Canonical Allele Identifier: CA397417162

Gene: SPG7

Linked Data

• gnomAD v4: 16-89513037-G-A
• MyVariant Identifiers: chr16:g.89579445G>A (hg19) ; chr16:g.89513037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89513037G>A , CM000678.2:g.89513037G>A	GRCh38
NC_000016.9:g.89579445G>A , CM000678.1:g.89579445G>A	GRCh37
NC_000016.8:g.88106946G>A	NCBI36
NG_008082.1:g.9641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.376G>A	ENSP00000268704.3:p.Glu126Lys
ENST00000562775.2:n.240G>A
ENST00000564047.2:n.385G>A
ENST00000564409.2:c.145G>A	ENSP00000495297.1:p.Glu49Lys
ENST00000566371.6:c.376G>A	ENSP00000454475.2:p.Glu126Lys
ENST00000569363.2:n.391G>A
ENST00000642334.1:c.249G>A
ENST00000642371.1:c.308G>A
ENST00000642436.1:n.388G>A
ENST00000643105.1:c.296G>A
ENST00000643178.1:n.24G>A
ENST00000643307.1:c.376G>A	ENSP00000495673.1:p.Glu126Lys
ENST00000643345.1:c.376G>A	ENSP00000493982.1:p.Gly126Ser
ENST00000643649.1:c.376G>A	ENSP00000494806.1:p.Glu126Lys
ENST00000643668.1:c.376G>A	ENSP00000494903.1:p.Val126Ile
ENST00000643724.1:c.376G>A	ENSP00000496335.1:p.Glu126Lys
ENST00000643954.1:c.114G>A
ENST00000643957.1:c.259G>A	ENSP00000494246.1:p.Glu87Lys
ENST00000644210.1:c.376G>A	ENSP00000495675.1:p.Glu126Lys
ENST00000644225.1:n.393G>A
ENST00000644498.1:c.376G>A	ENSP00000496244.1:p.Glu126Lys
ENST00000644671.1:c.39G>A
ENST00000644781.1:c.376G>A	ENSP00000495473.1:p.Glu126Lys
ENST00000644901.1:c.376G>A	ENSP00000493797.1:p.Glu126Lys
ENST00000645042.1:c.376G>A	ENSP00000493908.1:p.Glu126Lys
ENST00000645063.1:c.376G>A	ENSP00000493590.1:p.Glu126Lys
ENST00000645354.1:c.291G>A
ENST00000645533.1:c.376G>A	ENSP00000495690.1:p.Glu126Lys
ENST00000645818.2:c.376G>A MANE Select	ENSP00000495795.2:p.Glu126Lys
ENST00000645897.1:c.376G>A	ENSP00000495293.1:p.Glu126Lys
ENST00000645977.1:n.391G>A
ENST00000646263.1:c.376G>A	ENSP00000494119.1:p.Glu126Lys
ENST00000646303.1:c.244G>A	ENSP00000494160.1:p.Glu82Lys
ENST00000646399.1:c.59G>A
ENST00000646445.1:c.182G>A
ENST00000646531.1:c.376G>A	ENSP00000495185.1:p.Glu126Lys
ENST00000646589.1:c.376G>A	ENSP00000494739.1:p.Glu126Lys
ENST00000646716.1:c.376G>A	ENSP00000495593.1:p.Gly126Arg
ENST00000646826.1:c.376G>A	ENSP00000495123.1:p.Glu126Lys
ENST00000646930.1:c.376G>A	ENSP00000495219.1:p.Glu126Lys
ENST00000646958.1:n.326G>A
ENST00000647079.1:c.-33G>A	ENSP00000495967.1:n.-33G>A
ENST00000647227.1:c.139G>A
ENST00000268704.6:c.376G>A	ENSP00000268704.2:p.Glu126Lys
ENST00000341316.6:c.376G>A	ENSP00000341157.2:p.Glu126Lys
ENST00000566371.5:c.244G>A	ENSP00000454475.1:p.Glu82Lys
ENST00000568151.1:c.472G>A	ENSP00000457719.1:p.Glu158Lys
ENST00000569363.1:n.217G>A
ENST00000620811.4:c.-1201G>A	ENSP00000478030.1:n.-1201G>A
NM_003119.3:c.376G>A	NP_003110.1:p.Glu126Lys
NM_199367.2:c.376G>A	NP_955399.1:p.Glu126Lys
XM_005256321.3:c.376G>A	XP_005256378.1:p.Glu126Lys
XM_006721264.2:c.376G>A	XP_006721327.1:p.Glu126Lys
XM_011523306.1:c.376G>A	XP_011521608.1:p.Glu126Lys
XM_011523307.1:c.376G>A	XP_011521609.1:p.Glu126Lys
NM_001363850.1:c.376G>A	NP_001350779.1:p.Glu126Lys
XM_005256321.4:c.376G>A	XP_005256378.1:p.Glu126Lys
XM_006721264.4:c.376G>A	XP_006721327.1:p.Glu126Lys
XM_017023597.1:c.376G>A	XP_016879086.1:p.Glu126Lys
XM_017023598.1:c.376G>A	XP_016879087.1:p.Glu126Lys
XR_001751971.2:n.415G>A
XR_001751972.2:n.415G>A
NM_003119.4:c.376G>A MANE Select	NP_003110.1:p.Glu126Lys
NM_199367.3:c.376G>A	NP_955399.1:p.Glu126Lys