Canonical Allele Identifier: CA425626859

Gene: SPAST

Linked Data

• dbSNP Id: rs1490909244
• gnomAD v2: 2-32289200-C-T
• gnomAD v4: 2-32064131-C-T
• MyVariant Identifiers: chr2:g.32289200C>T (hg19) ; chr2:g.32064131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064131C>T , CM000664.2:g.32064131C>T	GRCh38
NC_000002.11:g.32289200C>T , CM000664.1:g.32289200C>T	GRCh37
NC_000002.10:g.32142704C>T	NCBI36
NG_008730.1:g.5521C>T , LRG_714:g.5521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.300C>T	ENSP00000515816.1:p.Ala100=
ENST00000315285.9:c.300C>T MANE Select	ENSP00000320885.3:p.Ala100=
ENST00000621856.2:c.300C>T	ENSP00000482496.2:p.Ala100=
ENST00000642281.1:c.184C>T
ENST00000642455.1:c.300C>T	ENSP00000493827.1:p.Ala100=
ENST00000642751.1:c.170C>T
ENST00000642999.1:c.42C>T	ENSP00000496589.1:p.Ala14=
ENST00000644408.1:c.176C>T
ENST00000644954.1:c.42C>T	ENSP00000494312.1:p.Ala14=
ENST00000645400.1:c.141C>T	ENSP00000496306.1:p.Ala47=
ENST00000646082.1:c.134C>T
ENST00000646571.1:c.300C>T	ENSP00000495015.1:p.Ala100=
ENST00000315285.7:c.300C>T	ENSP00000320885.3:p.Ala100=
ENST00000345662.5:c.300C>T	ENSP00000340817.1:p.Ala100=
ENST00000615843.4:c.300C>T	ENSP00000480893.1:p.Ala100=
ENST00000621856.1:c.42C>T	ENSP00000482496.1:p.Ala14=
NM_014946.3:c.300C>T , LRG_714t1:c.300C>T	NP_055761.2:p.Ala100=
NM_199436.1:c.300C>T	NP_955468.1:p.Ala100=
XM_005264516.3:c.300C>T	XP_005264573.1:p.Ala100=
XM_011533067.1:c.300C>T	XP_011531369.1:p.Ala100=
NM_001363823.1:c.300C>T	NP_001350752.1:p.Ala100=
NM_001363875.1:c.300C>T	NP_001350804.1:p.Ala100=
XM_005264516.5:c.300C>T	XP_005264573.1:p.Ala100=
XM_011533067.2:c.300C>T	XP_011531369.1:p.Ala100=
XM_017004778.2:c.300C>T	XP_016860267.1:p.Ala100=
NM_001363823.2:c.300C>T	NP_001350752.1:p.Ala100=
NM_001363875.2:c.300C>T	NP_001350804.1:p.Ala100=
NM_001377959.1:c.300C>T	NP_001364888.1:p.Ala100=
NM_014946.4:c.300C>T MANE Select	NP_055761.2:p.Ala100=
NM_199436.2:c.300C>T	NP_955468.1:p.Ala100=