Canonical Allele Identifier: CA397427369
Community Standard Title: NM_003119.4(SPG7):c.1553-2A>G
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89548001A>G , CM000678.2:g.89548001A>G GRCh38
NC_000016.9:g.89614409A>G , CM000678.1:g.89614409A>G GRCh37
NC_000016.8:g.88141910A>G NCBI36
NG_008082.1:g.44605A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1553-2A>G MANE Select NP_003110.1:n.1553-2A>G
ENST00000645818.2:c.1553-2A>G MANE Select ENSP00000495795.2:n.1553-2A>G
NM_001363850.1:c.1553-2A>G NP_001350779.1:n.1553-2A>G
NM_003119.3:c.1553-2A>G NP_003110.1:n.1553-2A>G
ENST00000268704.6:c.1553-2A>G ENSP00000268704.2:n.1553-2A>G
ENST00000268704.7:c.1532-2A>G ENSP00000268704.3:n.1532-2A>G
ENST00000561911.5:c.98-2A>G ENSP00000457387.1:n.98-2A>G
ENST00000563218.5:n.279-2A>G
ENST00000563218.6:n.612-2A>G
ENST00000566221.5:c.151-2A>G
ENST00000566682.2:c.566-2A>G ENSP00000461979.2:n.566-2A>G
ENST00000569820.5:c.438-2A>G
ENST00000569820.6:c.539-2A>G
ENST00000620811.4:c.-24-2A>G ENSP00000478030.1:n.-24-2A>G
ENST00000642226.1:n.1402-2A>G
ENST00000642334.1:c.2971-2A>G
ENST00000642427.1:n.953-2A>G
ENST00000642814.1:n.968-2A>G
ENST00000642984.1:n.1149-2A>G
ENST00000643105.1:c.2259-2A>G
ENST00000643350.1:n.610-2A>G
ENST00000643409.1:n.1978-2A>G
ENST00000643496.1:n.1370-2A>G
ENST00000643649.1:c.1552+1241A>G ENSP00000494806.1:n.1552+1241A>G
ENST00000643668.1:c.*1847-2A>G ENSP00000494903.1:n.*1847-2A>G
ENST00000643724.1:c.*601-2A>G ENSP00000496335.1:n.*601-2A>G
ENST00000643734.1:n.4466-2A>G
ENST00000643954.1:c.2452-2A>G
ENST00000644061.1:n.511-2A>G
ENST00000644171.1:n.2313-2A>G
ENST00000644210.1:c.*125-2A>G ENSP00000495675.1:n.*125-2A>G
ENST00000644225.1:n.1570-2A>G
ENST00000644464.1:n.206-2A>G
ENST00000644498.1:c.*1372-2A>G ENSP00000496244.1:n.*1372-2A>G
ENST00000644556.1:n.261-301A>G
ENST00000644671.1:c.1210-2A>G
ENST00000644748.1:n.6109A>G
ENST00000644751.1:c.852-2493A>G
ENST00000644781.1:c.1553-2A>G ENSP00000495473.1:n.1553-2A>G
ENST00000644901.1:c.*1947-2A>G ENSP00000493797.1:n.*1947-2A>G
ENST00000644930.1:n.2679-2A>G
ENST00000645042.1:c.*327-2A>G ENSP00000493908.1:n.*327-2A>G
ENST00000645063.1:c.1553-2A>G ENSP00000493590.1:n.1553-2A>G
ENST00000645354.1:c.2313-2A>G
ENST00000645392.1:n.1894-2A>G
ENST00000645742.1:n.187-2A>G
ENST00000645842.1:n.1398-2A>G
ENST00000645886.1:c.1058-2A>G
ENST00000645897.1:c.1091-2A>G ENSP00000495293.1:n.1091-2A>G
ENST00000645944.1:n.1327-2A>G
ENST00000645952.1:n.1418-2A>G
ENST00000645977.1:n.2671-2A>G
ENST00000646005.1:n.1311-2A>G
ENST00000646263.1:c.*426-2A>G ENSP00000494119.1:n.*426-2A>G
ENST00000646303.1:c.1421-2A>G ENSP00000494160.1:n.1421-2A>G
ENST00000646399.1:c.2447-2A>G
ENST00000646445.1:c.411-2A>G
ENST00000646454.1:n.814-2A>G
ENST00000646531.1:c.*176-2A>G ENSP00000495185.1:n.*176-2A>G
ENST00000646543.1:n.2307-2A>G
ENST00000646589.1:c.*681-2A>G ENSP00000494739.1:n.*681-2A>G
ENST00000646716.1:c.605-2A>G ENSP00000495593.1:n.605-2A>G
ENST00000646826.1:c.*226-2A>G ENSP00000495123.1:n.*226-2A>G
ENST00000646930.1:c.*1482-2A>G ENSP00000495219.1:n.*1482-2A>G
ENST00000646958.1:n.2598-2A>G
ENST00000647032.1:c.1168-2A>G
ENST00000647079.1:c.1145-2A>G ENSP00000495967.1:n.1145-2A>G
ENST00000647123.1:n.1510-2A>G
ENST00000647227.1:c.1191-2A>G
ENST00000647302.1:n.2203-2A>G
ENST00000647491.1:n.1297-2A>G
XM_006721264.2:c.1553-2A>G XP_006721327.1:n.1553-2A>G
XM_006721264.4:c.1553-2A>G XP_006721327.1:n.1553-2A>G
XM_017023597.1:c.1553-2A>G XP_016879086.1:n.1553-2A>G
XM_017023598.1:c.1553-2A>G XP_016879087.1:n.1553-2A>G
XR_001751971.2:n.1902-2A>G
XR_001751972.2:n.1902-2A>G