Canonical Allele Identifier: CA346502953

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141935C>T , CM000664.2:g.32141935C>T	GRCh38
NC_000002.11:g.32367004C>T , CM000664.1:g.32367004C>T	GRCh37
NC_000002.10:g.32220508C>T	NCBI36
NG_008730.1:g.83325C>T , LRG_714:g.83325C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1525C>T MANE Select	NP_055761.2:p.Pro509Ser
ENST00000315285.9:c.1525C>T MANE Select	ENSP00000320885.3:p.Pro509Ser
NM_001363823.1:c.1522C>T	NP_001350752.1:p.Pro508Ser
NM_001363823.2:c.1522C>T	NP_001350752.1:p.Pro508Ser
NM_001363875.1:c.1426C>T	NP_001350804.1:p.Pro476Ser
NM_001363875.2:c.1426C>T	NP_001350804.1:p.Pro476Ser
NM_001377959.1:c.1429C>T	NP_001364888.1:p.Pro477Ser
NM_014946.3:c.1525C>T , LRG_714t1:c.1525C>T	NP_055761.2:p.Pro509Ser
NM_199436.1:c.1429C>T	NP_955468.1:p.Pro477Ser
NM_199436.2:c.1429C>T	NP_955468.1:p.Pro477Ser
ENST00000315285.7:c.1525C>T	ENSP00000320885.3:p.Pro509Ser
ENST00000345662.5:c.1429C>T	ENSP00000340817.1:p.Pro477Ser
ENST00000615843.4:c.1525C>T	ENSP00000480893.1:p.Pro509Ser
ENST00000621856.1:c.1267C>T	ENSP00000482496.1:p.Pro423Ser
ENST00000621856.2:c.1522C>T	ENSP00000482496.2:p.Pro508Ser
ENST00000642281.1:c.1262C>T
ENST00000642455.1:c.1426C>T	ENSP00000493827.1:p.Pro476Ser
ENST00000642751.1:c.1299C>T
ENST00000642999.1:c.1267C>T	ENSP00000496589.1:p.Pro423Ser
ENST00000643327.1:c.592C>T
ENST00000643334.1:c.1105C>T
ENST00000644408.1:c.1401C>T
ENST00000644954.1:c.1171C>T	ENSP00000494312.1:p.Pro391Ser
ENST00000645159.1:n.2262C>T
ENST00000645671.1:c.975C>T
ENST00000645730.1:c.704C>T
ENST00000646082.1:c.1171C>T
ENST00000646571.1:c.1429C>T	ENSP00000495015.1:p.Pro477Ser
ENST00000647007.1:n.1217C>T
ENST00000647133.1:c.1025C>T
ENST00000704289.1:c.*1185C>T	ENSP00000515816.1:n.*1185C>T
XM_005264516.3:c.1522C>T	XP_005264573.1:p.Pro508Ser
XM_005264516.5:c.1522C>T	XP_005264573.1:p.Pro508Ser
XM_011533067.1:c.1525C>T	XP_011531369.1:p.Pro509Ser
XM_011533067.2:c.1525C>T	XP_011531369.1:p.Pro509Ser
XM_017004778.2:c.1429C>T	XP_016860267.1:p.Pro477Ser