Canonical Allele Identifier: CA8243924
Community Standard Title: NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89531964C>A , CM000678.2:g.89531964C>A GRCh38
NC_000016.9:g.89598372C>A , CM000678.1:g.89598372C>A GRCh37
NC_000016.8:g.88125873C>A NCBI36
NG_008082.1:g.28568C>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1048C>A MANE Select NP_003110.1:p.Pro350Thr
ENST00000645818.2:c.1048C>A MANE Select ENSP00000495795.2:p.Pro350Thr
NM_001363850.1:c.1048C>A NP_001350779.1:p.Pro350Thr
NM_003119.3:c.1048C>A NP_003110.1:p.Pro350Thr
NM_199367.2:c.1048C>A NP_955399.1:p.Pro350Thr
NM_199367.3:c.1048C>A NP_955399.1:p.Pro350Thr
ENST00000268704.6:c.1048C>A ENSP00000268704.2:p.Pro350Thr
ENST00000268704.7:c.1027C>A ENSP00000268704.3:p.Pro343Thr
ENST00000341316.6:c.1048C>A ENSP00000341157.2:p.Pro350Thr
ENST00000561945.1:n.92C>A
ENST00000561945.2:n.193C>A
ENST00000564409.1:n.507C>A
ENST00000564409.2:c.1104C>A ENSP00000495297.1:n.1104C>A
ENST00000566682.2:c.61C>A ENSP00000461979.2:p.Pro21Thr
ENST00000620811.4:c.-529C>A ENSP00000478030.1:n.-529C>A
ENST00000642334.1:c.921C>A
ENST00000642371.1:c.1127C>A
ENST00000642427.1:n.448C>A
ENST00000642436.1:n.389-8980C>A
ENST00000643105.1:c.968C>A
ENST00000643178.1:n.593C>A
ENST00000643307.1:c.1048C>A ENSP00000495673.1:p.Pro350Thr
ENST00000643345.1:c.*572C>A ENSP00000493982.1:n.*572C>A
ENST00000643370.1:c.325-499C>A ENSP00000494895.1:n.325-499C>A
ENST00000643496.1:n.865C>A
ENST00000643649.1:c.1048C>A ENSP00000494806.1:p.Pro350Thr
ENST00000643668.1:c.*1342C>A ENSP00000494903.1:n.*1342C>A
ENST00000643724.1:c.*497+1156C>A ENSP00000496335.1:n.*497+1156C>A
ENST00000643954.1:c.786C>A
ENST00000644171.1:n.1022C>A
ENST00000644210.1:c.1048C>A ENSP00000495675.1:p.Pro350Thr
ENST00000644225.1:n.1065C>A
ENST00000644498.1:c.1027C>A ENSP00000496244.1:p.Pro343Thr
ENST00000644671.1:c.705C>A
ENST00000644748.1:n.2479C>A
ENST00000644751.1:c.450C>A
ENST00000644781.1:c.1048C>A ENSP00000495473.1:p.Pro350Thr
ENST00000644901.1:c.*1001C>A ENSP00000493797.1:n.*1001C>A
ENST00000645042.1:c.1048C>A ENSP00000493908.1:p.Pro350Thr
ENST00000645063.1:c.1048C>A ENSP00000493590.1:p.Pro350Thr
ENST00000645354.1:c.1808C>A
ENST00000645533.1:c.*177C>A ENSP00000495690.1:n.*177C>A
ENST00000645886.1:c.275C>A
ENST00000645897.1:c.987+1156C>A ENSP00000495293.1:n.987+1156C>A
ENST00000645977.1:n.2166C>A
ENST00000646263.1:c.1048C>A ENSP00000494119.1:p.Pro350Thr
ENST00000646303.1:c.916C>A ENSP00000494160.1:p.Pro306Thr
ENST00000646399.1:c.731C>A
ENST00000646445.1:c.183-12684C>A
ENST00000646454.1:n.710+1007C>A
ENST00000646531.1:c.1048C>A ENSP00000495185.1:p.Pro350Thr
ENST00000646589.1:c.*176C>A ENSP00000494739.1:n.*176C>A
ENST00000646716.1:c.377-12684C>A ENSP00000495593.1:n.377-12684C>A
ENST00000646826.1:c.1048C>A ENSP00000495123.1:p.Pro350Thr
ENST00000646930.1:c.1048C>A ENSP00000495219.1:p.Pro350Thr
ENST00000646958.1:n.2093C>A
ENST00000647032.1:c.663C>A
ENST00000647079.1:c.640C>A ENSP00000495967.1:p.Pro214Thr
ENST00000647227.1:c.811C>A
XM_005256321.3:c.1048C>A XP_005256378.1:p.Pro350Thr
XM_005256321.4:c.1048C>A XP_005256378.1:p.Pro350Thr
XM_006721264.2:c.1048C>A XP_006721327.1:p.Pro350Thr
XM_006721264.4:c.1048C>A XP_006721327.1:p.Pro350Thr
XM_011523306.1:c.1048C>A XP_011521608.1:p.Pro350Thr
XM_011523307.1:c.1048C>A XP_011521609.1:p.Pro350Thr
XM_017023597.1:c.1048C>A XP_016879086.1:p.Pro350Thr
XM_017023598.1:c.1048C>A XP_016879087.1:p.Pro350Thr
XR_001751971.2:n.1087C>A
XR_001751972.2:n.1087C>A