Canonical Allele Identifier: CA397432903
Community Standard Title: NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553122C>T , CM000678.2:g.89553122C>T GRCh38
NC_000016.9:g.89619530C>T , CM000678.1:g.89619530C>T GRCh37
NC_000016.8:g.88147031C>T NCBI36
NG_008082.1:g.49726C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1923C>T MANE Select NP_003110.1:p.Asn641=
ENST00000645818.2:c.1923C>T MANE Select ENSP00000495795.2:p.Asn641=
NM_001363850.1:c.1923C>T NP_001350779.1:p.Asn641=
NM_003119.3:c.1923C>T NP_003110.1:p.Asn641=
ENST00000268704.6:c.1923C>T ENSP00000268704.2:p.Asn641=
ENST00000268704.7:c.1902C>T ENSP00000268704.3:p.Asn634=
ENST00000561702.5:n.908C>T
ENST00000561702.6:n.2595C>T
ENST00000561911.5:c.468C>T ENSP00000457387.1:p.Asn156=
ENST00000566682.1:c.59C>T
ENST00000566682.2:c.936C>T ENSP00000461979.2:p.Asn312=
ENST00000568205.1:n.218C>T
ENST00000569720.2:n.606C>T
ENST00000569820.5:c.1165C>T
ENST00000569820.6:c.2196C>T
ENST00000620811.4:c.685C>T ENSP00000478030.1:p.Arg229Ter
ENST00000642226.1:n.1986C>T
ENST00000642334.1:c.3341C>T
ENST00000642814.1:n.1338C>T
ENST00000642984.1:n.1646C>T
ENST00000643105.1:c.2629C>T
ENST00000643350.1:n.1337C>T
ENST00000643409.1:n.2348C>T
ENST00000643496.1:n.1740C>T
ENST00000643649.1:c.1812C>T ENSP00000494806.1:p.Asn604=
ENST00000643668.1:c.*2217C>T ENSP00000494903.1:n.*2217C>T
ENST00000643724.1:c.*971C>T ENSP00000496335.1:n.*971C>T
ENST00000643954.1:c.2822C>T
ENST00000644171.1:n.2683C>T
ENST00000644210.1:c.*495C>T ENSP00000495675.1:n.*495C>T
ENST00000644225.1:n.1940C>T
ENST00000644281.1:n.1949C>T
ENST00000644464.1:n.576C>T
ENST00000644498.1:c.*1742C>T ENSP00000496244.1:n.*1742C>T
ENST00000644671.1:c.1580C>T
ENST00000644751.1:c.1111C>T
ENST00000644781.1:c.1878C>T ENSP00000495473.1:p.Asn626=
ENST00000644901.1:c.*2317C>T ENSP00000493797.1:n.*2317C>T
ENST00000645042.1:c.*697C>T ENSP00000493908.1:n.*697C>T
ENST00000645063.1:c.1923C>T ENSP00000493590.1:p.Asn641=
ENST00000645354.1:c.2683C>T
ENST00000645392.1:n.2264C>T
ENST00000645742.1:n.557C>T
ENST00000645842.1:n.1768C>T
ENST00000645886.1:c.1428C>T
ENST00000645897.1:c.1461C>T ENSP00000495293.1:p.Asn487=
ENST00000645952.1:n.1788C>T
ENST00000645977.1:n.3041C>T
ENST00000646005.1:n.1681C>T
ENST00000646263.1:c.*796C>T ENSP00000494119.1:n.*796C>T
ENST00000646303.1:c.1791C>T ENSP00000494160.1:p.Asn597=
ENST00000646399.1:c.2817C>T
ENST00000646445.1:c.781C>T
ENST00000646531.1:c.*546C>T ENSP00000495185.1:n.*546C>T
ENST00000646589.1:c.*1051C>T ENSP00000494739.1:n.*1051C>T
ENST00000646716.1:c.975C>T ENSP00000495593.1:p.Asn325=
ENST00000646826.1:c.*596C>T ENSP00000495123.1:n.*596C>T
ENST00000646930.1:c.*1852C>T ENSP00000495219.1:n.*1852C>T
ENST00000647032.1:c.1538C>T
ENST00000647079.1:c.1515C>T ENSP00000495967.1:p.Asn505=
ENST00000647123.1:n.1880C>T
ENST00000647227.1:c.1561C>T
ENST00000647302.1:n.2573C>T
ENST00000647476.1:n.810C>T
ENST00000647491.1:n.1667C>T
XM_006721264.2:c.1923C>T XP_006721327.1:p.Asn641=
XM_006721264.4:c.1923C>T XP_006721327.1:p.Asn641=
XR_001751971.2:n.2272C>T
XR_001751972.2:n.3559C>T