Canonical Allele Identifier: CA346501225

Gene: SPAST

Linked Data

• gnomAD v4: 2-32126964-G-C
• MyVariant Identifiers: chr2:g.32352033G>C (hg19) ; chr2:g.32126964G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126964G>C , CM000664.2:g.32126964G>C	GRCh38
NC_000002.11:g.32352033G>C , CM000664.1:g.32352033G>C	GRCh37
NC_000002.10:g.32205537G>C	NCBI36
NG_008730.1:g.68354G>C , LRG_714:g.68354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*775G>C	ENSP00000515816.1:n.*775G>C
ENST00000315285.9:c.1115G>C MANE Select	ENSP00000320885.3:p.Arg372Thr
ENST00000621856.2:c.1112G>C	ENSP00000482496.2:p.Arg371Thr
ENST00000642281.1:c.983-9599G>C
ENST00000642455.1:c.1016G>C	ENSP00000493827.1:p.Arg339Thr
ENST00000642751.1:c.889G>C
ENST00000642999.1:c.857G>C	ENSP00000496589.1:p.Arg286Thr
ENST00000643327.1:c.274G>C
ENST00000643334.1:c.695G>C
ENST00000644408.1:c.991G>C
ENST00000644954.1:c.761G>C	ENSP00000494312.1:p.Arg254Thr
ENST00000645159.1:n.467G>C
ENST00000645550.1:n.328G>C
ENST00000645671.1:c.565G>C
ENST00000645730.1:c.462G>C
ENST00000646082.1:c.761G>C
ENST00000646571.1:c.1019G>C	ENSP00000495015.1:p.Arg340Thr
ENST00000647007.1:n.807G>C
ENST00000647133.1:c.674-1444G>C
ENST00000315285.7:c.1115G>C	ENSP00000320885.3:p.Arg372Thr
ENST00000345662.5:c.1019G>C	ENSP00000340817.1:p.Arg340Thr
ENST00000615843.4:c.1115G>C	ENSP00000480893.1:p.Arg372Thr
ENST00000621856.1:c.857G>C	ENSP00000482496.1:p.Arg286Thr
NM_014946.3:c.1115G>C , LRG_714t1:c.1115G>C	NP_055761.2:p.Arg372Thr
NM_199436.1:c.1019G>C	NP_955468.1:p.Arg340Thr
XM_005264516.3:c.1112G>C	XP_005264573.1:p.Arg371Thr
XM_011533067.1:c.1115G>C	XP_011531369.1:p.Arg372Thr
NM_001363823.1:c.1112G>C	NP_001350752.1:p.Arg371Thr
NM_001363875.1:c.1016G>C	NP_001350804.1:p.Arg339Thr
XM_005264516.5:c.1112G>C	XP_005264573.1:p.Arg371Thr
XM_011533067.2:c.1115G>C	XP_011531369.1:p.Arg372Thr
XM_017004778.2:c.1019G>C	XP_016860267.1:p.Arg340Thr
NM_001363823.2:c.1112G>C	NP_001350752.1:p.Arg371Thr
NM_001363875.2:c.1016G>C	NP_001350804.1:p.Arg339Thr
NM_001377959.1:c.1019G>C	NP_001364888.1:p.Arg340Thr
NM_014946.4:c.1115G>C MANE Select	NP_055761.2:p.Arg372Thr
NM_199436.2:c.1019G>C	NP_955468.1:p.Arg340Thr