Canonical Allele Identifier: CA44757802

Gene: SPAST

Linked Data

• dbSNP Id: rs568239791
• gnomAD v2: 2-32371849-G-C
• gnomAD v3: 2-32146780-G-C
• gnomAD v4: 2-32146780-G-C
• MyVariant Identifiers: chr2:g.32371849G>C (hg19) ; chr2:g.32146780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32146780G>C , CM000664.2:g.32146780G>C	GRCh38
NC_000002.11:g.32371849G>C , CM000664.1:g.32371849G>C	GRCh37
NC_000002.10:g.32225353G>C	NCBI36
NG_008730.1:g.88170G>C , LRG_714:g.88170G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1348-438G>C	ENSP00000515816.1:n.*1348-438G>C
ENST00000315285.9:c.1688-438G>C MANE Select	ENSP00000320885.3:n.1688-438G>C
ENST00000621856.2:c.1685-438G>C	ENSP00000482496.2:n.1685-438G>C
ENST00000642281.1:c.1425-438G>C
ENST00000642455.1:c.1589-438G>C	ENSP00000493827.1:n.1589-438G>C
ENST00000642751.1:c.1391-438G>C
ENST00000642999.1:c.1430-438G>C	ENSP00000496589.1:n.1430-438G>C
ENST00000643334.1:c.1268-438G>C
ENST00000644408.1:c.1564-415G>C
ENST00000644954.1:c.1334-438G>C	ENSP00000494312.1:n.1334-438G>C
ENST00000645159.1:n.2425-438G>C
ENST00000645671.1:c.1067-438G>C
ENST00000645730.1:c.867-438G>C
ENST00000646082.1:c.1334-438G>C
ENST00000646571.1:c.1592-438G>C	ENSP00000495015.1:n.1592-438G>C
ENST00000647007.1:n.1380-438G>C
ENST00000647133.1:c.1188-438G>C
ENST00000315285.7:c.1688-438G>C	ENSP00000320885.3:n.1688-438G>C
ENST00000345662.5:c.1592-438G>C	ENSP00000340817.1:n.1592-438G>C
ENST00000615843.4:c.1688-438G>C	ENSP00000480893.1:n.1688-438G>C
ENST00000621856.1:c.1430-438G>C	ENSP00000482496.1:n.1430-438G>C
NM_014946.3:c.1688-438G>C , LRG_714t1:c.1688-438G>C	NP_055761.2:n.1688-438G>C
NM_199436.1:c.1592-438G>C	NP_955468.1:n.1592-438G>C
XM_005264516.3:c.1685-438G>C	XP_005264573.1:n.1685-438G>C
XM_011533067.1:c.1617-438G>C	XP_011531369.1:n.1617-438G>C
NM_001363823.1:c.1685-438G>C	NP_001350752.1:n.1685-438G>C
NM_001363875.1:c.1589-438G>C	NP_001350804.1:n.1589-438G>C
XM_005264516.5:c.1685-438G>C	XP_005264573.1:n.1685-438G>C
XM_011533067.2:c.1617-438G>C	XP_011531369.1:n.1617-438G>C
XM_017004778.2:c.1521-438G>C	XP_016860267.1:n.1521-438G>C
NM_001363823.2:c.1685-438G>C	NP_001350752.1:n.1685-438G>C
NM_001363875.2:c.1589-438G>C	NP_001350804.1:n.1589-438G>C
NM_001377959.1:c.1521-438G>C	NP_001364888.1:n.1521-438G>C
NM_014946.4:c.1688-438G>C MANE Select	NP_055761.2:n.1688-438G>C
NM_199436.2:c.1592-438G>C	NP_955468.1:n.1592-438G>C