Canonical Allele Identifier: CA346501203

Gene: SPAST

Linked Data

• gnomAD v4: 2-32126953-C-A
• MyVariant Identifiers: chr2:g.32352022C>A (hg19) ; chr2:g.32126953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126953C>A , CM000664.2:g.32126953C>A	GRCh38
NC_000002.11:g.32352022C>A , CM000664.1:g.32352022C>A	GRCh37
NC_000002.10:g.32205526C>A	NCBI36
NG_008730.1:g.68343C>A , LRG_714:g.68343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*764C>A	ENSP00000515816.1:n.*764C>A
ENST00000315285.9:c.1104C>A MANE Select	ENSP00000320885.3:p.Phe368Leu
ENST00000621856.2:c.1101C>A	ENSP00000482496.2:p.Phe367Leu
ENST00000642281.1:c.983-9610C>A
ENST00000642455.1:c.1005C>A	ENSP00000493827.1:p.Phe335Leu
ENST00000642751.1:c.878C>A
ENST00000642999.1:c.846C>A	ENSP00000496589.1:p.Phe282Leu
ENST00000643327.1:c.263C>A
ENST00000643334.1:c.684C>A
ENST00000644408.1:c.980C>A
ENST00000644954.1:c.750C>A	ENSP00000494312.1:p.Phe250Leu
ENST00000645159.1:n.456C>A
ENST00000645550.1:n.317C>A
ENST00000645671.1:c.554C>A
ENST00000645730.1:c.451C>A
ENST00000646082.1:c.750C>A
ENST00000646571.1:c.1008C>A	ENSP00000495015.1:p.Phe336Leu
ENST00000647007.1:n.796C>A
ENST00000647133.1:c.674-1455C>A
ENST00000315285.7:c.1104C>A	ENSP00000320885.3:p.Phe368Leu
ENST00000345662.5:c.1008C>A	ENSP00000340817.1:p.Phe336Leu
ENST00000615843.4:c.1104C>A	ENSP00000480893.1:p.Phe368Leu
ENST00000621856.1:c.846C>A	ENSP00000482496.1:p.Phe282Leu
NM_014946.3:c.1104C>A , LRG_714t1:c.1104C>A	NP_055761.2:p.Phe368Leu
NM_199436.1:c.1008C>A	NP_955468.1:p.Phe336Leu
XM_005264516.3:c.1101C>A	XP_005264573.1:p.Phe367Leu
XM_011533067.1:c.1104C>A	XP_011531369.1:p.Phe368Leu
NM_001363823.1:c.1101C>A	NP_001350752.1:p.Phe367Leu
NM_001363875.1:c.1005C>A	NP_001350804.1:p.Phe335Leu
XM_005264516.5:c.1101C>A	XP_005264573.1:p.Phe367Leu
XM_011533067.2:c.1104C>A	XP_011531369.1:p.Phe368Leu
XM_017004778.2:c.1008C>A	XP_016860267.1:p.Phe336Leu
NM_001363823.2:c.1101C>A	NP_001350752.1:p.Phe367Leu
NM_001363875.2:c.1005C>A	NP_001350804.1:p.Phe335Leu
NM_001377959.1:c.1008C>A	NP_001364888.1:p.Phe336Leu
NM_014946.4:c.1104C>A MANE Select	NP_055761.2:p.Phe368Leu
NM_199436.2:c.1008C>A	NP_955468.1:p.Phe336Leu