Canonical Allele Identifier: CA515990899
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 994515
ClinVar RCV Id: RCV001288020
dbSNP Id: rs1227806166
gnomAD v2: X-47432269-G-A
gnomAD v4: X-47572870-G-A
MyVariant Identifiers: chrX:g.47432269G>A (hg19) chrX:g.47572870G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572870G>A , CM000685.2:g.47572870G>A GRCh38
NC_000023.10:g.47432269G>A , CM000685.1:g.47432269G>A GRCh37
NC_000023.9:g.47317213G>A NCBI36
NG_008437.1:g.51988C>T
NG_016339.1:g.16754G>A
NG_016339.2:g.16754G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2112C>T MANE Select ENSP00000295987.7:p.Ser704=
ENST00000340666.5:c.*64C>T ENSP00000343206.4:n.*64C>T
ENST00000640721.1:c.162C>T ENSP00000492857.1:p.Ser54=
ENST00000295987.11:c.2112C>T ENSP00000295987.7:p.Ser704=
ENST00000340666.4:c.*64C>T ENSP00000343206.4:n.*64C>T
NM_006950.3:c.2112C>T MANE Select NP_008881.2:p.Ser704=
NM_133499.2:c.*64C>T NP_598006.1:n.*64C>T
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