Canonical Allele Identifier: CA8243478

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89510556T>C , CM000678.2:g.89510556T>C	GRCh38
NC_000016.9:g.89576964T>C , CM000678.1:g.89576964T>C	GRCh37
NC_000016.8:g.88104465T>C	NCBI36
NG_008082.1:g.7160T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003119.4:c.250T>C MANE Select	NP_003110.1:p.Leu84=
ENST00000645818.2:c.250T>C MANE Select	ENSP00000495795.2:p.Leu84=
NM_001363850.1:c.250T>C	NP_001350779.1:p.Leu84=
NM_003119.3:c.250T>C	NP_003110.1:p.Leu84=
NM_199367.2:c.250T>C	NP_955399.1:p.Leu84=
NM_199367.3:c.250T>C	NP_955399.1:p.Leu84=
ENST00000268704.6:c.250T>C	ENSP00000268704.2:p.Leu84=
ENST00000268704.7:c.250T>C	ENSP00000268704.3:p.Leu84=
ENST00000341316.6:c.250T>C	ENSP00000341157.2:p.Leu84=
ENST00000562775.2:n.114T>C
ENST00000563783.5:n.537T>C
ENST00000564047.2:n.259T>C
ENST00000564409.2:c.19T>C	ENSP00000495297.1:p.Leu7=
ENST00000566371.5:c.118T>C	ENSP00000454475.1:p.Leu40=
ENST00000566371.6:c.250T>C	ENSP00000454475.2:p.Leu84=
ENST00000568151.1:c.346T>C	ENSP00000457719.1:p.Leu116=
ENST00000569363.1:n.91T>C
ENST00000569363.2:n.265T>C
ENST00000620811.4:c.-1327T>C	ENSP00000478030.1:n.-1327T>C
ENST00000642334.1:c.123T>C
ENST00000642371.1:c.182T>C
ENST00000642436.1:n.262T>C
ENST00000643105.1:c.170T>C
ENST00000643307.1:c.250T>C	ENSP00000495673.1:p.Leu84=
ENST00000643345.1:c.250T>C	ENSP00000493982.1:p.Leu84=
ENST00000643649.1:c.250T>C	ENSP00000494806.1:p.Leu84=
ENST00000643668.1:c.250T>C	ENSP00000494903.1:p.Leu84=
ENST00000643724.1:c.250T>C	ENSP00000496335.1:p.Leu84=
ENST00000643957.1:c.133T>C	ENSP00000494246.1:p.Leu45=
ENST00000644210.1:c.250T>C	ENSP00000495675.1:p.Leu84=
ENST00000644225.1:n.267T>C
ENST00000644498.1:c.250T>C	ENSP00000496244.1:p.Leu84=
ENST00000644781.1:c.250T>C	ENSP00000495473.1:p.Leu84=
ENST00000644901.1:c.250T>C	ENSP00000493797.1:p.Leu84=
ENST00000645042.1:c.250T>C	ENSP00000493908.1:p.Leu84=
ENST00000645063.1:c.250T>C	ENSP00000493590.1:p.Leu84=
ENST00000645354.1:c.165T>C
ENST00000645533.1:c.250T>C	ENSP00000495690.1:p.Leu84=
ENST00000645897.1:c.250T>C	ENSP00000495293.1:p.Leu84=
ENST00000645977.1:n.265T>C
ENST00000646263.1:c.250T>C	ENSP00000494119.1:p.Leu84=
ENST00000646303.1:c.118T>C	ENSP00000494160.1:p.Leu40=
ENST00000646445.1:c.56T>C
ENST00000646531.1:c.250T>C	ENSP00000495185.1:p.Leu84=
ENST00000646589.1:c.250T>C	ENSP00000494739.1:p.Leu84=
ENST00000646716.1:c.250T>C	ENSP00000495593.1:p.Leu84=
ENST00000646826.1:c.250T>C	ENSP00000495123.1:p.Leu84=
ENST00000646930.1:c.250T>C	ENSP00000495219.1:p.Leu84=
ENST00000646958.1:n.200T>C
ENST00000647079.1:c.-159T>C	ENSP00000495967.1:n.-159T>C
ENST00000647227.1:c.49+1956T>C
XM_005256321.3:c.250T>C	XP_005256378.1:p.Leu84=
XM_005256321.4:c.250T>C	XP_005256378.1:p.Leu84=
XM_006721264.2:c.250T>C	XP_006721327.1:p.Leu84=
XM_006721264.4:c.250T>C	XP_006721327.1:p.Leu84=
XM_011523306.1:c.250T>C	XP_011521608.1:p.Leu84=
XM_011523307.1:c.250T>C	XP_011521609.1:p.Leu84=
XM_017023597.1:c.250T>C	XP_016879086.1:p.Leu84=
XM_017023598.1:c.250T>C	XP_016879087.1:p.Leu84=
XR_001751971.2:n.289T>C
XR_001751972.2:n.289T>C