Canonical Allele Identifier: CA397420893

Gene: SPG7

Linked Data

• ClinVar Variation Id: 427079
• ClinVar RCV Id: RCV000490105 ; RCV001643206
• dbSNP Id: rs745444834
• gnomAD v4: 16-89532543-G-A
• MyVariant Identifiers: chr16:g.89598951G>A (hg19) ; chr16:g.89532543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89532543G>A , CM000678.2:g.89532543G>A	GRCh38
NC_000016.9:g.89598951G>A , CM000678.1:g.89598951G>A	GRCh37
NC_000016.8:g.88126452G>A	NCBI36
NG_008082.1:g.29147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1210G>A	ENSP00000268704.3:p.Asp404Asn
ENST00000561945.2:n.376G>A
ENST00000564409.2:c.1287G>A	ENSP00000495297.1:n.1287G>A
ENST00000566682.2:c.244G>A	ENSP00000461979.2:p.Asp82Asn
ENST00000567138.3:c.128G>A
ENST00000642334.1:c.1104G>A
ENST00000642427.1:n.631G>A
ENST00000642436.1:n.389-8401G>A
ENST00000643105.1:c.1151G>A
ENST00000643307.1:c.1231G>A	ENSP00000495673.1:p.Asp411Asn
ENST00000643345.1:c.*755G>A	ENSP00000493982.1:n.*755G>A
ENST00000643370.1:c.405G>A	ENSP00000494895.1:p.Ser135=
ENST00000643496.1:n.1048G>A
ENST00000643649.1:c.1231G>A	ENSP00000494806.1:p.Asp411Asn
ENST00000643668.1:c.*1525G>A	ENSP00000494903.1:n.*1525G>A
ENST00000643724.1:c.*497+1735G>A	ENSP00000496335.1:n.*497+1735G>A
ENST00000643954.1:c.969G>A
ENST00000644044.1:c.9G>A
ENST00000644171.1:n.1205G>A
ENST00000644210.1:c.1231G>A	ENSP00000495675.1:p.Asp411Asn
ENST00000644225.1:n.1248G>A
ENST00000644498.1:c.1210G>A	ENSP00000496244.1:p.Asp404Asn
ENST00000644671.1:c.888G>A
ENST00000644748.1:n.2662G>A
ENST00000644751.1:c.633G>A
ENST00000644781.1:c.1231G>A	ENSP00000495473.1:p.Asp411Asn
ENST00000644901.1:c.*1184G>A	ENSP00000493797.1:n.*1184G>A
ENST00000645042.1:c.1231G>A	ENSP00000493908.1:p.Asp411Asn
ENST00000645063.1:c.1231G>A	ENSP00000493590.1:p.Asp411Asn
ENST00000645258.1:c.162G>A
ENST00000645354.1:c.1991G>A
ENST00000645818.2:c.1231G>A MANE Select	ENSP00000495795.2:p.Asp411Asn
ENST00000645886.1:c.458G>A
ENST00000645897.1:c.987+1735G>A	ENSP00000495293.1:n.987+1735G>A
ENST00000645977.1:n.2349G>A
ENST00000646263.1:c.1231G>A	ENSP00000494119.1:p.Asp411Asn
ENST00000646303.1:c.1099G>A	ENSP00000494160.1:p.Asp367Asn
ENST00000646399.1:c.914G>A
ENST00000646445.1:c.183-12105G>A
ENST00000646454.1:n.710+1586G>A
ENST00000646531.1:c.1231G>A	ENSP00000495185.1:p.Asp411Asn
ENST00000646589.1:c.*359G>A	ENSP00000494739.1:n.*359G>A
ENST00000646716.1:c.377-12105G>A	ENSP00000495593.1:n.377-12105G>A
ENST00000646826.1:c.1231G>A	ENSP00000495123.1:p.Asp411Asn
ENST00000646930.1:c.1231G>A	ENSP00000495219.1:p.Asp411Asn
ENST00000646958.1:n.2276G>A
ENST00000647032.1:c.846G>A
ENST00000647079.1:c.823G>A	ENSP00000495967.1:p.Asp275Asn
ENST00000647227.1:c.994G>A
ENST00000268704.6:c.1231G>A	ENSP00000268704.2:p.Asp411Asn
ENST00000341316.6:c.1231G>A	ENSP00000341157.2:p.Asp411Asn
ENST00000561945.1:n.275G>A
ENST00000564409.1:n.690G>A
ENST00000567138.2:c.113G>A
ENST00000620811.4:c.-346G>A	ENSP00000478030.1:n.-346G>A
NM_003119.3:c.1231G>A	NP_003110.1:p.Asp411Asn
NM_199367.2:c.1231G>A	NP_955399.1:p.Asp411Asn
XM_005256321.3:c.1231G>A	XP_005256378.1:p.Asp411Asn
XM_006721264.2:c.1231G>A	XP_006721327.1:p.Asp411Asn
XM_011523306.1:c.1231G>A	XP_011521608.1:p.Asp411Asn
XM_011523307.1:c.1231G>A	XP_011521609.1:p.Asp411Asn
NM_001363850.1:c.1231G>A	NP_001350779.1:p.Asp411Asn
XM_005256321.4:c.1231G>A	XP_005256378.1:p.Asp411Asn
XM_006721264.4:c.1231G>A	XP_006721327.1:p.Asp411Asn
XM_017023597.1:c.1231G>A	XP_016879086.1:p.Asp411Asn
XM_017023598.1:c.1231G>A	XP_016879087.1:p.Asp411Asn
XR_001751971.2:n.1270G>A
XR_001751972.2:n.1270G>A
NM_003119.4:c.1231G>A MANE Select	NP_003110.1:p.Asp411Asn
NM_199367.3:c.1231G>A	NP_955399.1:p.Asp411Asn