Canonical Allele Identifier: CA10398367
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 436901
ClinVar RCV Id: RCV000501441 RCV001857173 RCV002383974
dbSNP Id: rs772106134
ExAC: X:47434159 C / T
gnomAD v2: X-47434159-C-T
gnomAD v4: X-47574760-C-T
MyVariant Identifiers: chrX:g.47434159C>T (hg19) chrX:g.47574760C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574760C>T , CM000685.2:g.47574760C>T GRCh38
NC_000023.10:g.47434159C>T , CM000685.1:g.47434159C>T GRCh37
NC_000023.9:g.47319103C>T NCBI36
NG_008437.1:g.50098G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1321G>A MANE Select ENSP00000295987.7:p.Ala441Thr
ENST00000340666.5:c.1321G>A ENSP00000343206.4:p.Ala441Thr
ENST00000295987.11:c.1321G>A ENSP00000295987.7:p.Ala441Thr
ENST00000340666.4:c.1321G>A ENSP00000343206.4:p.Ala441Thr
NM_006950.3:c.1321G>A MANE Select NP_008881.2:p.Ala441Thr
NM_133499.2:c.1321G>A NP_598006.1:p.Ala441Thr
Search 100 bp 5'
Search 100 bp 3'