Canonical Allele Identifier: CA2241758886
Community Standard Title: NM_003119.4(SPG7):c.1507A= (p.Thr503=)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89546715A= , CM000678.2:g.89546715A= GRCh38
NC_000016.9:g.89613123A= , CM000678.1:g.89613123A= GRCh37
NC_000016.8:g.88140624A= NCBI36
NG_008082.1:g.43319A=

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1507A= MANE Select NP_003110.1:p.Thr503=
ENST00000645818.2:c.1507A= MANE Select ENSP00000495795.2:p.Thr503=
NM_001363850.1:c.1507A= NP_001350779.1:p.Thr503=
NM_003119.3:c.1507A= NP_003110.1:p.Thr503=
ENST00000268704.6:c.1507A= ENSP00000268704.2:p.Thr503=
ENST00000268704.7:c.1486A= ENSP00000268704.3:p.Thr496=
ENST00000561911.5:c.52A= ENSP00000457387.1:p.Thr18=
ENST00000563218.5:n.233A=
ENST00000563218.6:n.566A=
ENST00000566221.5:c.105A=
ENST00000566682.2:c.520A= ENSP00000461979.2:p.Thr174=
ENST00000569820.5:c.392A=
ENST00000569820.6:c.493A=
ENST00000620811.4:c.-70A= ENSP00000478030.1:n.-70A=
ENST00000642226.1:n.1356A=
ENST00000642263.1:n.258A=
ENST00000642334.1:c.2925A=
ENST00000642427.1:n.907A=
ENST00000642814.1:n.922A=
ENST00000642984.1:n.1103A=
ENST00000643105.1:c.2213A=
ENST00000643350.1:n.564A=
ENST00000643370.1:c.681A= ENSP00000494895.1:n.681A=
ENST00000643409.1:n.1932A=
ENST00000643496.1:n.1324A=
ENST00000643649.1:c.1507A= ENSP00000494806.1:p.Thr503=
ENST00000643668.1:c.*1801A= ENSP00000494903.1:n.*1801A=
ENST00000643724.1:c.*555A= ENSP00000496335.1:n.*555A=
ENST00000643734.1:n.4420A=
ENST00000643954.1:c.2406A=
ENST00000644061.1:n.465A=
ENST00000644171.1:n.2267A=
ENST00000644210.1:c.*79A= ENSP00000495675.1:n.*79A=
ENST00000644225.1:n.1524A=
ENST00000644464.1:n.160A=
ENST00000644498.1:c.*1326A= ENSP00000496244.1:n.*1326A=
ENST00000644556.1:n.261-1587A=
ENST00000644671.1:c.1164A=
ENST00000644748.1:n.4823A=
ENST00000644751.1:c.851+1943A=
ENST00000644781.1:c.1507A= ENSP00000495473.1:p.Thr503=
ENST00000644901.1:c.*1901A= ENSP00000493797.1:n.*1901A=
ENST00000644930.1:n.2633A=
ENST00000645042.1:c.*281A= ENSP00000493908.1:n.*281A=
ENST00000645063.1:c.1507A= ENSP00000493590.1:p.Thr503=
ENST00000645354.1:c.2267A=
ENST00000645392.1:n.1848A=
ENST00000645742.1:n.141A=
ENST00000645842.1:n.1352A=
ENST00000645886.1:c.1012A=
ENST00000645897.1:c.1045A= ENSP00000495293.1:p.Thr349=
ENST00000645944.1:n.1281A=
ENST00000645952.1:n.1372A=
ENST00000645977.1:n.2625A=
ENST00000646005.1:n.1265A=
ENST00000646263.1:c.*380A= ENSP00000494119.1:n.*380A=
ENST00000646303.1:c.1375A= ENSP00000494160.1:p.Thr459=
ENST00000646399.1:c.2401A=
ENST00000646445.1:c.365A=
ENST00000646454.1:n.768A=
ENST00000646531.1:c.*130A= ENSP00000495185.1:n.*130A=
ENST00000646543.1:n.2261A=
ENST00000646589.1:c.*635A= ENSP00000494739.1:n.*635A=
ENST00000646716.1:c.559A= ENSP00000495593.1:p.Thr187=
ENST00000646826.1:c.*180A= ENSP00000495123.1:n.*180A=
ENST00000646930.1:c.*1436A= ENSP00000495219.1:n.*1436A=
ENST00000646958.1:n.2552A=
ENST00000647032.1:c.1122A=
ENST00000647079.1:c.1099A= ENSP00000495967.1:p.Thr367=
ENST00000647123.1:n.1464A=
ENST00000647227.1:c.1145A=
ENST00000647302.1:n.2157A=
ENST00000647491.1:n.1251A=
XM_006721264.2:c.1507A= XP_006721327.1:p.Thr503=
XM_006721264.4:c.1507A= XP_006721327.1:p.Thr503=
XM_017023597.1:c.1507A= XP_016879086.1:p.Thr503=
XM_017023598.1:c.1507A= XP_016879087.1:p.Thr503=
XR_001751971.2:n.1856A=
XR_001751972.2:n.1856A=