Canonical Allele Identifier: CA346501322

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352078G>T (hg19) ; chr2:g.32127009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127009G>T , CM000664.2:g.32127009G>T	GRCh38
NC_000002.11:g.32352078G>T , CM000664.1:g.32352078G>T	GRCh37
NC_000002.10:g.32205582G>T	NCBI36
NG_008730.1:g.68399G>T , LRG_714:g.68399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*820G>T	ENSP00000515816.1:n.*820G>T
ENST00000315285.9:c.1160G>T MANE Select	ENSP00000320885.3:p.Gly387Val
ENST00000621856.2:c.1157G>T	ENSP00000482496.2:p.Gly386Val
ENST00000642281.1:c.983-9554G>T
ENST00000642455.1:c.1061G>T	ENSP00000493827.1:p.Gly354Val
ENST00000642751.1:c.934G>T
ENST00000642999.1:c.902G>T	ENSP00000496589.1:p.Gly301Val
ENST00000643327.1:c.319G>T
ENST00000643334.1:c.740G>T
ENST00000644408.1:c.1036G>T
ENST00000644954.1:c.806G>T	ENSP00000494312.1:p.Gly269Val
ENST00000645159.1:n.512G>T
ENST00000645550.1:n.373G>T
ENST00000645671.1:c.610G>T
ENST00000645730.1:c.507G>T
ENST00000646082.1:c.806G>T
ENST00000646571.1:c.1064G>T	ENSP00000495015.1:p.Gly355Val
ENST00000647007.1:n.852G>T
ENST00000647133.1:c.674-1399G>T
ENST00000315285.7:c.1160G>T	ENSP00000320885.3:p.Gly387Val
ENST00000345662.5:c.1064G>T	ENSP00000340817.1:p.Gly355Val
ENST00000615843.4:c.1160G>T	ENSP00000480893.1:p.Gly387Val
ENST00000621856.1:c.902G>T	ENSP00000482496.1:p.Gly301Val
NM_014946.3:c.1160G>T , LRG_714t1:c.1160G>T	NP_055761.2:p.Gly387Val
NM_199436.1:c.1064G>T	NP_955468.1:p.Gly355Val
XM_005264516.3:c.1157G>T	XP_005264573.1:p.Gly386Val
XM_011533067.1:c.1160G>T	XP_011531369.1:p.Gly387Val
NM_001363823.1:c.1157G>T	NP_001350752.1:p.Gly386Val
NM_001363875.1:c.1061G>T	NP_001350804.1:p.Gly354Val
XM_005264516.5:c.1157G>T	XP_005264573.1:p.Gly386Val
XM_011533067.2:c.1160G>T	XP_011531369.1:p.Gly387Val
XM_017004778.2:c.1064G>T	XP_016860267.1:p.Gly355Val
NM_001363823.2:c.1157G>T	NP_001350752.1:p.Gly386Val
NM_001363875.2:c.1061G>T	NP_001350804.1:p.Gly354Val
NM_001377959.1:c.1064G>T	NP_001364888.1:p.Gly355Val
NM_014946.4:c.1160G>T MANE Select	NP_055761.2:p.Gly387Val
NM_199436.2:c.1064G>T	NP_955468.1:p.Gly355Val