Canonical Allele Identifier: CA1600853

Gene: SPAST

Linked Data

• dbSNP Id: rs139305914
• ExAC: 2:32361595 C / T
• gnomAD v2: 2-32361595-C-T
• gnomAD v3: 2-32136526-C-T
• gnomAD v4: 2-32136526-C-T
• MyVariant Identifiers: chr2:g.32361595C>T (hg19) ; chr2:g.32136526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136526C>T , CM000664.2:g.32136526C>T	GRCh38
NC_000002.11:g.32361595C>T , CM000664.1:g.32361595C>T	GRCh37
NC_000002.10:g.32215099C>T	NCBI36
NG_008730.1:g.77916C>T , LRG_714:g.77916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*906-37C>T	ENSP00000515816.1:n.*906-37C>T
ENST00000315285.9:c.1246-37C>T MANE Select	ENSP00000320885.3:n.1246-37C>T
ENST00000621856.2:c.1243-37C>T	ENSP00000482496.2:n.1243-37C>T
ENST00000642281.1:c.983-37C>T
ENST00000642455.1:c.1147-37C>T	ENSP00000493827.1:n.1147-37C>T
ENST00000642751.1:c.1020-37C>T
ENST00000642999.1:c.988-37C>T	ENSP00000496589.1:n.988-37C>T
ENST00000643327.1:c.405-37C>T
ENST00000643334.1:c.826-37C>T
ENST00000644408.1:c.1122-37C>T
ENST00000644954.1:c.892-37C>T	ENSP00000494312.1:n.892-37C>T
ENST00000645159.1:n.1983-37C>T
ENST00000645671.1:c.696-37C>T
ENST00000645730.1:c.593-583C>T
ENST00000646082.1:c.892-37C>T
ENST00000646571.1:c.1150-37C>T	ENSP00000495015.1:n.1150-37C>T
ENST00000647007.1:n.938-37C>T
ENST00000647133.1:c.746-37C>T
ENST00000315285.7:c.1246-37C>T	ENSP00000320885.3:n.1246-37C>T
ENST00000345662.5:c.1150-37C>T	ENSP00000340817.1:n.1150-37C>T
ENST00000615843.4:c.1246-37C>T	ENSP00000480893.1:n.1246-37C>T
ENST00000621856.1:c.988-37C>T	ENSP00000482496.1:n.988-37C>T
NM_014946.3:c.1246-37C>T , LRG_714t1:c.1246-37C>T	NP_055761.2:n.1246-37C>T
NM_199436.1:c.1150-37C>T	NP_955468.1:n.1150-37C>T
XM_005264516.3:c.1243-37C>T	XP_005264573.1:n.1243-37C>T
XM_011533067.1:c.1246-37C>T	XP_011531369.1:n.1246-37C>T
NM_001363823.1:c.1243-37C>T	NP_001350752.1:n.1243-37C>T
NM_001363875.1:c.1147-37C>T	NP_001350804.1:n.1147-37C>T
XM_005264516.5:c.1243-37C>T	XP_005264573.1:n.1243-37C>T
XM_011533067.2:c.1246-37C>T	XP_011531369.1:n.1246-37C>T
XM_017004778.2:c.1150-37C>T	XP_016860267.1:n.1150-37C>T
NM_001363823.2:c.1243-37C>T	NP_001350752.1:n.1243-37C>T
NM_001363875.2:c.1147-37C>T	NP_001350804.1:n.1147-37C>T
NM_001377959.1:c.1150-37C>T	NP_001364888.1:n.1150-37C>T
NM_014946.4:c.1246-37C>T MANE Select	NP_055761.2:n.1246-37C>T
NM_199436.2:c.1150-37C>T	NP_955468.1:n.1150-37C>T