Canonical Allele Identifier: CA346501483

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2008082
• ClinVar RCV Id: RCV002833602 ; RCV003418617
• MyVariant Identifiers: chr2:g.32353532G>T (hg19) ; chr2:g.32128463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128463G>T , CM000664.2:g.32128463G>T	GRCh38
NC_000002.11:g.32353532G>T , CM000664.1:g.32353532G>T	GRCh37
NC_000002.10:g.32207036G>T	NCBI36
NG_008730.1:g.69853G>T , LRG_714:g.69853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*889G>T	ENSP00000515816.1:n.*889G>T
ENST00000315285.9:c.1229G>T MANE Select	ENSP00000320885.3:p.Ser410Ile
ENST00000621856.2:c.1226G>T	ENSP00000482496.2:p.Ser409Ile
ENST00000642281.1:c.983-8100G>T
ENST00000642455.1:c.1130G>T	ENSP00000493827.1:p.Ser377Ile
ENST00000642751.1:c.1003G>T
ENST00000642999.1:c.971G>T	ENSP00000496589.1:p.Ser324Ile
ENST00000643327.1:c.388G>T
ENST00000643334.1:c.809G>T
ENST00000644408.1:c.1105G>T
ENST00000644954.1:c.875G>T	ENSP00000494312.1:p.Ser292Ile
ENST00000645159.1:n.1966G>T
ENST00000645550.1:n.442G>T
ENST00000645671.1:c.679G>T
ENST00000645730.1:c.576G>T
ENST00000646082.1:c.875G>T
ENST00000646571.1:c.1133G>T	ENSP00000495015.1:p.Ser378Ile
ENST00000647007.1:n.921G>T
ENST00000647133.1:c.729G>T
ENST00000315285.7:c.1229G>T	ENSP00000320885.3:p.Ser410Ile
ENST00000345662.5:c.1133G>T	ENSP00000340817.1:p.Ser378Ile
ENST00000615843.4:c.1229G>T	ENSP00000480893.1:p.Ser410Ile
ENST00000621856.1:c.971G>T	ENSP00000482496.1:p.Ser324Ile
NM_014946.3:c.1229G>T , LRG_714t1:c.1229G>T	NP_055761.2:p.Ser410Ile
NM_199436.1:c.1133G>T	NP_955468.1:p.Ser378Ile
XM_005264516.3:c.1226G>T	XP_005264573.1:p.Ser409Ile
XM_011533067.1:c.1229G>T	XP_011531369.1:p.Ser410Ile
NM_001363823.1:c.1226G>T	NP_001350752.1:p.Ser409Ile
NM_001363875.1:c.1130G>T	NP_001350804.1:p.Ser377Ile
XM_005264516.5:c.1226G>T	XP_005264573.1:p.Ser409Ile
XM_011533067.2:c.1229G>T	XP_011531369.1:p.Ser410Ile
XM_017004778.2:c.1133G>T	XP_016860267.1:p.Ser378Ile
NM_001363823.2:c.1226G>T	NP_001350752.1:p.Ser409Ile
NM_001363875.2:c.1130G>T	NP_001350804.1:p.Ser377Ile
NM_001377959.1:c.1133G>T	NP_001364888.1:p.Ser378Ile
NM_014946.4:c.1229G>T MANE Select	NP_055761.2:p.Ser410Ile
NM_199436.2:c.1133G>T	NP_955468.1:p.Ser378Ile