Canonical Allele Identifier: CA8243529

Gene: SPG7

Linked Data

• ClinVar Variation Id: 521196
• ClinVar RCV Id: RCV000624073
• dbSNP Id: rs149474131
• ExAC: 16:89579416 C / A
• gnomAD v2: 16-89579416-C-A
• gnomAD v4: 16-89513008-C-A
• MyVariant Identifiers: chr16:g.89579416C>A (hg19) ; chr16:g.89513008C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89513008C>A , CM000678.2:g.89513008C>A	GRCh38
NC_000016.9:g.89579416C>A , CM000678.1:g.89579416C>A	GRCh37
NC_000016.8:g.88106917C>A	NCBI36
NG_008082.1:g.9612C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268704.7:c.347C>A	ENSP00000268704.3:p.Ser116Ter
ENST00000562775.2:n.211C>A
ENST00000564047.2:n.356C>A
ENST00000564409.2:c.116C>A	ENSP00000495297.1:p.Ser39Ter
ENST00000566371.6:c.347C>A	ENSP00000454475.2:p.Ser116Ter
ENST00000569363.2:n.362C>A
ENST00000642334.1:c.220C>A
ENST00000642371.1:c.279C>A
ENST00000642436.1:n.359C>A
ENST00000643105.1:c.267C>A
ENST00000643307.1:c.347C>A	ENSP00000495673.1:p.Ser116Ter
ENST00000643345.1:c.347C>A	ENSP00000493982.1:p.Ser116Ter
ENST00000643649.1:c.347C>A	ENSP00000494806.1:p.Ser116Ter
ENST00000643668.1:c.347C>A	ENSP00000494903.1:p.Ser116Ter
ENST00000643724.1:c.347C>A	ENSP00000496335.1:p.Ser116Ter
ENST00000643954.1:c.85C>A
ENST00000643957.1:c.230C>A	ENSP00000494246.1:p.Ser77Ter
ENST00000644210.1:c.347C>A	ENSP00000495675.1:p.Ser116Ter
ENST00000644225.1:n.364C>A
ENST00000644498.1:c.347C>A	ENSP00000496244.1:p.Ser116Ter
ENST00000644671.1:c.10C>A
ENST00000644781.1:c.347C>A	ENSP00000495473.1:p.Ser116Ter
ENST00000644901.1:c.347C>A	ENSP00000493797.1:p.Ser116Ter
ENST00000645042.1:c.347C>A	ENSP00000493908.1:p.Ser116Ter
ENST00000645063.1:c.347C>A	ENSP00000493590.1:p.Ser116Ter
ENST00000645354.1:c.262C>A
ENST00000645533.1:c.347C>A	ENSP00000495690.1:p.Ser116Ter
ENST00000645818.2:c.347C>A MANE Select	ENSP00000495795.2:p.Ser116Ter
ENST00000645897.1:c.347C>A	ENSP00000495293.1:p.Ser116Ter
ENST00000645977.1:n.362C>A
ENST00000646263.1:c.347C>A	ENSP00000494119.1:p.Ser116Ter
ENST00000646303.1:c.215C>A	ENSP00000494160.1:p.Ser72Ter
ENST00000646399.1:c.30C>A
ENST00000646445.1:c.153C>A
ENST00000646531.1:c.347C>A	ENSP00000495185.1:p.Ser116Ter
ENST00000646589.1:c.347C>A	ENSP00000494739.1:p.Ser116Ter
ENST00000646716.1:c.347C>A	ENSP00000495593.1:p.Ser116Ter
ENST00000646826.1:c.347C>A	ENSP00000495123.1:p.Ser116Ter
ENST00000646930.1:c.347C>A	ENSP00000495219.1:p.Ser116Ter
ENST00000646958.1:n.297C>A
ENST00000647079.1:c.-62C>A	ENSP00000495967.1:n.-62C>A
ENST00000647227.1:c.110C>A
ENST00000268704.6:c.347C>A	ENSP00000268704.2:p.Ser116Ter
ENST00000341316.6:c.347C>A	ENSP00000341157.2:p.Ser116Ter
ENST00000566371.5:c.215C>A	ENSP00000454475.1:p.Ser72Ter
ENST00000568151.1:c.443C>A	ENSP00000457719.1:p.Ser148Ter
ENST00000569363.1:n.188C>A
ENST00000620811.4:c.-1230C>A	ENSP00000478030.1:n.-1230C>A
NM_003119.3:c.347C>A	NP_003110.1:p.Ser116Ter
NM_199367.2:c.347C>A	NP_955399.1:p.Ser116Ter
XM_005256321.3:c.347C>A	XP_005256378.1:p.Ser116Ter
XM_006721264.2:c.347C>A	XP_006721327.1:p.Ser116Ter
XM_011523306.1:c.347C>A	XP_011521608.1:p.Ser116Ter
XM_011523307.1:c.347C>A	XP_011521609.1:p.Ser116Ter
NM_001363850.1:c.347C>A	NP_001350779.1:p.Ser116Ter
XM_005256321.4:c.347C>A	XP_005256378.1:p.Ser116Ter
XM_006721264.4:c.347C>A	XP_006721327.1:p.Ser116Ter
XM_017023597.1:c.347C>A	XP_016879086.1:p.Ser116Ter
XM_017023598.1:c.347C>A	XP_016879087.1:p.Ser116Ter
XR_001751971.2:n.386C>A
XR_001751972.2:n.386C>A
NM_003119.4:c.347C>A MANE Select	NP_003110.1:p.Ser116Ter
NM_199367.3:c.347C>A	NP_955399.1:p.Ser116Ter