Canonical Allele Identifier: CA412824858
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 658864
ClinVar RCV Id: RCV000815768
dbSNP Id: rs1603050776
gnomAD v4: X-47574762-C-T
MyVariant Identifiers: chrX:g.47434161C>T (hg19) chrX:g.47574762C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574762C>T , CM000685.2:g.47574762C>T GRCh38
NC_000023.10:g.47434161C>T , CM000685.1:g.47434161C>T GRCh37
NC_000023.9:g.47319105C>T NCBI36
NG_008437.1:g.50096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1319G>A MANE Select ENSP00000295987.7:p.Gly440Glu
ENST00000340666.5:c.1319G>A ENSP00000343206.4:p.Gly440Glu
ENST00000295987.11:c.1319G>A ENSP00000295987.7:p.Gly440Glu
ENST00000340666.4:c.1319G>A ENSP00000343206.4:p.Gly440Glu
NM_006950.3:c.1319G>A MANE Select NP_008881.2:p.Gly440Glu
NM_133499.2:c.1319G>A NP_598006.1:p.Gly440Glu
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