:g.89510540G>C	GRCh38
NC_000016.9:g.89576948G>C , CM000678.1:g.89576948G>C	GRCh37
NC_000016.8:g.88104449G>C	NCBI36
NG_008082.1:g.7144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.234G>C	ENSP00000268704.3:p.Leu78Phe
ENST00000562775.2:n.98G>C
ENST00000564047.2:n.243G>C
ENST00000564409.2:c.3G>C	ENSP00000495297.1:p.Leu1Phe
ENST00000566371.6:c.234G>C	ENSP00000454475.2:p.Leu78Phe
ENST00000569363.2:n.249G>C
ENST00000642334.1:c.107G>C
ENST00000642371.1:c.166G>C
ENST00000642436.1:n.246G>C
ENST00000643105.1:c.154G>C
ENST00000643307.1:c.234G>C	ENSP00000495673.1:p.Leu78Phe
ENST00000643345.1:c.234G>C	ENSP00000493982.1:p.Leu78Phe
ENST00000643649.1:c.234G>C	ENSP00000494806.1:p.Leu78Phe
ENST00000643668.1:c.234G>C	ENSP00000494903.1:p.Leu78Phe
ENST00000643724.1:c.234G>C	ENSP00000496335.1:p.Leu78Phe
ENST00000643957.1:c.117G>C	ENSP00000494246.1:p.Leu39Phe
ENST00000644210.1:c.234G>C	ENSP00000495675.1:p.Leu78Phe
ENST00000644225.1:n.251G>C
ENST00000644498.1:c.234G>C	ENSP00000496244.1:p.Leu78Phe
ENST00000644781.1:c.234G>C	ENSP00000495473.1:p.Leu78Phe
ENST00000644901.1:c.234G>C	ENSP00000493797.1:p.Leu78Phe
ENST00000645042.1:c.234G>C	ENSP00000493908.1:p.Leu78Phe
ENST00000645063.1:c.234G>C	ENSP00000493590.1:p.Leu78Phe
ENST00000645354.1:c.149G>C
ENST00000645533.1:c.234G>C	ENSP00000495690.1:p.Leu78Phe
ENST00000645818.2:c.234G>C MANE Select	ENSP00000495795.2:p.Leu78Phe
ENST00000645897.1:c.234G>C	ENSP00000495293.1:p.Leu78Phe
ENST00000645977.1:n.249G>C
ENST00000646263.1:c.234G>C	ENSP00000494119.1:p.Leu78Phe
ENST00000646303.1:c.102G>C	ENSP00000494160.1:p.Leu34Phe
ENST00000646445.1:c.40G>C
ENST00000646531.1:c.234G>C	ENSP00000495185.1:p.Leu78Phe
ENST00000646589.1:c.234G>C	ENSP00000494739.1:p.Leu78Phe
ENST00000646716.1:c.234G>C	ENSP00000495593.1:p.Leu78Phe
ENST00000646826.1:c.234G>C	ENSP00000495123.1:p.Leu78Phe
ENST00000646930.1:c.234G>C	ENSP00000495219.1:p.Leu78Phe
ENST00000646958.1:n.184G>C
ENST00000647079.1:c.-175G>C	ENSP00000495967.1:n.-175G>C
ENST00000647227.1:c.49+1940G>C
ENST00000268704.6:c.234G>C	ENSP00000268704.2:p.Leu78Phe
ENST00000341316.6:c.234G>C	ENSP00000341157.2:p.Leu78Phe
ENST00000563783.5:n.521G>C
ENST00000566371.5:c.102G>C	ENSP00000454475.1:p.Leu34Phe
ENST00000568151.1:c.330G>C	ENSP00000457719.1:p.Leu110Phe
ENST00000569363.1:n.75G>C
ENST00000620811.4:c.-1343G>C	ENSP00000478030.1:n.-1343G>C
NM_003119.3:c.234G>C	NP_003110.1:p.Leu78Phe
NM_199367.2:c.234G>C	NP_955399.1:p.Leu78Phe
XM_005256321.3:c.234G>C	XP_005256378.1:p.Leu78Phe
XM_006721264.2:c.234G>C	XP_006721327.1:p.Leu78Phe
XM_011523306.1:c.234G>C	XP_011521608.1:p.Leu78Phe
XM_011523307.1:c.234G>C	XP_011521609.1:p.Leu78Phe
NM_001363850.1:c.234G>C	NP_001350779.1:p.Leu78Phe
XM_005256321.4:c.234G>C	XP_005256378.1:p.Leu78Phe
XM_006721264.4:c.234G>C	XP_006721327.1:p.Leu78Phe
XM_017023597.1:c.234G>C	XP_016879086.1:p.Leu78Phe
XM_017023598.1:c.234G>C	XP_016879087.1:p.Leu78Phe
XR_001751971.2:n.273G>C
XR_001751972.2:n.273G>C
NM_003119.4:c.234G>C MANE Select	NP_003110.1:p.Leu78Phe
NM_199367.3:c.234G>C	NP_955399.1:p.Leu78Phe