Canonical Allele Identifier: CA516353842
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1778408
ClinVar RCV Id: RCV002406347 RCV003097142
dbSNP Id: rs1357882662
gnomAD v3: X-47574280-G-C
gnomAD v4: X-47574280-G-C
MyVariant Identifiers: chrX:g.47433679G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574280G>C , CM000685.2:g.47574280G>C GRCh38
NC_000023.10:g.47433679G>C , CM000685.1:g.47433679G>C GRCh37
NC_000023.9:g.47318623G>C NCBI36
NG_008437.1:g.50578C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1704C>G MANE Select ENSP00000295987.7:p.Ser568=
ENST00000340666.5:c.1704C>G ENSP00000343206.4:p.Ser568=
ENST00000640721.1:c.70+408C>G ENSP00000492857.1:n.70+408C>G
ENST00000295987.11:c.1704C>G ENSP00000295987.7:p.Ser568=
ENST00000340666.4:c.1704C>G ENSP00000343206.4:p.Ser568=
NM_006950.3:c.1704C>G MANE Select NP_008881.2:p.Ser568=
NM_133499.2:c.1704C>G NP_598006.1:p.Ser568=
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