Canonical Allele Identifier: CA2573051940

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1344056
• ClinVar RCV Id: RCV001848159
• dbSNP Id: rs2148762766

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147219_32147220insACTAAAACC , CM000664.2:g.32147219_32147220insACTAAAACC	GRCh38
NC_000002.11:g.32372288_32372289insACTAAAACC , CM000664.1:g.32372288_32372289insACTAAAACC	GRCh37
NC_000002.10:g.32225792_32225793insACTAAAACC	NCBI36
NG_008730.1:g.88609_88610insACTAAAACC , LRG_714:g.88609_88610insACTAAAACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1349_*1350insACTAAAACC	ENSP00000515816.1:n.*1349_*1350insACTAAAA...
ENST00000315285.9:c.1689_1690insACTAAAACC MANE Select	ENSP00000320885.3:p.Glu563_Leu564insThrLy...
ENST00000621856.2:c.1686_1687insACTAAAACC	ENSP00000482496.2:p.Glu562_Leu563insThrLy...
ENST00000642281.1:c.1426_1427insACTAAAACC
ENST00000642455.1:c.1590_1591insACTAAAACC	ENSP00000493827.1:p.Glu530_Leu531insThrLy...
ENST00000642751.1:c.1392_1393insACTAAAACC
ENST00000642999.1:c.1431_1432insACTAAAACC	ENSP00000496589.1:p.Glu477_Leu478insThrLy...
ENST00000643334.1:c.1269_1270insACTAAAACC
ENST00000644408.1:c.1588_1589insACTAAAACC
ENST00000644954.1:c.1335_1336insACTAAAACC	ENSP00000494312.1:p.Glu445_Leu446insThrLy...
ENST00000645159.1:n.2426_2427insACTAAAACC
ENST00000645671.1:c.1068_1069insACTAAAACC
ENST00000645730.1:c.868_869insACTAAAACC
ENST00000646082.1:c.1335_1336insACTAAAACC
ENST00000646571.1:c.1593_1594insACTAAAACC	ENSP00000495015.1:p.Glu531_Leu532insThrLy...
ENST00000647007.1:n.1381_1382insACTAAAACC
ENST00000647133.1:c.1189_1190insACTAAAACC
ENST00000315285.7:c.1689_1690insACTAAAACC	ENSP00000320885.3:p.Glu563_Leu564insThrLy...
ENST00000345662.5:c.1593_1594insACTAAAACC	ENSP00000340817.1:p.Glu531_Leu532insThrLy...
ENST00000615843.4:c.1689_1690insACTAAAACC	ENSP00000480893.1:p.Glu563_Leu564insThrLy...
ENST00000621856.1:c.1431_1432insACTAAAACC	ENSP00000482496.1:p.Glu477_Leu478insThrLy...
NM_014946.3:c.1689_1690insACTAAAACC , LRG_714t1:c.1689_1690insACTAAAACC	NP_055761.2:p.Glu563_Leu564insThrLysThr
NM_199436.1:c.1593_1594insACTAAAACC	NP_955468.1:p.Glu531_Leu532insThrLysThr
XM_005264516.3:c.1686_1687insACTAAAACC	XP_005264573.1:p.Glu562_Leu563insThrLysTh...
XM_011533067.1:c.1618_1619insACTAAAACC	XP_011531369.1:p.Thr540AsnfsTer2
NM_001363823.1:c.1686_1687insACTAAAACC	NP_001350752.1:p.Glu562_Leu563insThrLysTh...
NM_001363875.1:c.1590_1591insACTAAAACC	NP_001350804.1:p.Glu530_Leu531insThrLysTh...
XM_005264516.5:c.1686_1687insACTAAAACC	XP_005264573.1:p.Glu562_Leu563insThrLysTh...
XM_011533067.2:c.1618_1619insACTAAAACC	XP_011531369.1:p.Thr540AsnfsTer2
XM_017004778.2:c.1522_1523insACTAAAACC	XP_016860267.1:p.Thr508AsnfsTer2
NM_001363823.2:c.1686_1687insACTAAAACC	NP_001350752.1:p.Glu562_Leu563insThrLysTh...
NM_001363875.2:c.1590_1591insACTAAAACC	NP_001350804.1:p.Glu530_Leu531insThrLysTh...
NM_001377959.1:c.1522_1523insACTAAAACC	NP_001364888.1:p.Thr508AsnfsTer2
NM_014946.4:c.1689_1690insACTAAAACC MANE Select	NP_055761.2:p.Glu563_Leu564insThrLysThr
NM_199436.2:c.1593_1594insACTAAAACC	NP_955468.1:p.Glu531_Leu532insThrLysThr