Canonical Allele Identifier: CA329057198
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2842932
ClinVar RCV Id: RCV003623097
dbSNP Id: rs1019984242
gnomAD v3: X-47574162-C-A
gnomAD v4: X-47574162-C-A
MyVariant Identifiers: chrX:g.47433561C>A (hg19) chrX:g.47574162C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574162C>A , CM000685.2:g.47574162C>A GRCh38
NC_000023.10:g.47433561C>A , CM000685.1:g.47433561C>A GRCh37
NC_000023.9:g.47318505C>A NCBI36
NG_008437.1:g.50696G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1822G>T MANE Select ENSP00000295987.7:p.Gly608Cys
ENST00000340666.5:c.1822G>T ENSP00000343206.4:p.Gly608Cys
ENST00000640721.1:c.70+526G>T ENSP00000492857.1:n.70+526G>T
ENST00000295987.11:c.1822G>T ENSP00000295987.7:p.Gly608Cys
ENST00000340666.4:c.1822G>T ENSP00000343206.4:p.Gly608Cys
NM_006950.3:c.1822G>T MANE Select NP_008881.2:p.Gly608Cys
NM_133499.2:c.1822G>T NP_598006.1:p.Gly608Cys
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