Canonical Allele Identifier: CA346504325

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32372296C>A (hg19) ; chr2:g.32147227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147227C>A , CM000664.2:g.32147227C>A	GRCh38
NC_000002.11:g.32372296C>A , CM000664.1:g.32372296C>A	GRCh37
NC_000002.10:g.32225800C>A	NCBI36
NG_008730.1:g.88617C>A , LRG_714:g.88617C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1357C>A	ENSP00000515816.1:n.*1357C>A
ENST00000315285.9:c.1697C>A MANE Select	ENSP00000320885.3:p.Pro566Gln
ENST00000621856.2:c.1694C>A	ENSP00000482496.2:p.Pro565Gln
ENST00000642281.1:c.1434C>A
ENST00000642455.1:c.1598C>A	ENSP00000493827.1:p.Pro533Gln
ENST00000642751.1:c.1400C>A
ENST00000642999.1:c.1439C>A	ENSP00000496589.1:p.Pro480Gln
ENST00000643334.1:c.1277C>A
ENST00000644408.1:c.1596C>A
ENST00000644954.1:c.1343C>A	ENSP00000494312.1:p.Pro448Gln
ENST00000645159.1:n.2434C>A
ENST00000645671.1:c.1076C>A
ENST00000645730.1:c.876C>A
ENST00000646082.1:c.1343C>A
ENST00000646571.1:c.1601C>A	ENSP00000495015.1:p.Pro534Gln
ENST00000647007.1:n.1389C>A
ENST00000647133.1:c.1197C>A
ENST00000315285.7:c.1697C>A	ENSP00000320885.3:p.Pro566Gln
ENST00000345662.5:c.1601C>A	ENSP00000340817.1:p.Pro534Gln
ENST00000615843.4:c.1697C>A	ENSP00000480893.1:p.Pro566Gln
ENST00000621856.1:c.1439C>A	ENSP00000482496.1:p.Pro480Gln
NM_014946.3:c.1697C>A , LRG_714t1:c.1697C>A	NP_055761.2:p.Pro566Gln
NM_199436.1:c.1601C>A	NP_955468.1:p.Pro534Gln
XM_005264516.3:c.1694C>A	XP_005264573.1:p.Pro565Gln
XM_011533067.1:c.1626C>A	XP_011531369.1:p.Thr542=
NM_001363823.1:c.1694C>A	NP_001350752.1:p.Pro565Gln
NM_001363875.1:c.1598C>A	NP_001350804.1:p.Pro533Gln
XM_005264516.5:c.1694C>A	XP_005264573.1:p.Pro565Gln
XM_011533067.2:c.1626C>A	XP_011531369.1:p.Thr542=
XM_017004778.2:c.1530C>A	XP_016860267.1:p.Thr510=
NM_001363823.2:c.1694C>A	NP_001350752.1:p.Pro565Gln
NM_001363875.2:c.1598C>A	NP_001350804.1:p.Pro533Gln
NM_001377959.1:c.1530C>A	NP_001364888.1:p.Thr510=
NM_014946.4:c.1697C>A MANE Select	NP_055761.2:p.Pro566Gln
NM_199436.2:c.1601C>A	NP_955468.1:p.Pro534Gln