Canonical Allele Identifier: CA253968

Gene: SPG7

Linked Data

• ClinVar Variation Id: 6819
• ClinVar RCV Id: RCV000007221 ; RCV000198037 ; RCV001847595 ; RCV002512867
• dbSNP Id: rs141659620
• ExAC: 16:89598369 G / A
• gnomAD v2: 16-89598369-G-A
• gnomAD v3: 16-89531961-G-A
• gnomAD v4: 16-89531961-G-A
• MyVariant Identifiers: chr16:g.89598369G>A (hg19) ; chr16:g.89531961G>A (hg38)
• PubMed: PMID:18799786 ; PMID:20186691 ; PMID:21623769 ; PMID:22964162 ; PMID:23065789 ; PMID:23269439 ; PMID:23733235 ; PMID:23812641 ; PMID:25034272 ; PMID:25133958 ; PMID:26626314

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89531961G>A , CM000678.2:g.89531961G>A	GRCh38
NC_000016.9:g.89598369G>A , CM000678.1:g.89598369G>A	GRCh37
NC_000016.8:g.88125870G>A	NCBI36
NG_008082.1:g.28565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1024G>A	ENSP00000268704.3:p.Gly342Ser
ENST00000561945.2:n.190G>A
ENST00000564409.2:c.1101G>A	ENSP00000495297.1:n.1101G>A
ENST00000566682.2:c.58G>A	ENSP00000461979.2:p.Gly20Ser
ENST00000642334.1:c.918G>A
ENST00000642371.1:c.1124G>A
ENST00000642427.1:n.445G>A
ENST00000642436.1:n.389-8983G>A
ENST00000643105.1:c.965G>A
ENST00000643178.1:n.590G>A
ENST00000643307.1:c.1045G>A	ENSP00000495673.1:p.Gly349Ser
ENST00000643345.1:c.*569G>A	ENSP00000493982.1:n.*569G>A
ENST00000643370.1:c.325-502G>A	ENSP00000494895.1:n.325-502G>A
ENST00000643496.1:n.862G>A
ENST00000643649.1:c.1045G>A	ENSP00000494806.1:p.Gly349Ser
ENST00000643668.1:c.*1339G>A	ENSP00000494903.1:n.*1339G>A
ENST00000643724.1:c.*497+1153G>A	ENSP00000496335.1:n.*497+1153G>A
ENST00000643954.1:c.783G>A
ENST00000644171.1:n.1019G>A
ENST00000644210.1:c.1045G>A	ENSP00000495675.1:p.Gly349Ser
ENST00000644225.1:n.1062G>A
ENST00000644498.1:c.1024G>A	ENSP00000496244.1:p.Gly342Ser
ENST00000644671.1:c.702G>A
ENST00000644748.1:n.2476G>A
ENST00000644751.1:c.447G>A
ENST00000644781.1:c.1045G>A	ENSP00000495473.1:p.Gly349Ser
ENST00000644901.1:c.*998G>A	ENSP00000493797.1:n.*998G>A
ENST00000645042.1:c.1045G>A	ENSP00000493908.1:p.Gly349Ser
ENST00000645063.1:c.1045G>A	ENSP00000493590.1:p.Gly349Ser
ENST00000645354.1:c.1805G>A
ENST00000645533.1:c.*174G>A	ENSP00000495690.1:n.*174G>A
ENST00000645818.2:c.1045G>A MANE Select	ENSP00000495795.2:p.Gly349Ser
ENST00000645886.1:c.272G>A
ENST00000645897.1:c.987+1153G>A	ENSP00000495293.1:n.987+1153G>A
ENST00000645977.1:n.2163G>A
ENST00000646263.1:c.1045G>A	ENSP00000494119.1:p.Gly349Ser
ENST00000646303.1:c.913G>A	ENSP00000494160.1:p.Gly305Ser
ENST00000646399.1:c.728G>A
ENST00000646445.1:c.183-12687G>A
ENST00000646454.1:n.710+1004G>A
ENST00000646531.1:c.1045G>A	ENSP00000495185.1:p.Gly349Ser
ENST00000646589.1:c.*173G>A	ENSP00000494739.1:n.*173G>A
ENST00000646716.1:c.377-12687G>A	ENSP00000495593.1:n.377-12687G>A
ENST00000646826.1:c.1045G>A	ENSP00000495123.1:p.Gly349Ser
ENST00000646930.1:c.1045G>A	ENSP00000495219.1:p.Gly349Ser
ENST00000646958.1:n.2090G>A
ENST00000647032.1:c.660G>A
ENST00000647079.1:c.637G>A	ENSP00000495967.1:p.Gly213Ser
ENST00000647227.1:c.808G>A
ENST00000268704.6:c.1045G>A	ENSP00000268704.2:p.Gly349Ser
ENST00000341316.6:c.1045G>A	ENSP00000341157.2:p.Gly349Ser
ENST00000561945.1:n.89G>A
ENST00000564409.1:n.504G>A
ENST00000620811.4:c.-532G>A	ENSP00000478030.1:n.-532G>A
NM_003119.3:c.1045G>A	NP_003110.1:p.Gly349Ser
NM_199367.2:c.1045G>A	NP_955399.1:p.Gly349Ser
XM_005256321.3:c.1045G>A	XP_005256378.1:p.Gly349Ser
XM_006721264.2:c.1045G>A	XP_006721327.1:p.Gly349Ser
XM_011523306.1:c.1045G>A	XP_011521608.1:p.Gly349Ser
XM_011523307.1:c.1045G>A	XP_011521609.1:p.Gly349Ser
NM_001363850.1:c.1045G>A	NP_001350779.1:p.Gly349Ser
XM_005256321.4:c.1045G>A	XP_005256378.1:p.Gly349Ser
XM_006721264.4:c.1045G>A	XP_006721327.1:p.Gly349Ser
XM_017023597.1:c.1045G>A	XP_016879086.1:p.Gly349Ser
XM_017023598.1:c.1045G>A	XP_016879087.1:p.Gly349Ser
XR_001751971.2:n.1084G>A
XR_001751972.2:n.1084G>A
NM_003119.4:c.1045G>A MANE Select	NP_003110.1:p.Gly349Ser
NM_199367.3:c.1045G>A	NP_955399.1:p.Gly349Ser