Canonical Allele Identifier: CA346502042

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2883989
• ClinVar RCV Id: RCV003633312
• MyVariant Identifiers: chr2:g.32361659G>C (hg19) ; chr2:g.32136590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136590G>C , CM000664.2:g.32136590G>C	GRCh38
NC_000002.11:g.32361659G>C , CM000664.1:g.32361659G>C	GRCh37
NC_000002.10:g.32215163G>C	NCBI36
NG_008730.1:g.77980G>C , LRG_714:g.77980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*933G>C	ENSP00000515816.1:n.*933G>C
ENST00000315285.9:c.1273G>C MANE Select	ENSP00000320885.3:p.Ala425Pro
ENST00000621856.2:c.1270G>C	ENSP00000482496.2:p.Ala424Pro
ENST00000642281.1:c.1010G>C
ENST00000642455.1:c.1174G>C	ENSP00000493827.1:p.Ala392Pro
ENST00000642751.1:c.1047G>C
ENST00000642999.1:c.1015G>C	ENSP00000496589.1:p.Ala339Pro
ENST00000643327.1:c.432G>C
ENST00000643334.1:c.853G>C
ENST00000644408.1:c.1149G>C
ENST00000644954.1:c.919G>C	ENSP00000494312.1:p.Ala307Pro
ENST00000645159.1:n.2010G>C
ENST00000645671.1:c.723G>C
ENST00000645730.1:c.593-519G>C
ENST00000646082.1:c.919G>C
ENST00000646571.1:c.1177G>C	ENSP00000495015.1:p.Ala393Pro
ENST00000647007.1:n.965G>C
ENST00000647133.1:c.773G>C
ENST00000315285.7:c.1273G>C	ENSP00000320885.3:p.Ala425Pro
ENST00000345662.5:c.1177G>C	ENSP00000340817.1:p.Ala393Pro
ENST00000615843.4:c.1273G>C	ENSP00000480893.1:p.Ala425Pro
ENST00000621856.1:c.1015G>C	ENSP00000482496.1:p.Ala339Pro
NM_014946.3:c.1273G>C , LRG_714t1:c.1273G>C	NP_055761.2:p.Ala425Pro
NM_199436.1:c.1177G>C	NP_955468.1:p.Ala393Pro
XM_005264516.3:c.1270G>C	XP_005264573.1:p.Ala424Pro
XM_011533067.1:c.1273G>C	XP_011531369.1:p.Ala425Pro
NM_001363823.1:c.1270G>C	NP_001350752.1:p.Ala424Pro
NM_001363875.1:c.1174G>C	NP_001350804.1:p.Ala392Pro
XM_005264516.5:c.1270G>C	XP_005264573.1:p.Ala424Pro
XM_011533067.2:c.1273G>C	XP_011531369.1:p.Ala425Pro
XM_017004778.2:c.1177G>C	XP_016860267.1:p.Ala393Pro
NM_001363823.2:c.1270G>C	NP_001350752.1:p.Ala424Pro
NM_001363875.2:c.1174G>C	NP_001350804.1:p.Ala392Pro
NM_001377959.1:c.1177G>C	NP_001364888.1:p.Ala393Pro
NM_014946.4:c.1273G>C MANE Select	NP_055761.2:p.Ala425Pro
NM_199436.2:c.1177G>C	NP_955468.1:p.Ala393Pro