Canonical Allele Identifier: CA346502454

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32362213G>C (hg19) ; chr2:g.32137144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137144G>C , CM000664.2:g.32137144G>C	GRCh38
NC_000002.11:g.32362213G>C , CM000664.1:g.32362213G>C	GRCh37
NC_000002.10:g.32215717G>C	NCBI36
NG_008730.1:g.78534G>C , LRG_714:g.78534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1109G>C	ENSP00000515816.1:n.*1109G>C
ENST00000315285.9:c.1449G>C MANE Select	ENSP00000320885.3:p.Met483Ile
ENST00000621856.2:c.1446G>C	ENSP00000482496.2:p.Met482Ile
ENST00000642281.1:c.1186G>C
ENST00000642455.1:c.1350G>C	ENSP00000493827.1:p.Met450Ile
ENST00000642751.1:c.1223G>C
ENST00000642999.1:c.1191G>C	ENSP00000496589.1:p.Met397Ile
ENST00000643327.1:c.516G>C
ENST00000643334.1:c.1029G>C
ENST00000644408.1:c.1325G>C
ENST00000644954.1:c.1095G>C	ENSP00000494312.1:p.Met365Ile
ENST00000645159.1:n.2186G>C
ENST00000645671.1:c.899G>C
ENST00000645730.1:c.628G>C
ENST00000646082.1:c.1095G>C
ENST00000646571.1:c.1353G>C	ENSP00000495015.1:p.Met451Ile
ENST00000647007.1:n.1141G>C
ENST00000647133.1:c.949G>C
ENST00000315285.7:c.1449G>C	ENSP00000320885.3:p.Met483Ile
ENST00000345662.5:c.1353G>C	ENSP00000340817.1:p.Met451Ile
ENST00000615843.4:c.1449G>C	ENSP00000480893.1:p.Met483Ile
ENST00000621856.1:c.1191G>C	ENSP00000482496.1:p.Met397Ile
NM_014946.3:c.1449G>C , LRG_714t1:c.1449G>C	NP_055761.2:p.Met483Ile
NM_199436.1:c.1353G>C	NP_955468.1:p.Met451Ile
XM_005264516.3:c.1446G>C	XP_005264573.1:p.Met482Ile
XM_011533067.1:c.1449G>C	XP_011531369.1:p.Met483Ile
NM_001363823.1:c.1446G>C	NP_001350752.1:p.Met482Ile
NM_001363875.1:c.1350G>C	NP_001350804.1:p.Met450Ile
XM_005264516.5:c.1446G>C	XP_005264573.1:p.Met482Ile
XM_011533067.2:c.1449G>C	XP_011531369.1:p.Met483Ile
XM_017004778.2:c.1353G>C	XP_016860267.1:p.Met451Ile
NM_001363823.2:c.1446G>C	NP_001350752.1:p.Met482Ile
NM_001363875.2:c.1350G>C	NP_001350804.1:p.Met450Ile
NM_001377959.1:c.1353G>C	NP_001364888.1:p.Met451Ile
NM_014946.4:c.1449G>C MANE Select	NP_055761.2:p.Met483Ile
NM_199436.2:c.1353G>C	NP_955468.1:p.Met451Ile