Canonical Allele Identifier: CA516353422
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 533665
ClinVar RCV Id: RCV000640885
dbSNP Id: rs1452773137
gnomAD v2: X-47433568-G-A
gnomAD v3: X-47574169-G-A
gnomAD v4: X-47574169-G-A
MyVariant Identifiers: chrX:g.47433568G>A (hg19) chrX:g.47574169G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574169G>A , CM000685.2:g.47574169G>A GRCh38
NC_000023.10:g.47433568G>A , CM000685.1:g.47433568G>A GRCh37
NC_000023.9:g.47318512G>A NCBI36
NG_008437.1:g.50689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1815C>T MANE Select ENSP00000295987.7:p.Ser605=
ENST00000340666.5:c.1815C>T ENSP00000343206.4:p.Ser605=
ENST00000640721.1:c.70+519C>T ENSP00000492857.1:n.70+519C>T
ENST00000295987.11:c.1815C>T ENSP00000295987.7:p.Ser605=
ENST00000340666.4:c.1815C>T ENSP00000343206.4:p.Ser605=
NM_006950.3:c.1815C>T MANE Select NP_008881.2:p.Ser605=
NM_133499.2:c.1815C>T NP_598006.1:p.Ser605=
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