Canonical Allele Identifier: CA1600839

Gene: SPAST

Linked Data

• dbSNP Id: rs762514549
• ExAC: 2:32353548 C / T
• gnomAD v2: 2-32353548-C-T
• gnomAD v4: 2-32128479-C-T
• COSMIC: COSM1020152
• MyVariant Identifiers: chr2:g.32353548C>T (hg19) ; chr2:g.32128479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128479C>T , CM000664.2:g.32128479C>T	GRCh38
NC_000002.11:g.32353548C>T , CM000664.1:g.32353548C>T	GRCh37
NC_000002.10:g.32207052C>T	NCBI36
NG_008730.1:g.69869C>T , LRG_714:g.69869C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*905C>T	ENSP00000515816.1:n.*905C>T
ENST00000315285.9:c.1245C>T MANE Select	ENSP00000320885.3:p.Tyr415=
ENST00000621856.2:c.1242C>T	ENSP00000482496.2:p.Tyr414=
ENST00000642281.1:c.983-8084C>T
ENST00000642455.1:c.1146C>T	ENSP00000493827.1:p.Tyr382=
ENST00000642751.1:c.1019C>T
ENST00000642999.1:c.987C>T	ENSP00000496589.1:p.Tyr329=
ENST00000643327.1:c.404C>T
ENST00000643334.1:c.825C>T
ENST00000644408.1:c.1121C>T
ENST00000644954.1:c.891C>T	ENSP00000494312.1:p.Tyr297=
ENST00000645159.1:n.1982C>T
ENST00000645550.1:n.458C>T
ENST00000645671.1:c.695C>T
ENST00000645730.1:c.592C>T
ENST00000646082.1:c.891C>T
ENST00000646571.1:c.1149C>T	ENSP00000495015.1:p.Tyr383=
ENST00000647007.1:n.937C>T
ENST00000647133.1:c.745C>T
ENST00000315285.7:c.1245C>T	ENSP00000320885.3:p.Tyr415=
ENST00000345662.5:c.1149C>T	ENSP00000340817.1:p.Tyr383=
ENST00000615843.4:c.1245C>T	ENSP00000480893.1:p.Tyr415=
ENST00000621856.1:c.987C>T	ENSP00000482496.1:p.Tyr329=
NM_014946.3:c.1245C>T , LRG_714t1:c.1245C>T	NP_055761.2:p.Tyr415=
NM_199436.1:c.1149C>T	NP_955468.1:p.Tyr383=
XM_005264516.3:c.1242C>T	XP_005264573.1:p.Tyr414=
XM_011533067.1:c.1245C>T	XP_011531369.1:p.Tyr415=
NM_001363823.1:c.1242C>T	NP_001350752.1:p.Tyr414=
NM_001363875.1:c.1146C>T	NP_001350804.1:p.Tyr382=
XM_005264516.5:c.1242C>T	XP_005264573.1:p.Tyr414=
XM_011533067.2:c.1245C>T	XP_011531369.1:p.Tyr415=
XM_017004778.2:c.1149C>T	XP_016860267.1:p.Tyr383=
NM_001363823.2:c.1242C>T	NP_001350752.1:p.Tyr414=
NM_001363875.2:c.1146C>T	NP_001350804.1:p.Tyr382=
NM_001377959.1:c.1149C>T	NP_001364888.1:p.Tyr383=
NM_014946.4:c.1245C>T MANE Select	NP_055761.2:p.Tyr415=
NM_199436.2:c.1149C>T	NP_955468.1:p.Tyr383=