Canonical Allele Identifier: CA8244236
Community Standard Title: NM_003119.4(SPG7):c.1552+1G>T
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89546761G>T , CM000678.2:g.89546761G>T GRCh38
NC_000016.9:g.89613169G>T , CM000678.1:g.89613169G>T GRCh37
NC_000016.8:g.88140670G>T NCBI36
NG_008082.1:g.43365G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1552+1G>T MANE Select NP_003110.1:n.1552+1G>T
ENST00000645818.2:c.1552+1G>T MANE Select ENSP00000495795.2:n.1552+1G>T
NM_001363850.1:c.1552+1G>T NP_001350779.1:n.1552+1G>T
NM_003119.3:c.1552+1G>T NP_003110.1:n.1552+1G>T
ENST00000268704.6:c.1552+1G>T ENSP00000268704.2:n.1552+1G>T
ENST00000268704.7:c.1531+1G>T ENSP00000268704.3:n.1531+1G>T
ENST00000561911.5:c.97+1G>T ENSP00000457387.1:n.97+1G>T
ENST00000563218.5:n.278+1G>T
ENST00000563218.6:n.611+1G>T
ENST00000566221.5:c.150+1G>T
ENST00000566682.2:c.565+1G>T ENSP00000461979.2:n.565+1G>T
ENST00000569820.5:c.437+1G>T
ENST00000569820.6:c.538+1G>T
ENST00000620811.4:c.-25+1G>T ENSP00000478030.1:n.-25+1G>T
ENST00000642226.1:n.1401+1G>T
ENST00000642263.1:n.304G>T
ENST00000642334.1:c.2970+1G>T
ENST00000642427.1:n.952+1G>T
ENST00000642814.1:n.967+1G>T
ENST00000642984.1:n.1148+1G>T
ENST00000643105.1:c.2258+1G>T
ENST00000643350.1:n.609+1G>T
ENST00000643409.1:n.1977+1G>T
ENST00000643496.1:n.1369+1G>T
ENST00000643649.1:c.1552+1G>T ENSP00000494806.1:n.1552+1G>T
ENST00000643668.1:c.*1846+1G>T ENSP00000494903.1:n.*1846+1G>T
ENST00000643724.1:c.*600+1G>T ENSP00000496335.1:n.*600+1G>T
ENST00000643734.1:n.4465+1G>T
ENST00000643954.1:c.2451+1G>T
ENST00000644061.1:n.510+1G>T
ENST00000644171.1:n.2312+1G>T
ENST00000644210.1:c.*124+1G>T ENSP00000495675.1:n.*124+1G>T
ENST00000644225.1:n.1569+1G>T
ENST00000644464.1:n.205+1G>T
ENST00000644498.1:c.*1371+1G>T ENSP00000496244.1:n.*1371+1G>T
ENST00000644556.1:n.261-1541G>T
ENST00000644671.1:c.1209+1G>T
ENST00000644748.1:n.4869G>T
ENST00000644751.1:c.851+1989G>T
ENST00000644781.1:c.1552+1G>T ENSP00000495473.1:n.1552+1G>T
ENST00000644901.1:c.*1946+1G>T ENSP00000493797.1:n.*1946+1G>T
ENST00000644930.1:n.2678+1G>T
ENST00000645042.1:c.*326+1G>T ENSP00000493908.1:n.*326+1G>T
ENST00000645063.1:c.1552+1G>T ENSP00000493590.1:n.1552+1G>T
ENST00000645354.1:c.2312+1G>T
ENST00000645392.1:n.1893+1G>T
ENST00000645742.1:n.186+1G>T
ENST00000645842.1:n.1397+1G>T
ENST00000645886.1:c.1057+1G>T
ENST00000645897.1:c.1090+1G>T ENSP00000495293.1:n.1090+1G>T
ENST00000645944.1:n.1326+1G>T
ENST00000645952.1:n.1417+1G>T
ENST00000645977.1:n.2670+1G>T
ENST00000646005.1:n.1310+1G>T
ENST00000646263.1:c.*425+1G>T ENSP00000494119.1:n.*425+1G>T
ENST00000646303.1:c.1420+1G>T ENSP00000494160.1:n.1420+1G>T
ENST00000646399.1:c.2446+1G>T
ENST00000646445.1:c.410+1G>T
ENST00000646454.1:n.813+1G>T
ENST00000646531.1:c.*175+1G>T ENSP00000495185.1:n.*175+1G>T
ENST00000646543.1:n.2306+1G>T
ENST00000646589.1:c.*680+1G>T ENSP00000494739.1:n.*680+1G>T
ENST00000646716.1:c.604+1G>T ENSP00000495593.1:n.604+1G>T
ENST00000646826.1:c.*225+1G>T ENSP00000495123.1:n.*225+1G>T
ENST00000646930.1:c.*1481+1G>T ENSP00000495219.1:n.*1481+1G>T
ENST00000646958.1:n.2597+1G>T
ENST00000647032.1:c.1167+1G>T
ENST00000647079.1:c.1144+1G>T ENSP00000495967.1:n.1144+1G>T
ENST00000647123.1:n.1509+1G>T
ENST00000647227.1:c.1190+1G>T
ENST00000647302.1:n.2202+1G>T
ENST00000647491.1:n.1296+1G>T
XM_006721264.2:c.1552+1G>T XP_006721327.1:n.1552+1G>T
XM_006721264.4:c.1552+1G>T XP_006721327.1:n.1552+1G>T
XM_017023597.1:c.1552+1G>T XP_016879086.1:n.1552+1G>T
XM_017023598.1:c.1552+1G>T XP_016879087.1:n.1552+1G>T
XR_001751971.2:n.1901+1G>T
XR_001751972.2:n.1901+1G>T