Canonical Allele Identifier: CA1600838

Gene: SPAST

Linked Data

• dbSNP Id: rs772717079
• ExAC: 2:32353546 T / C
• gnomAD v2: 2-32353546-T-C
• MyVariant Identifiers: chr2:g.32353546T>C (hg19) ; chr2:g.32128477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128477T>C , CM000664.2:g.32128477T>C	GRCh38
NC_000002.11:g.32353546T>C , CM000664.1:g.32353546T>C	GRCh37
NC_000002.10:g.32207050T>C	NCBI36
NG_008730.1:g.69867T>C , LRG_714:g.69867T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*903T>C	ENSP00000515816.1:n.*903T>C
ENST00000315285.9:c.1243T>C MANE Select	ENSP00000320885.3:p.Tyr415His
ENST00000621856.2:c.1240T>C	ENSP00000482496.2:p.Tyr414His
ENST00000642281.1:c.983-8086T>C
ENST00000642455.1:c.1144T>C	ENSP00000493827.1:p.Tyr382His
ENST00000642751.1:c.1017T>C
ENST00000642999.1:c.985T>C	ENSP00000496589.1:p.Tyr329His
ENST00000643327.1:c.402T>C
ENST00000643334.1:c.823T>C
ENST00000644408.1:c.1119T>C
ENST00000644954.1:c.889T>C	ENSP00000494312.1:p.Tyr297His
ENST00000645159.1:n.1980T>C
ENST00000645550.1:n.456T>C
ENST00000645671.1:c.693T>C
ENST00000645730.1:c.590T>C
ENST00000646082.1:c.889T>C
ENST00000646571.1:c.1147T>C	ENSP00000495015.1:p.Tyr383His
ENST00000647007.1:n.935T>C
ENST00000647133.1:c.743T>C
ENST00000315285.7:c.1243T>C	ENSP00000320885.3:p.Tyr415His
ENST00000345662.5:c.1147T>C	ENSP00000340817.1:p.Tyr383His
ENST00000615843.4:c.1243T>C	ENSP00000480893.1:p.Tyr415His
ENST00000621856.1:c.985T>C	ENSP00000482496.1:p.Tyr329His
NM_014946.3:c.1243T>C , LRG_714t1:c.1243T>C	NP_055761.2:p.Tyr415His
NM_199436.1:c.1147T>C	NP_955468.1:p.Tyr383His
XM_005264516.3:c.1240T>C	XP_005264573.1:p.Tyr414His
XM_011533067.1:c.1243T>C	XP_011531369.1:p.Tyr415His
NM_001363823.1:c.1240T>C	NP_001350752.1:p.Tyr414His
NM_001363875.1:c.1144T>C	NP_001350804.1:p.Tyr382His
XM_005264516.5:c.1240T>C	XP_005264573.1:p.Tyr414His
XM_011533067.2:c.1243T>C	XP_011531369.1:p.Tyr415His
XM_017004778.2:c.1147T>C	XP_016860267.1:p.Tyr383His
NM_001363823.2:c.1240T>C	NP_001350752.1:p.Tyr414His
NM_001363875.2:c.1144T>C	NP_001350804.1:p.Tyr382His
NM_001377959.1:c.1147T>C	NP_001364888.1:p.Tyr383His
NM_014946.4:c.1243T>C MANE Select	NP_055761.2:p.Tyr415His
NM_199436.2:c.1147T>C	NP_955468.1:p.Tyr383His