Canonical Allele Identifier: CA397420597

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89532462G>C , CM000678.2:g.89532462G>C	GRCh38
NC_000016.9:g.89598870G>C , CM000678.1:g.89598870G>C	GRCh37
NC_000016.8:g.88126371G>C	NCBI36
NG_008082.1:g.29066G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003119.4:c.1151-1G>C MANE Select	NP_003110.1:n.1151-1G>C
ENST00000645818.2:c.1151-1G>C MANE Select	ENSP00000495795.2:n.1151-1G>C
NM_001363850.1:c.1151-1G>C	NP_001350779.1:n.1151-1G>C
NM_003119.3:c.1151-1G>C	NP_003110.1:n.1151-1G>C
NM_199367.2:c.1151-1G>C	NP_955399.1:n.1151-1G>C
NM_199367.3:c.1151-1G>C	NP_955399.1:n.1151-1G>C
ENST00000268704.6:c.1151-1G>C	ENSP00000268704.2:n.1151-1G>C
ENST00000268704.7:c.1130-1G>C	ENSP00000268704.3:n.1130-1G>C
ENST00000341316.6:c.1151-1G>C	ENSP00000341157.2:n.1151-1G>C
ENST00000561945.1:n.195-1G>C
ENST00000561945.2:n.296-1G>C
ENST00000564409.1:n.610-1G>C
ENST00000564409.2:c.1207-1G>C	ENSP00000495297.1:n.1207-1G>C
ENST00000566682.2:c.164-1G>C	ENSP00000461979.2:n.164-1G>C
ENST00000567138.2:c.33-1G>C
ENST00000567138.3:c.48-1G>C
ENST00000620811.4:c.-426-1G>C	ENSP00000478030.1:n.-426-1G>C
ENST00000642334.1:c.1024-1G>C
ENST00000642371.1:c.1230-1G>C
ENST00000642427.1:n.551-1G>C
ENST00000642436.1:n.389-8482G>C
ENST00000643105.1:c.1071-1G>C
ENST00000643307.1:c.1151-1G>C	ENSP00000495673.1:n.1151-1G>C
ENST00000643345.1:c.*675-1G>C	ENSP00000493982.1:n.*675-1G>C
ENST00000643370.1:c.325-1G>C	ENSP00000494895.1:n.325-1G>C
ENST00000643496.1:n.968-1G>C
ENST00000643649.1:c.1151-1G>C	ENSP00000494806.1:n.1151-1G>C
ENST00000643668.1:c.*1445-1G>C	ENSP00000494903.1:n.*1445-1G>C
ENST00000643724.1:c.*497+1654G>C	ENSP00000496335.1:n.*497+1654G>C
ENST00000643954.1:c.889-1G>C
ENST00000644171.1:n.1125-1G>C
ENST00000644210.1:c.1151-1G>C	ENSP00000495675.1:n.1151-1G>C
ENST00000644225.1:n.1168-1G>C
ENST00000644498.1:c.1130-1G>C	ENSP00000496244.1:n.1130-1G>C
ENST00000644671.1:c.808-1G>C
ENST00000644748.1:n.2582-1G>C
ENST00000644751.1:c.553-1G>C
ENST00000644781.1:c.1151-1G>C	ENSP00000495473.1:n.1151-1G>C
ENST00000644901.1:c.*1104-1G>C	ENSP00000493797.1:n.*1104-1G>C
ENST00000645042.1:c.1151-1G>C	ENSP00000493908.1:n.1151-1G>C
ENST00000645063.1:c.1151-1G>C	ENSP00000493590.1:n.1151-1G>C
ENST00000645258.1:c.82-1G>C
ENST00000645354.1:c.1911-1G>C
ENST00000645886.1:c.378-1G>C
ENST00000645897.1:c.987+1654G>C	ENSP00000495293.1:n.987+1654G>C
ENST00000645977.1:n.2269-1G>C
ENST00000646263.1:c.1151-1G>C	ENSP00000494119.1:n.1151-1G>C
ENST00000646303.1:c.1019-1G>C	ENSP00000494160.1:n.1019-1G>C
ENST00000646399.1:c.834-1G>C
ENST00000646445.1:c.183-12186G>C
ENST00000646454.1:n.710+1505G>C
ENST00000646531.1:c.1151-1G>C	ENSP00000495185.1:n.1151-1G>C
ENST00000646589.1:c.*279-1G>C	ENSP00000494739.1:n.*279-1G>C
ENST00000646716.1:c.377-12186G>C	ENSP00000495593.1:n.377-12186G>C
ENST00000646826.1:c.1151-1G>C	ENSP00000495123.1:n.1151-1G>C
ENST00000646930.1:c.1151-1G>C	ENSP00000495219.1:n.1151-1G>C
ENST00000646958.1:n.2196-1G>C
ENST00000647032.1:c.766-1G>C
ENST00000647079.1:c.743-1G>C	ENSP00000495967.1:n.743-1G>C
ENST00000647227.1:c.914-1G>C
XM_005256321.3:c.1151-1G>C	XP_005256378.1:n.1151-1G>C
XM_005256321.4:c.1151-1G>C	XP_005256378.1:n.1151-1G>C
XM_006721264.2:c.1151-1G>C	XP_006721327.1:n.1151-1G>C
XM_006721264.4:c.1151-1G>C	XP_006721327.1:n.1151-1G>C
XM_011523306.1:c.1151-1G>C	XP_011521608.1:n.1151-1G>C
XM_011523307.1:c.1151-1G>C	XP_011521609.1:n.1151-1G>C
XM_017023597.1:c.1151-1G>C	XP_016879086.1:n.1151-1G>C
XM_017023598.1:c.1151-1G>C	XP_016879087.1:n.1151-1G>C
XR_001751971.2:n.1190-1G>C
XR_001751972.2:n.1190-1G>C