Canonical Allele Identifier: CA346502480

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2816402
• ClinVar RCV Id: RCV003634715
• MyVariant Identifiers: chr2:g.32362225T>G (hg19) ; chr2:g.32137156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137156T>G , CM000664.2:g.32137156T>G	GRCh38
NC_000002.11:g.32362225T>G , CM000664.1:g.32362225T>G	GRCh37
NC_000002.10:g.32215729T>G	NCBI36
NG_008730.1:g.78546T>G , LRG_714:g.78546T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1121T>G	ENSP00000515816.1:n.*1121T>G
ENST00000315285.9:c.1461T>G MANE Select	ENSP00000320885.3:p.Asn487Lys
ENST00000621856.2:c.1458T>G	ENSP00000482496.2:p.Asn486Lys
ENST00000642281.1:c.1198T>G
ENST00000642455.1:c.1362T>G	ENSP00000493827.1:p.Asn454Lys
ENST00000642751.1:c.1235T>G
ENST00000642999.1:c.1203T>G	ENSP00000496589.1:p.Asn401Lys
ENST00000643327.1:c.528T>G
ENST00000643334.1:c.1041T>G
ENST00000644408.1:c.1337T>G
ENST00000644954.1:c.1107T>G	ENSP00000494312.1:p.Asn369Lys
ENST00000645159.1:n.2198T>G
ENST00000645671.1:c.911T>G
ENST00000645730.1:c.640T>G
ENST00000646082.1:c.1107T>G
ENST00000646571.1:c.1365T>G	ENSP00000495015.1:p.Asn455Lys
ENST00000647007.1:n.1153T>G
ENST00000647133.1:c.961T>G
ENST00000315285.7:c.1461T>G	ENSP00000320885.3:p.Asn487Lys
ENST00000345662.5:c.1365T>G	ENSP00000340817.1:p.Asn455Lys
ENST00000615843.4:c.1461T>G	ENSP00000480893.1:p.Asn487Lys
ENST00000621856.1:c.1203T>G	ENSP00000482496.1:p.Asn401Lys
NM_014946.3:c.1461T>G , LRG_714t1:c.1461T>G	NP_055761.2:p.Asn487Lys
NM_199436.1:c.1365T>G	NP_955468.1:p.Asn455Lys
XM_005264516.3:c.1458T>G	XP_005264573.1:p.Asn486Lys
XM_011533067.1:c.1461T>G	XP_011531369.1:p.Asn487Lys
NM_001363823.1:c.1458T>G	NP_001350752.1:p.Asn486Lys
NM_001363875.1:c.1362T>G	NP_001350804.1:p.Asn454Lys
XM_005264516.5:c.1458T>G	XP_005264573.1:p.Asn486Lys
XM_011533067.2:c.1461T>G	XP_011531369.1:p.Asn487Lys
XM_017004778.2:c.1365T>G	XP_016860267.1:p.Asn455Lys
NM_001363823.2:c.1458T>G	NP_001350752.1:p.Asn486Lys
NM_001363875.2:c.1362T>G	NP_001350804.1:p.Asn454Lys
NM_001377959.1:c.1365T>G	NP_001364888.1:p.Asn455Lys
NM_014946.4:c.1461T>G MANE Select	NP_055761.2:p.Asn487Lys
NM_199436.2:c.1365T>G	NP_955468.1:p.Asn455Lys