Canonical Allele Identifier: CA286541789

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89529585T>C , CM000678.2:g.89529585T>C	GRCh38
NC_000016.9:g.89595993T>C , CM000678.1:g.89595993T>C	GRCh37
NC_000016.8:g.88123494T>C	NCBI36
NG_008082.1:g.26189T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003119.4:c.861+6T>C MANE Select	NP_003110.1:n.861+6T>C
ENST00000645818.2:c.861+6T>C MANE Select	ENSP00000495795.2:n.861+6T>C
NM_001363850.1:c.861+6T>C	NP_001350779.1:n.861+6T>C
NM_003119.3:c.861+6T>C	NP_003110.1:n.861+6T>C
NM_199367.2:c.861+6T>C	NP_955399.1:n.861+6T>C
NM_199367.3:c.861+6T>C	NP_955399.1:n.861+6T>C
ENST00000268704.6:c.861+6T>C	ENSP00000268704.2:n.861+6T>C
ENST00000268704.7:c.861+6T>C	ENSP00000268704.3:n.861+6T>C
ENST00000341316.6:c.861+6T>C	ENSP00000341157.2:n.861+6T>C
ENST00000564047.1:n.293T>C
ENST00000564047.2:n.876T>C
ENST00000564409.1:n.320+61T>C
ENST00000564409.2:c.917+61T>C	ENSP00000495297.1:n.917+61T>C
ENST00000566371.6:c.619-1098T>C	ENSP00000454475.2:n.619-1098T>C
ENST00000620811.4:c.-716+6T>C	ENSP00000478030.1:n.-716+6T>C
ENST00000642334.1:c.734+6T>C
ENST00000642371.1:c.940+61T>C
ENST00000642427.1:n.261+6T>C
ENST00000642436.1:n.389-11359T>C
ENST00000643105.1:c.781+6T>C
ENST00000643178.1:n.407-1098T>C
ENST00000643307.1:c.861+6T>C	ENSP00000495673.1:n.861+6T>C
ENST00000643345.1:c.*385+61T>C	ENSP00000493982.1:n.*385+61T>C
ENST00000643370.1:c.198+6T>C	ENSP00000494895.1:n.198+6T>C
ENST00000643496.1:n.678+6T>C
ENST00000643649.1:c.861+6T>C	ENSP00000494806.1:n.861+6T>C
ENST00000643668.1:c.*1155+6T>C	ENSP00000494903.1:n.*1155+6T>C
ENST00000643724.1:c.*371+61T>C	ENSP00000496335.1:n.*371+61T>C
ENST00000643954.1:c.599+6T>C
ENST00000644210.1:c.861+6T>C	ENSP00000495675.1:n.861+6T>C
ENST00000644225.1:n.878+6T>C
ENST00000644498.1:c.861+6T>C	ENSP00000496244.1:n.861+6T>C
ENST00000644671.1:c.524+6T>C
ENST00000644748.1:n.2292+6T>C
ENST00000644751.1:c.263+6T>C
ENST00000644781.1:c.861+6T>C	ENSP00000495473.1:n.861+6T>C
ENST00000644901.1:c.*814+61T>C	ENSP00000493797.1:n.*814+61T>C
ENST00000645042.1:c.861+6T>C	ENSP00000493908.1:n.861+6T>C
ENST00000645063.1:c.861+6T>C	ENSP00000493590.1:n.861+6T>C
ENST00000645354.1:c.1621+6T>C
ENST00000645533.1:c.861+6T>C	ENSP00000495690.1:n.861+6T>C
ENST00000645886.1:c.88+6T>C
ENST00000645897.1:c.861+6T>C	ENSP00000495293.1:n.861+6T>C
ENST00000645977.1:n.882T>C
ENST00000646263.1:c.861+6T>C	ENSP00000494119.1:n.861+6T>C
ENST00000646303.1:c.729+6T>C	ENSP00000494160.1:n.729+6T>C
ENST00000646399.1:c.544+6T>C
ENST00000646445.1:c.183-15063T>C
ENST00000646531.1:c.861+6T>C	ENSP00000495185.1:n.861+6T>C
ENST00000646589.1:c.377-1098T>C	ENSP00000494739.1:n.377-1098T>C
ENST00000646716.1:c.377-15063T>C	ENSP00000495593.1:n.377-15063T>C
ENST00000646826.1:c.861+6T>C	ENSP00000495123.1:n.861+6T>C
ENST00000646930.1:c.861+6T>C	ENSP00000495219.1:n.861+6T>C
ENST00000646958.1:n.811+6T>C
ENST00000647032.1:c.476+6T>C
ENST00000647079.1:c.453+6T>C	ENSP00000495967.1:n.453+6T>C
ENST00000647227.1:c.624+6T>C
XM_005256321.3:c.861+6T>C	XP_005256378.1:n.861+6T>C
XM_005256321.4:c.861+6T>C	XP_005256378.1:n.861+6T>C
XM_006721264.2:c.861+6T>C	XP_006721327.1:n.861+6T>C
XM_006721264.4:c.861+6T>C	XP_006721327.1:n.861+6T>C
XM_011523306.1:c.861+6T>C	XP_011521608.1:n.861+6T>C
XM_011523307.1:c.861+6T>C	XP_011521609.1:n.861+6T>C
XM_017023597.1:c.861+6T>C	XP_016879086.1:n.861+6T>C
XM_017023598.1:c.861+6T>C	XP_016879087.1:n.861+6T>C
XR_001751971.2:n.900+6T>C
XR_001751972.2:n.900+6T>C