Canonical Allele Identifier: CA346501310

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352074A>T (hg19) ; chr2:g.32127005A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127005A>T , CM000664.2:g.32127005A>T	GRCh38
NC_000002.11:g.32352074A>T , CM000664.1:g.32352074A>T	GRCh37
NC_000002.10:g.32205578A>T	NCBI36
NG_008730.1:g.68395A>T , LRG_714:g.68395A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*816A>T	ENSP00000515816.1:n.*816A>T
ENST00000315285.9:c.1156A>T MANE Select	ENSP00000320885.3:p.Asn386Tyr
ENST00000621856.2:c.1153A>T	ENSP00000482496.2:p.Asn385Tyr
ENST00000642281.1:c.983-9558A>T
ENST00000642455.1:c.1057A>T	ENSP00000493827.1:p.Asn353Tyr
ENST00000642751.1:c.930A>T
ENST00000642999.1:c.898A>T	ENSP00000496589.1:p.Asn300Tyr
ENST00000643327.1:c.315A>T
ENST00000643334.1:c.736A>T
ENST00000644408.1:c.1032A>T
ENST00000644954.1:c.802A>T	ENSP00000494312.1:p.Asn268Tyr
ENST00000645159.1:n.508A>T
ENST00000645550.1:n.369A>T
ENST00000645671.1:c.606A>T
ENST00000645730.1:c.503A>T
ENST00000646082.1:c.802A>T
ENST00000646571.1:c.1060A>T	ENSP00000495015.1:p.Asn354Tyr
ENST00000647007.1:n.848A>T
ENST00000647133.1:c.674-1403A>T
ENST00000315285.7:c.1156A>T	ENSP00000320885.3:p.Asn386Tyr
ENST00000345662.5:c.1060A>T	ENSP00000340817.1:p.Asn354Tyr
ENST00000615843.4:c.1156A>T	ENSP00000480893.1:p.Asn386Tyr
ENST00000621856.1:c.898A>T	ENSP00000482496.1:p.Asn300Tyr
NM_014946.3:c.1156A>T , LRG_714t1:c.1156A>T	NP_055761.2:p.Asn386Tyr
NM_199436.1:c.1060A>T	NP_955468.1:p.Asn354Tyr
XM_005264516.3:c.1153A>T	XP_005264573.1:p.Asn385Tyr
XM_011533067.1:c.1156A>T	XP_011531369.1:p.Asn386Tyr
NM_001363823.1:c.1153A>T	NP_001350752.1:p.Asn385Tyr
NM_001363875.1:c.1057A>T	NP_001350804.1:p.Asn353Tyr
XM_005264516.5:c.1153A>T	XP_005264573.1:p.Asn385Tyr
XM_011533067.2:c.1156A>T	XP_011531369.1:p.Asn386Tyr
XM_017004778.2:c.1060A>T	XP_016860267.1:p.Asn354Tyr
NM_001363823.2:c.1153A>T	NP_001350752.1:p.Asn385Tyr
NM_001363875.2:c.1057A>T	NP_001350804.1:p.Asn353Tyr
NM_001377959.1:c.1060A>T	NP_001364888.1:p.Asn354Tyr
NM_014946.4:c.1156A>T MANE Select	NP_055761.2:p.Asn386Tyr
NM_199436.2:c.1060A>T	NP_955468.1:p.Asn354Tyr