Canonical Allele Identifier: CA44750170

Gene: SPAST

Linked Data

• dbSNP Id: rs867575128
• MyVariant Identifiers: chr2:g.32362251T>C (hg19) ; chr2:g.32137182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137182T>C , CM000664.2:g.32137182T>C	GRCh38
NC_000002.11:g.32362251T>C , CM000664.1:g.32362251T>C	GRCh37
NC_000002.10:g.32215755T>C	NCBI36
NG_008730.1:g.78572T>C , LRG_714:g.78572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1147T>C	ENSP00000515816.1:n.*1147T>C
ENST00000315285.9:c.1487T>C MANE Select	ENSP00000320885.3:p.Val496Ala
ENST00000621856.2:c.1484T>C	ENSP00000482496.2:p.Val495Ala
ENST00000642281.1:c.1224T>C
ENST00000642455.1:c.1388T>C	ENSP00000493827.1:p.Val463Ala
ENST00000642751.1:c.1261T>C
ENST00000642999.1:c.1229T>C	ENSP00000496589.1:p.Val410Ala
ENST00000643327.1:c.554T>C
ENST00000643334.1:c.1067T>C
ENST00000644408.1:c.1363T>C
ENST00000644954.1:c.1133T>C	ENSP00000494312.1:p.Val378Ala
ENST00000645159.1:n.2224T>C
ENST00000645671.1:c.937T>C
ENST00000645730.1:c.666T>C
ENST00000646082.1:c.1133T>C
ENST00000646571.1:c.1391T>C	ENSP00000495015.1:p.Val464Ala
ENST00000647007.1:n.1179T>C
ENST00000647133.1:c.987T>C
ENST00000315285.7:c.1487T>C	ENSP00000320885.3:p.Val496Ala
ENST00000345662.5:c.1391T>C	ENSP00000340817.1:p.Val464Ala
ENST00000615843.4:c.1487T>C	ENSP00000480893.1:p.Val496Ala
ENST00000621856.1:c.1229T>C	ENSP00000482496.1:p.Val410Ala
NM_014946.3:c.1487T>C , LRG_714t1:c.1487T>C	NP_055761.2:p.Val496Ala
NM_199436.1:c.1391T>C	NP_955468.1:p.Val464Ala
XM_005264516.3:c.1484T>C	XP_005264573.1:p.Val495Ala
XM_011533067.1:c.1487T>C	XP_011531369.1:p.Val496Ala
NM_001363823.1:c.1484T>C	NP_001350752.1:p.Val495Ala
NM_001363875.1:c.1388T>C	NP_001350804.1:p.Val463Ala
XM_005264516.5:c.1484T>C	XP_005264573.1:p.Val495Ala
XM_011533067.2:c.1487T>C	XP_011531369.1:p.Val496Ala
XM_017004778.2:c.1391T>C	XP_016860267.1:p.Val464Ala
NM_001363823.2:c.1484T>C	NP_001350752.1:p.Val495Ala
NM_001363875.2:c.1388T>C	NP_001350804.1:p.Val463Ala
NM_001377959.1:c.1391T>C	NP_001364888.1:p.Val464Ala
NM_014946.4:c.1487T>C MANE Select	NP_055761.2:p.Val496Ala
NM_199436.2:c.1391T>C	NP_955468.1:p.Val464Ala