Canonical Allele Identifier: CA253966
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6816
dbSNP Id: rs121918358

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89510539T>A , CM000678.2:g.89510539T>A GRCh38
NC_000016.9:g.89576947T>A , CM000678.1:g.89576947T>A GRCh37
NC_000016.8:g.88104448T>A NCBI36
NG_008082.1:g.7143T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268704.7:c.233T>A ENSP00000268704.3:p.Leu78Ter
ENST00000562775.2:n.97T>A
ENST00000564047.2:n.242T>A
ENST00000564409.2:c.2T>A ENSP00000495297.1:p.Leu1Ter
ENST00000566371.6:c.233T>A ENSP00000454475.2:p.Leu78Ter
ENST00000569363.2:n.248T>A
ENST00000642334.1:c.106T>A
ENST00000642371.1:c.165T>A
ENST00000642436.1:n.245T>A
ENST00000643105.1:c.153T>A
ENST00000643307.1:c.233T>A ENSP00000495673.1:p.Leu78Ter
ENST00000643345.1:c.233T>A ENSP00000493982.1:p.Leu78Ter
ENST00000643649.1:c.233T>A ENSP00000494806.1:p.Leu78Ter
ENST00000643668.1:c.233T>A ENSP00000494903.1:p.Leu78Ter
ENST00000643724.1:c.233T>A ENSP00000496335.1:p.Leu78Ter
ENST00000643957.1:c.116T>A ENSP00000494246.1:p.Leu39Ter
ENST00000644210.1:c.233T>A ENSP00000495675.1:p.Leu78Ter
ENST00000644225.1:n.250T>A
ENST00000644498.1:c.233T>A ENSP00000496244.1:p.Leu78Ter
ENST00000644781.1:c.233T>A ENSP00000495473.1:p.Leu78Ter
ENST00000644901.1:c.233T>A ENSP00000493797.1:p.Leu78Ter
ENST00000645042.1:c.233T>A ENSP00000493908.1:p.Leu78Ter
ENST00000645063.1:c.233T>A ENSP00000493590.1:p.Leu78Ter
ENST00000645354.1:c.148T>A
ENST00000645533.1:c.233T>A ENSP00000495690.1:p.Leu78Ter
ENST00000645818.2:c.233T>A MANE Select ENSP00000495795.2:p.Leu78Ter
ENST00000645897.1:c.233T>A ENSP00000495293.1:p.Leu78Ter
ENST00000645977.1:n.248T>A
ENST00000646263.1:c.233T>A ENSP00000494119.1:p.Leu78Ter
ENST00000646303.1:c.101T>A ENSP00000494160.1:p.Leu34Ter
ENST00000646445.1:c.39T>A
ENST00000646531.1:c.233T>A ENSP00000495185.1:p.Leu78Ter
ENST00000646589.1:c.233T>A ENSP00000494739.1:p.Leu78Ter
ENST00000646716.1:c.233T>A ENSP00000495593.1:p.Leu78Ter
ENST00000646826.1:c.233T>A ENSP00000495123.1:p.Leu78Ter
ENST00000646930.1:c.233T>A ENSP00000495219.1:p.Leu78Ter
ENST00000646958.1:n.183T>A
ENST00000647079.1:c.-176T>A ENSP00000495967.1:n.-176T>A
ENST00000647227.1:c.49+1939T>A
ENST00000268704.6:c.233T>A ENSP00000268704.2:p.Leu78Ter
ENST00000341316.6:c.233T>A ENSP00000341157.2:p.Leu78Ter
ENST00000563783.5:n.520T>A
ENST00000566371.5:c.101T>A ENSP00000454475.1:p.Leu34Ter
ENST00000568151.1:c.329T>A ENSP00000457719.1:p.Leu110Ter
ENST00000569363.1:n.74T>A
ENST00000620811.4:c.-1344T>A ENSP00000478030.1:n.-1344T>A
NM_003119.3:c.233T>A NP_003110.1:p.Leu78Ter
NM_199367.2:c.233T>A NP_955399.1:p.Leu78Ter
XM_005256321.3:c.233T>A XP_005256378.1:p.Leu78Ter
XM_006721264.2:c.233T>A XP_006721327.1:p.Leu78Ter
XM_011523306.1:c.233T>A XP_011521608.1:p.Leu78Ter
XM_011523307.1:c.233T>A XP_011521609.1:p.Leu78Ter
NM_001363850.1:c.233T>A NP_001350779.1:p.Leu78Ter
XM_005256321.4:c.233T>A XP_005256378.1:p.Leu78Ter
XM_006721264.4:c.233T>A XP_006721327.1:p.Leu78Ter
XM_017023597.1:c.233T>A XP_016879086.1:p.Leu78Ter
XM_017023598.1:c.233T>A XP_016879087.1:p.Leu78Ter
XR_001751971.2:n.272T>A
XR_001751972.2:n.272T>A
NM_003119.4:c.233T>A MANE Select NP_003110.1:p.Leu78Ter
NM_199367.3:c.233T>A NP_955399.1:p.Leu78Ter