Canonical Allele Identifier: CA397425404
Community Standard Title: NM_003119.4(SPG7):c.1420C>T (p.His474Tyr)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89544743C>T , CM000678.2:g.89544743C>T GRCh38
NC_000016.9:g.89611151C>T , CM000678.1:g.89611151C>T GRCh37
NC_000016.8:g.88138652C>T NCBI36
NG_008082.1:g.41347C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1420C>T MANE Select NP_003110.1:p.His474Tyr
ENST00000645818.2:c.1420C>T MANE Select ENSP00000495795.2:p.His474Tyr
NM_001363850.1:c.1420C>T NP_001350779.1:p.His474Tyr
NM_003119.3:c.1420C>T NP_003110.1:p.His474Tyr
ENST00000268704.6:c.1420C>T ENSP00000268704.2:p.His474Tyr
ENST00000268704.7:c.1399C>T ENSP00000268704.3:p.His467Tyr
ENST00000561945.2:n.565C>T
ENST00000563218.5:n.146C>T
ENST00000566221.5:c.18C>T
ENST00000566682.2:c.433C>T ENSP00000461979.2:p.His145Tyr
ENST00000569820.5:c.96C>T
ENST00000569820.6:c.96C>T
ENST00000620811.4:c.-157C>T ENSP00000478030.1:n.-157C>T
ENST00000642226.1:n.1054C>T
ENST00000642263.1:n.171C>T
ENST00000642334.1:c.2629C>T
ENST00000642427.1:n.820C>T
ENST00000642814.1:n.835C>T
ENST00000642984.1:n.1016C>T
ENST00000643105.1:c.1340C>T
ENST00000643345.1:c.*944C>T ENSP00000493982.1:n.*944C>T
ENST00000643350.1:n.268C>T
ENST00000643370.1:c.594C>T ENSP00000494895.1:n.594C>T
ENST00000643409.1:n.1059C>T
ENST00000643496.1:n.1237C>T
ENST00000643649.1:c.1420C>T ENSP00000494806.1:p.His474Tyr
ENST00000643668.1:c.*1714C>T ENSP00000494903.1:n.*1714C>T
ENST00000643724.1:c.*498-1915C>T ENSP00000496335.1:n.*498-1915C>T
ENST00000643734.1:n.4333C>T
ENST00000643954.1:c.2319C>T
ENST00000644044.1:c.514C>T
ENST00000644061.1:n.378C>T
ENST00000644171.1:n.1394C>T
ENST00000644210.1:c.1420C>T ENSP00000495675.1:p.His474Tyr
ENST00000644225.1:n.1437C>T
ENST00000644498.1:c.*1239C>T ENSP00000496244.1:n.*1239C>T
ENST00000644556.1:n.260+3471C>T
ENST00000644671.1:c.1077C>T
ENST00000644748.1:n.2851C>T
ENST00000644751.1:c.822C>T
ENST00000644781.1:c.1420C>T ENSP00000495473.1:p.His474Tyr
ENST00000644901.1:c.*1814C>T ENSP00000493797.1:n.*1814C>T
ENST00000644930.1:n.1760C>T
ENST00000645042.1:c.1420C>T ENSP00000493908.1:p.His474Tyr
ENST00000645063.1:c.1420C>T ENSP00000493590.1:p.His474Tyr
ENST00000645258.1:c.754C>T
ENST00000645354.1:c.2180C>T
ENST00000645392.1:n.1761C>T
ENST00000645842.1:n.1056C>T
ENST00000645886.1:c.925C>T
ENST00000645897.1:c.988-1915C>T ENSP00000495293.1:n.988-1915C>T
ENST00000645944.1:n.884C>T
ENST00000645952.1:n.975C>T
ENST00000645977.1:n.2538C>T
ENST00000646005.1:n.1054C>T
ENST00000646263.1:c.*134C>T ENSP00000494119.1:n.*134C>T
ENST00000646303.1:c.1288C>T ENSP00000494160.1:p.His430Tyr
ENST00000646399.1:c.2314C>T
ENST00000646445.1:c.278C>T
ENST00000646454.1:n.711-1915C>T
ENST00000646531.1:c.1420C>T ENSP00000495185.1:p.His474Tyr
ENST00000646543.1:n.765C>T
ENST00000646589.1:c.*548C>T ENSP00000494739.1:n.*548C>T
ENST00000646716.1:c.472C>T ENSP00000495593.1:p.His158Tyr
ENST00000646826.1:c.1420C>T ENSP00000495123.1:p.His474Tyr
ENST00000646930.1:c.*1190C>T ENSP00000495219.1:n.*1190C>T
ENST00000646958.1:n.2465C>T
ENST00000647032.1:c.1035C>T
ENST00000647079.1:c.1012C>T ENSP00000495967.1:p.His338Tyr
ENST00000647123.1:n.1168C>T
ENST00000647227.1:c.1088-1915C>T
ENST00000647302.1:n.1760C>T
ENST00000647491.1:n.1005C>T
XM_006721264.2:c.1420C>T XP_006721327.1:p.His474Tyr
XM_006721264.4:c.1420C>T XP_006721327.1:p.His474Tyr
XM_011523306.1:c.1420C>T XP_011521608.1:p.His474Tyr
XM_017023597.1:c.1420C>T XP_016879086.1:p.His474Tyr
XM_017023598.1:c.1420C>T XP_016879087.1:p.His474Tyr
XR_001751971.2:n.1459C>T
XR_001751972.2:n.1459C>T