Canonical Allele Identifier: CA397421399

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89532638T>G , CM000678.2:g.89532638T>G	GRCh38
NC_000016.9:g.89599046T>G , CM000678.1:g.89599046T>G	GRCh37
NC_000016.8:g.88126547T>G	NCBI36
NG_008082.1:g.29242T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003119.4:c.1324+2T>G MANE Select	NP_003110.1:n.1324+2T>G
ENST00000645818.2:c.1324+2T>G MANE Select	ENSP00000495795.2:n.1324+2T>G
NM_001363850.1:c.1324+2T>G	NP_001350779.1:n.1324+2T>G
NM_003119.3:c.1324+2T>G	NP_003110.1:n.1324+2T>G
NM_199367.2:c.1324+2T>G	NP_955399.1:n.1324+2T>G
NM_199367.3:c.1324+2T>G	NP_955399.1:n.1324+2T>G
ENST00000268704.6:c.1324+2T>G	ENSP00000268704.2:n.1324+2T>G
ENST00000268704.7:c.1303+2T>G	ENSP00000268704.3:n.1303+2T>G
ENST00000341316.6:c.1324+2T>G	ENSP00000341157.2:n.1324+2T>G
ENST00000561945.1:n.368+2T>G
ENST00000561945.2:n.469+2T>G
ENST00000563218.5:n.50+2T>G
ENST00000566682.2:c.337+2T>G	ENSP00000461979.2:n.337+2T>G
ENST00000567138.2:c.208T>G
ENST00000567138.3:c.223T>G
ENST00000620811.4:c.-253+2T>G	ENSP00000478030.1:n.-253+2T>G
ENST00000642263.1:n.75+2T>G
ENST00000642334.1:c.1197+2T>G
ENST00000642427.1:n.724+2T>G
ENST00000642436.1:n.389-8306T>G
ENST00000643105.1:c.1244+2T>G
ENST00000643307.1:c.1324+2T>G	ENSP00000495673.1:n.1324+2T>G
ENST00000643345.1:c.*848+2T>G	ENSP00000493982.1:n.*848+2T>G
ENST00000643370.1:c.498+2T>G	ENSP00000494895.1:n.498+2T>G
ENST00000643496.1:n.1141+2T>G
ENST00000643649.1:c.1324+2T>G	ENSP00000494806.1:n.1324+2T>G
ENST00000643668.1:c.*1618+2T>G	ENSP00000494903.1:n.*1618+2T>G
ENST00000643724.1:c.*497+1830T>G	ENSP00000496335.1:n.*497+1830T>G
ENST00000643954.1:c.1062+2T>G
ENST00000644044.1:c.102+2T>G
ENST00000644171.1:n.1298+2T>G
ENST00000644210.1:c.1324+2T>G	ENSP00000495675.1:n.1324+2T>G
ENST00000644225.1:n.1341+2T>G
ENST00000644498.1:c.1303+2T>G	ENSP00000496244.1:n.1303+2T>G
ENST00000644556.1:n.56+2T>G
ENST00000644671.1:c.981+2T>G
ENST00000644748.1:n.2755+2T>G
ENST00000644751.1:c.726+2T>G
ENST00000644781.1:c.1324+2T>G	ENSP00000495473.1:n.1324+2T>G
ENST00000644901.1:c.*1277+2T>G	ENSP00000493797.1:n.*1277+2T>G
ENST00000645042.1:c.1324+2T>G	ENSP00000493908.1:n.1324+2T>G
ENST00000645063.1:c.1324+2T>G	ENSP00000493590.1:n.1324+2T>G
ENST00000645258.1:c.255+2T>G
ENST00000645354.1:c.2084+2T>G
ENST00000645886.1:c.551+2T>G
ENST00000645897.1:c.987+1830T>G	ENSP00000495293.1:n.987+1830T>G
ENST00000645977.1:n.2442+2T>G
ENST00000646263.1:c.1324+2T>G	ENSP00000494119.1:n.1324+2T>G
ENST00000646303.1:c.1192+2T>G	ENSP00000494160.1:n.1192+2T>G
ENST00000646399.1:c.1007+2T>G
ENST00000646445.1:c.183-12010T>G
ENST00000646454.1:n.710+1681T>G
ENST00000646531.1:c.1324+2T>G	ENSP00000495185.1:n.1324+2T>G
ENST00000646589.1:c.*452+2T>G	ENSP00000494739.1:n.*452+2T>G
ENST00000646716.1:c.377-12010T>G	ENSP00000495593.1:n.377-12010T>G
ENST00000646826.1:c.1324+2T>G	ENSP00000495123.1:n.1324+2T>G
ENST00000646930.1:c.1324+2T>G	ENSP00000495219.1:n.1324+2T>G
ENST00000646958.1:n.2369+2T>G
ENST00000647032.1:c.939+2T>G
ENST00000647079.1:c.916+2T>G	ENSP00000495967.1:n.916+2T>G
ENST00000647227.1:c.1087+2T>G
XM_005256321.3:c.1324+2T>G	XP_005256378.1:n.1324+2T>G
XM_005256321.4:c.1324+2T>G	XP_005256378.1:n.1324+2T>G
XM_006721264.2:c.1324+2T>G	XP_006721327.1:n.1324+2T>G
XM_006721264.4:c.1324+2T>G	XP_006721327.1:n.1324+2T>G
XM_011523306.1:c.1324+2T>G	XP_011521608.1:n.1324+2T>G
XM_011523307.1:c.1324+2T>G	XP_011521609.1:n.1324+2T>G
XM_017023597.1:c.1324+2T>G	XP_016879086.1:n.1324+2T>G
XM_017023598.1:c.1324+2T>G	XP_016879087.1:n.1324+2T>G
XR_001751971.2:n.1363+2T>G
XR_001751972.2:n.1363+2T>G