Canonical Allele Identifier: CA8243722

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89526322C>A , CM000678.2:g.89526322C>A	GRCh38
NC_000016.9:g.89592730C>A , CM000678.1:g.89592730C>A	GRCh37
NC_000016.8:g.88120231C>A	NCBI36
NG_008082.1:g.22926C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003119.4:c.619-7C>A MANE Select	NP_003110.1:n.619-7C>A
ENST00000645818.2:c.619-7C>A MANE Select	ENSP00000495795.2:n.619-7C>A
NM_001363850.1:c.619-7C>A	NP_001350779.1:n.619-7C>A
NM_003119.3:c.619-7C>A	NP_003110.1:n.619-7C>A
NM_199367.2:c.619-7C>A	NP_955399.1:n.619-7C>A
NM_199367.3:c.619-7C>A	NP_955399.1:n.619-7C>A
ENST00000268704.6:c.619-7C>A	ENSP00000268704.2:n.619-7C>A
ENST00000268704.7:c.619-7C>A	ENSP00000268704.3:n.619-7C>A
ENST00000341316.6:c.619-7C>A	ENSP00000341157.2:n.619-7C>A
ENST00000562775.1:n.1529-7C>A
ENST00000562775.2:n.483-7C>A
ENST00000564047.1:n.45-7C>A
ENST00000564047.2:n.628-7C>A
ENST00000564409.2:c.388-7C>A	ENSP00000495297.1:n.388-7C>A
ENST00000566371.6:c.618+2075C>A	ENSP00000454475.2:n.618+2075C>A
ENST00000620811.4:c.-958-7C>A	ENSP00000478030.1:n.-958-7C>A
ENST00000642334.1:c.492-7C>A
ENST00000642371.1:c.550+2075C>A
ENST00000642427.1:n.19-7C>A
ENST00000642436.1:n.388+13285C>A
ENST00000643105.1:c.539-7C>A
ENST00000643178.1:n.267-7C>A
ENST00000643307.1:c.619-7C>A	ENSP00000495673.1:n.619-7C>A
ENST00000643345.1:c.377-2813C>A	ENSP00000493982.1:n.377-2813C>A
ENST00000643496.1:n.436-7C>A
ENST00000643649.1:c.619-7C>A	ENSP00000494806.1:n.619-7C>A
ENST00000643668.1:c.*647-7C>A	ENSP00000494903.1:n.*647-7C>A
ENST00000643724.1:c.619-7C>A	ENSP00000496335.1:n.619-7C>A
ENST00000643954.1:c.357-7C>A
ENST00000643957.1:c.780-7C>A	ENSP00000494246.1:n.780-7C>A
ENST00000644210.1:c.619-7C>A	ENSP00000495675.1:n.619-7C>A
ENST00000644225.1:n.636-7C>A
ENST00000644498.1:c.619-7C>A	ENSP00000496244.1:n.619-7C>A
ENST00000644671.1:c.282-7C>A
ENST00000644748.1:n.2050-7C>A
ENST00000644751.1:c.21-7C>A
ENST00000644781.1:c.619-7C>A	ENSP00000495473.1:n.619-7C>A
ENST00000644901.1:c.619-7C>A	ENSP00000493797.1:n.619-7C>A
ENST00000645042.1:c.619-7C>A	ENSP00000493908.1:n.619-7C>A
ENST00000645063.1:c.619-7C>A	ENSP00000493590.1:n.619-7C>A
ENST00000645354.1:c.534-7C>A
ENST00000645533.1:c.619-7C>A	ENSP00000495690.1:n.619-7C>A
ENST00000645897.1:c.619-7C>A	ENSP00000495293.1:n.619-7C>A
ENST00000645977.1:n.634-7C>A
ENST00000646263.1:c.619-7C>A	ENSP00000494119.1:n.619-7C>A
ENST00000646303.1:c.487-7C>A	ENSP00000494160.1:n.487-7C>A
ENST00000646399.1:c.302-7C>A
ENST00000646445.1:c.182+13285C>A
ENST00000646531.1:c.619-7C>A	ENSP00000495185.1:n.619-7C>A
ENST00000646589.1:c.377-4361C>A	ENSP00000494739.1:n.377-4361C>A
ENST00000646716.1:c.376+13285C>A	ENSP00000495593.1:n.376+13285C>A
ENST00000646826.1:c.619-7C>A	ENSP00000495123.1:n.619-7C>A
ENST00000646930.1:c.619-7C>A	ENSP00000495219.1:n.619-7C>A
ENST00000646958.1:n.569-7C>A
ENST00000647032.1:c.234-7C>A
ENST00000647079.1:c.211-7C>A	ENSP00000495967.1:n.211-7C>A
ENST00000647227.1:c.382-7C>A
XM_005256321.3:c.619-7C>A	XP_005256378.1:n.619-7C>A
XM_005256321.4:c.619-7C>A	XP_005256378.1:n.619-7C>A
XM_006721264.2:c.619-7C>A	XP_006721327.1:n.619-7C>A
XM_006721264.4:c.619-7C>A	XP_006721327.1:n.619-7C>A
XM_011523306.1:c.619-7C>A	XP_011521608.1:n.619-7C>A
XM_011523307.1:c.619-7C>A	XP_011521609.1:n.619-7C>A
XM_017023597.1:c.619-7C>A	XP_016879086.1:n.619-7C>A
XM_017023598.1:c.619-7C>A	XP_016879087.1:n.619-7C>A
XR_001751971.2:n.658-7C>A
XR_001751972.2:n.658-7C>A