Canonical Allele Identifier: CA516353504
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2417020
ClinVar RCV Id: RCV003111848
dbSNP Id: rs1390528791
gnomAD v2: X-47433619-C-T
gnomAD v4: X-47574220-C-T
MyVariant Identifiers: chrX:g.47433619C>T (hg19) chrX:g.47574220C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574220C>T , CM000685.2:g.47574220C>T GRCh38
NC_000023.10:g.47433619C>T , CM000685.1:g.47433619C>T GRCh37
NC_000023.9:g.47318563C>T NCBI36
NG_008437.1:g.50638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1764G>A MANE Select ENSP00000295987.7:p.Gln588=
ENST00000340666.5:c.1764G>A ENSP00000343206.4:p.Gln588=
ENST00000640721.1:c.70+468G>A ENSP00000492857.1:n.70+468G>A
ENST00000295987.11:c.1764G>A ENSP00000295987.7:p.Gln588=
ENST00000340666.4:c.1764G>A ENSP00000343206.4:p.Gln588=
NM_006950.3:c.1764G>A MANE Select NP_008881.2:p.Gln588=
NM_133499.2:c.1764G>A NP_598006.1:p.Gln588=
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