Canonical Allele Identifier: CA346501192

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352018T>A (hg19) ; chr2:g.32126949T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126949T>A , CM000664.2:g.32126949T>A	GRCh38
NC_000002.11:g.32352018T>A , CM000664.1:g.32352018T>A	GRCh37
NC_000002.10:g.32205522T>A	NCBI36
NG_008730.1:g.68339T>A , LRG_714:g.68339T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*760T>A	ENSP00000515816.1:n.*760T>A
ENST00000315285.9:c.1100T>A MANE Select	ENSP00000320885.3:p.Leu367Ter
ENST00000621856.2:c.1097T>A	ENSP00000482496.2:p.Leu366Ter
ENST00000642281.1:c.983-9614T>A
ENST00000642455.1:c.1001T>A	ENSP00000493827.1:p.Leu334Ter
ENST00000642751.1:c.874T>A
ENST00000642999.1:c.842T>A	ENSP00000496589.1:p.Leu281Ter
ENST00000643327.1:c.259T>A
ENST00000643334.1:c.680T>A
ENST00000644408.1:c.976T>A
ENST00000644954.1:c.746T>A	ENSP00000494312.1:p.Leu249Ter
ENST00000645159.1:n.452T>A
ENST00000645550.1:n.313T>A
ENST00000645671.1:c.550T>A
ENST00000645730.1:c.447T>A
ENST00000646082.1:c.746T>A
ENST00000646571.1:c.1004T>A	ENSP00000495015.1:p.Leu335Ter
ENST00000647007.1:n.792T>A
ENST00000647133.1:c.674-1459T>A
ENST00000315285.7:c.1100T>A	ENSP00000320885.3:p.Leu367Ter
ENST00000345662.5:c.1004T>A	ENSP00000340817.1:p.Leu335Ter
ENST00000615843.4:c.1100T>A	ENSP00000480893.1:p.Leu367Ter
ENST00000621856.1:c.842T>A	ENSP00000482496.1:p.Leu281Ter
NM_014946.3:c.1100T>A , LRG_714t1:c.1100T>A	NP_055761.2:p.Leu367Ter
NM_199436.1:c.1004T>A	NP_955468.1:p.Leu335Ter
XM_005264516.3:c.1097T>A	XP_005264573.1:p.Leu366Ter
XM_011533067.1:c.1100T>A	XP_011531369.1:p.Leu367Ter
NM_001363823.1:c.1097T>A	NP_001350752.1:p.Leu366Ter
NM_001363875.1:c.1001T>A	NP_001350804.1:p.Leu334Ter
XM_005264516.5:c.1097T>A	XP_005264573.1:p.Leu366Ter
XM_011533067.2:c.1100T>A	XP_011531369.1:p.Leu367Ter
XM_017004778.2:c.1004T>A	XP_016860267.1:p.Leu335Ter
NM_001363823.2:c.1097T>A	NP_001350752.1:p.Leu366Ter
NM_001363875.2:c.1001T>A	NP_001350804.1:p.Leu334Ter
NM_001377959.1:c.1004T>A	NP_001364888.1:p.Leu335Ter
NM_014946.4:c.1100T>A MANE Select	NP_055761.2:p.Leu367Ter
NM_199436.2:c.1004T>A	NP_955468.1:p.Leu335Ter