Canonical Allele Identifier: CA346502068

Gene: SPAST

Linked Data

• gnomAD v4: 2-32136602-G-T
• MyVariant Identifiers: chr2:g.32361671G>T (hg19) ; chr2:g.32136602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136602G>T , CM000664.2:g.32136602G>T	GRCh38
NC_000002.11:g.32361671G>T , CM000664.1:g.32361671G>T	GRCh37
NC_000002.10:g.32215175G>T	NCBI36
NG_008730.1:g.77992G>T , LRG_714:g.77992G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*945G>T	ENSP00000515816.1:n.*945G>T
ENST00000315285.9:c.1285G>T MANE Select	ENSP00000320885.3:p.Val429Leu
ENST00000621856.2:c.1282G>T	ENSP00000482496.2:p.Val428Leu
ENST00000642281.1:c.1022G>T
ENST00000642455.1:c.1186G>T	ENSP00000493827.1:p.Val396Leu
ENST00000642751.1:c.1059G>T
ENST00000642999.1:c.1027G>T	ENSP00000496589.1:p.Val343Leu
ENST00000643327.1:c.444G>T
ENST00000643334.1:c.865G>T
ENST00000644408.1:c.1161G>T
ENST00000644954.1:c.931G>T	ENSP00000494312.1:p.Val311Leu
ENST00000645159.1:n.2022G>T
ENST00000645671.1:c.735G>T
ENST00000645730.1:c.593-507G>T
ENST00000646082.1:c.931G>T
ENST00000646571.1:c.1189G>T	ENSP00000495015.1:p.Val397Leu
ENST00000647007.1:n.977G>T
ENST00000647133.1:c.785G>T
ENST00000315285.7:c.1285G>T	ENSP00000320885.3:p.Val429Leu
ENST00000345662.5:c.1189G>T	ENSP00000340817.1:p.Val397Leu
ENST00000615843.4:c.1285G>T	ENSP00000480893.1:p.Val429Leu
ENST00000621856.1:c.1027G>T	ENSP00000482496.1:p.Val343Leu
NM_014946.3:c.1285G>T , LRG_714t1:c.1285G>T	NP_055761.2:p.Val429Leu
NM_199436.1:c.1189G>T	NP_955468.1:p.Val397Leu
XM_005264516.3:c.1282G>T	XP_005264573.1:p.Val428Leu
XM_011533067.1:c.1285G>T	XP_011531369.1:p.Val429Leu
NM_001363823.1:c.1282G>T	NP_001350752.1:p.Val428Leu
NM_001363875.1:c.1186G>T	NP_001350804.1:p.Val396Leu
XM_005264516.5:c.1282G>T	XP_005264573.1:p.Val428Leu
XM_011533067.2:c.1285G>T	XP_011531369.1:p.Val429Leu
XM_017004778.2:c.1189G>T	XP_016860267.1:p.Val397Leu
NM_001363823.2:c.1282G>T	NP_001350752.1:p.Val428Leu
NM_001363875.2:c.1186G>T	NP_001350804.1:p.Val396Leu
NM_001377959.1:c.1189G>T	NP_001364888.1:p.Val397Leu
NM_014946.4:c.1285G>T MANE Select	NP_055761.2:p.Val429Leu
NM_199436.2:c.1189G>T	NP_955468.1:p.Val397Leu