Canonical Allele Identifier: CA425446549

Gene: SPAST

Linked Data

• dbSNP Id: rs1437425856
• gnomAD v3: 2-32126948-T-C
• gnomAD v4: 2-32126948-T-C
• MyVariant Identifiers: chr2:g.32352017T>C (hg19) ; chr2:g.32126948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126948T>C , CM000664.2:g.32126948T>C	GRCh38
NC_000002.11:g.32352017T>C , CM000664.1:g.32352017T>C	GRCh37
NC_000002.10:g.32205521T>C	NCBI36
NG_008730.1:g.68338T>C , LRG_714:g.68338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*759T>C	ENSP00000515816.1:n.*759T>C
ENST00000315285.9:c.1099T>C MANE Select	ENSP00000320885.3:p.Leu367=
ENST00000621856.2:c.1096T>C	ENSP00000482496.2:p.Leu366=
ENST00000642281.1:c.983-9615T>C
ENST00000642455.1:c.1000T>C	ENSP00000493827.1:p.Leu334=
ENST00000642751.1:c.873T>C
ENST00000642999.1:c.841T>C	ENSP00000496589.1:p.Leu281=
ENST00000643327.1:c.258T>C
ENST00000643334.1:c.679T>C
ENST00000644408.1:c.975T>C
ENST00000644954.1:c.745T>C	ENSP00000494312.1:p.Leu249=
ENST00000645159.1:n.451T>C
ENST00000645550.1:n.312T>C
ENST00000645671.1:c.549T>C
ENST00000645730.1:c.446T>C
ENST00000646082.1:c.745T>C
ENST00000646571.1:c.1003T>C	ENSP00000495015.1:p.Leu335=
ENST00000647007.1:n.791T>C
ENST00000647133.1:c.674-1460T>C
ENST00000315285.7:c.1099T>C	ENSP00000320885.3:p.Leu367=
ENST00000345662.5:c.1003T>C	ENSP00000340817.1:p.Leu335=
ENST00000615843.4:c.1099T>C	ENSP00000480893.1:p.Leu367=
ENST00000621856.1:c.841T>C	ENSP00000482496.1:p.Leu281=
NM_014946.3:c.1099T>C , LRG_714t1:c.1099T>C	NP_055761.2:p.Leu367=
NM_199436.1:c.1003T>C	NP_955468.1:p.Leu335=
XM_005264516.3:c.1096T>C	XP_005264573.1:p.Leu366=
XM_011533067.1:c.1099T>C	XP_011531369.1:p.Leu367=
NM_001363823.1:c.1096T>C	NP_001350752.1:p.Leu366=
NM_001363875.1:c.1000T>C	NP_001350804.1:p.Leu334=
XM_005264516.5:c.1096T>C	XP_005264573.1:p.Leu366=
XM_011533067.2:c.1099T>C	XP_011531369.1:p.Leu367=
XM_017004778.2:c.1003T>C	XP_016860267.1:p.Leu335=
NM_001363823.2:c.1096T>C	NP_001350752.1:p.Leu366=
NM_001363875.2:c.1000T>C	NP_001350804.1:p.Leu334=
NM_001377959.1:c.1003T>C	NP_001364888.1:p.Leu335=
NM_014946.4:c.1099T>C MANE Select	NP_055761.2:p.Leu367=
NM_199436.2:c.1003T>C	NP_955468.1:p.Leu335=