Canonical Allele Identifier: CA346504370

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32372315G>A (hg19) ; chr2:g.32147246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147246G>A , CM000664.2:g.32147246G>A	GRCh38
NC_000002.11:g.32372315G>A , CM000664.1:g.32372315G>A	GRCh37
NC_000002.10:g.32225819G>A	NCBI36
NG_008730.1:g.88636G>A , LRG_714:g.88636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1376G>A	ENSP00000515816.1:n.*1376G>A
ENST00000315285.9:c.1716G>A MANE Select	ENSP00000320885.3:p.Met572Ile
ENST00000621856.2:c.1713G>A	ENSP00000482496.2:p.Met571Ile
ENST00000642281.1:c.1453G>A
ENST00000642455.1:c.1617G>A	ENSP00000493827.1:p.Met539Ile
ENST00000642751.1:c.1419G>A
ENST00000642999.1:c.1458G>A	ENSP00000496589.1:p.Met486Ile
ENST00000643334.1:c.1296G>A
ENST00000644408.1:c.1615G>A
ENST00000644954.1:c.1362G>A	ENSP00000494312.1:p.Met454Ile
ENST00000645159.1:n.2453G>A
ENST00000645671.1:c.1095G>A
ENST00000645730.1:c.895G>A
ENST00000646082.1:c.1362G>A
ENST00000646571.1:c.1620G>A	ENSP00000495015.1:p.Met540Ile
ENST00000647007.1:n.1408G>A
ENST00000647133.1:c.1216G>A
ENST00000315285.7:c.1716G>A	ENSP00000320885.3:p.Met572Ile
ENST00000345662.5:c.1620G>A	ENSP00000340817.1:p.Met540Ile
ENST00000615843.4:c.1716G>A	ENSP00000480893.1:p.Met572Ile
ENST00000621856.1:c.1458G>A	ENSP00000482496.1:p.Met486Ile
NM_014946.3:c.1716G>A , LRG_714t1:c.1716G>A	NP_055761.2:p.Met572Ile
NM_199436.1:c.1620G>A	NP_955468.1:p.Met540Ile
XM_005264516.3:c.1713G>A	XP_005264573.1:p.Met571Ile
XM_011533067.1:c.1645G>A	XP_011531369.1:p.Val549Ile
NM_001363823.1:c.1713G>A	NP_001350752.1:p.Met571Ile
NM_001363875.1:c.1617G>A	NP_001350804.1:p.Met539Ile
XM_005264516.5:c.1713G>A	XP_005264573.1:p.Met571Ile
XM_011533067.2:c.1645G>A	XP_011531369.1:p.Val549Ile
XM_017004778.2:c.1549G>A	XP_016860267.1:p.Val517Ile
NM_001363823.2:c.1713G>A	NP_001350752.1:p.Met571Ile
NM_001363875.2:c.1617G>A	NP_001350804.1:p.Met539Ile
NM_001377959.1:c.1549G>A	NP_001364888.1:p.Val517Ile
NM_014946.4:c.1716G>A MANE Select	NP_055761.2:p.Met572Ile
NM_199436.2:c.1620G>A	NP_955468.1:p.Met540Ile