Canonical Allele Identifier: CA346504309

Gene: SPAST

Linked Data

• gnomAD v4: 2-32147220-C-A
• MyVariant Identifiers: chr2:g.32372289C>A (hg19) ; chr2:g.32147220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147220C>A , CM000664.2:g.32147220C>A	GRCh38
NC_000002.11:g.32372289C>A , CM000664.1:g.32372289C>A	GRCh37
NC_000002.10:g.32225793C>A	NCBI36
NG_008730.1:g.88610C>A , LRG_714:g.88610C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1350C>A	ENSP00000515816.1:n.*1350C>A
ENST00000315285.9:c.1690C>A MANE Select	ENSP00000320885.3:p.Leu564Ile
ENST00000621856.2:c.1687C>A	ENSP00000482496.2:p.Leu563Ile
ENST00000642281.1:c.1427C>A
ENST00000642455.1:c.1591C>A	ENSP00000493827.1:p.Leu531Ile
ENST00000642751.1:c.1393C>A
ENST00000642999.1:c.1432C>A	ENSP00000496589.1:p.Leu478Ile
ENST00000643334.1:c.1270C>A
ENST00000644408.1:c.1589C>A
ENST00000644954.1:c.1336C>A	ENSP00000494312.1:p.Leu446Ile
ENST00000645159.1:n.2427C>A
ENST00000645671.1:c.1069C>A
ENST00000645730.1:c.869C>A
ENST00000646082.1:c.1336C>A
ENST00000646571.1:c.1594C>A	ENSP00000495015.1:p.Leu532Ile
ENST00000647007.1:n.1382C>A
ENST00000647133.1:c.1190C>A
ENST00000315285.7:c.1690C>A	ENSP00000320885.3:p.Leu564Ile
ENST00000345662.5:c.1594C>A	ENSP00000340817.1:p.Leu532Ile
ENST00000615843.4:c.1690C>A	ENSP00000480893.1:p.Leu564Ile
ENST00000621856.1:c.1432C>A	ENSP00000482496.1:p.Leu478Ile
NM_014946.3:c.1690C>A , LRG_714t1:c.1690C>A	NP_055761.2:p.Leu564Ile
NM_199436.1:c.1594C>A	NP_955468.1:p.Leu532Ile
XM_005264516.3:c.1687C>A	XP_005264573.1:p.Leu563Ile
XM_011533067.1:c.1619C>A	XP_011531369.1:p.Thr540Asn
NM_001363823.1:c.1687C>A	NP_001350752.1:p.Leu563Ile
NM_001363875.1:c.1591C>A	NP_001350804.1:p.Leu531Ile
XM_005264516.5:c.1687C>A	XP_005264573.1:p.Leu563Ile
XM_011533067.2:c.1619C>A	XP_011531369.1:p.Thr540Asn
XM_017004778.2:c.1523C>A	XP_016860267.1:p.Thr508Asn
NM_001363823.2:c.1687C>A	NP_001350752.1:p.Leu563Ile
NM_001363875.2:c.1591C>A	NP_001350804.1:p.Leu531Ile
NM_001377959.1:c.1523C>A	NP_001364888.1:p.Thr508Asn
NM_014946.4:c.1690C>A MANE Select	NP_055761.2:p.Leu564Ile
NM_199436.2:c.1594C>A	NP_955468.1:p.Leu532Ile