Canonical Allele Identifier: CA8244016
Community Standard Title: NM_003119.4(SPG7):c.1266C>T (p.Ser422=)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89532578C>T , CM000678.2:g.89532578C>T GRCh38
NC_000016.9:g.89598986C>T , CM000678.1:g.89598986C>T GRCh37
NC_000016.8:g.88126487C>T NCBI36
NG_008082.1:g.29182C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1266C>T MANE Select NP_003110.1:p.Ser422=
ENST00000645818.2:c.1266C>T MANE Select ENSP00000495795.2:p.Ser422=
NM_001363850.1:c.1266C>T NP_001350779.1:p.Ser422=
NM_003119.3:c.1266C>T NP_003110.1:p.Ser422=
NM_199367.2:c.1266C>T NP_955399.1:p.Ser422=
NM_199367.3:c.1266C>T NP_955399.1:p.Ser422=
ENST00000268704.6:c.1266C>T ENSP00000268704.2:p.Ser422=
ENST00000268704.7:c.1245C>T ENSP00000268704.3:p.Ser415=
ENST00000341316.6:c.1266C>T ENSP00000341157.2:p.Ser422=
ENST00000561945.1:n.310C>T
ENST00000561945.2:n.411C>T
ENST00000566682.2:c.279C>T ENSP00000461979.2:p.Ser93=
ENST00000567138.2:c.148C>T
ENST00000567138.3:c.163C>T
ENST00000620811.4:c.-311C>T ENSP00000478030.1:n.-311C>T
ENST00000642263.1:n.17C>T
ENST00000642334.1:c.1139C>T
ENST00000642427.1:n.666C>T
ENST00000642436.1:n.389-8366C>T
ENST00000643105.1:c.1186C>T
ENST00000643307.1:c.1266C>T ENSP00000495673.1:p.Ser422=
ENST00000643345.1:c.*790C>T ENSP00000493982.1:n.*790C>T
ENST00000643370.1:c.440C>T ENSP00000494895.1:p.Pro147Leu
ENST00000643496.1:n.1083C>T
ENST00000643649.1:c.1266C>T ENSP00000494806.1:p.Ser422=
ENST00000643668.1:c.*1560C>T ENSP00000494903.1:n.*1560C>T
ENST00000643724.1:c.*497+1770C>T ENSP00000496335.1:n.*497+1770C>T
ENST00000643954.1:c.1004C>T
ENST00000644044.1:c.44C>T
ENST00000644171.1:n.1240C>T
ENST00000644210.1:c.1266C>T ENSP00000495675.1:p.Ser422=
ENST00000644225.1:n.1283C>T
ENST00000644498.1:c.1245C>T ENSP00000496244.1:p.Ser415=
ENST00000644671.1:c.923C>T
ENST00000644748.1:n.2697C>T
ENST00000644751.1:c.668C>T
ENST00000644781.1:c.1266C>T ENSP00000495473.1:p.Ser422=
ENST00000644901.1:c.*1219C>T ENSP00000493797.1:n.*1219C>T
ENST00000645042.1:c.1266C>T ENSP00000493908.1:p.Ser422=
ENST00000645063.1:c.1266C>T ENSP00000493590.1:p.Ser422=
ENST00000645258.1:c.197C>T
ENST00000645354.1:c.2026C>T
ENST00000645886.1:c.493C>T
ENST00000645897.1:c.987+1770C>T ENSP00000495293.1:n.987+1770C>T
ENST00000645977.1:n.2384C>T
ENST00000646263.1:c.1266C>T ENSP00000494119.1:p.Ser422=
ENST00000646303.1:c.1134C>T ENSP00000494160.1:p.Ser378=
ENST00000646399.1:c.949C>T
ENST00000646445.1:c.183-12070C>T
ENST00000646454.1:n.710+1621C>T
ENST00000646531.1:c.1266C>T ENSP00000495185.1:p.Ser422=
ENST00000646589.1:c.*394C>T ENSP00000494739.1:n.*394C>T
ENST00000646716.1:c.377-12070C>T ENSP00000495593.1:n.377-12070C>T
ENST00000646826.1:c.1266C>T ENSP00000495123.1:p.Ser422=
ENST00000646930.1:c.1266C>T ENSP00000495219.1:p.Ser422=
ENST00000646958.1:n.2311C>T
ENST00000647032.1:c.881C>T
ENST00000647079.1:c.858C>T ENSP00000495967.1:p.Ser286=
ENST00000647227.1:c.1029C>T
XM_005256321.3:c.1266C>T XP_005256378.1:p.Ser422=
XM_005256321.4:c.1266C>T XP_005256378.1:p.Ser422=
XM_006721264.2:c.1266C>T XP_006721327.1:p.Ser422=
XM_006721264.4:c.1266C>T XP_006721327.1:p.Ser422=
XM_011523306.1:c.1266C>T XP_011521608.1:p.Ser422=
XM_011523307.1:c.1266C>T XP_011521609.1:p.Ser422=
XM_017023597.1:c.1266C>T XP_016879086.1:p.Ser422=
XM_017023598.1:c.1266C>T XP_016879087.1:p.Ser422=
XR_001751971.2:n.1305C>T
XR_001751972.2:n.1305C>T