Canonical Allele Identifier: CA318970
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207477
ClinVar RCV Id: RCV000189662 RCV000766094
dbSNP Id: rs749342768
ExAC: X:47433422 C / T
gnomAD v2: X-47433422-C-T
gnomAD v3: X-47574023-C-T
gnomAD v4: X-47574023-C-T
MyVariant Identifiers: chrX:g.47433422C>T (hg19) chrX:g.47574023C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574023C>T , CM000685.2:g.47574023C>T GRCh38
NC_000023.10:g.47433422C>T , CM000685.1:g.47433422C>T GRCh37
NC_000023.9:g.47318366C>T NCBI36
NG_008437.1:g.50835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1961G>A MANE Select ENSP00000295987.7:p.Gly654Glu
ENST00000340666.5:c.1961G>A ENSP00000343206.4:p.Gly654Glu
ENST00000640721.1:c.70+665G>A ENSP00000492857.1:n.70+665G>A
ENST00000295987.11:c.1961G>A ENSP00000295987.7:p.Gly654Glu
ENST00000340666.4:c.1961G>A ENSP00000343206.4:p.Gly654Glu
NM_006950.3:c.1961G>A MANE Select NP_008881.2:p.Gly654Glu
NM_133499.2:c.1961G>A NP_598006.1:p.Gly654Glu
Search 100 bp 5'
Search 100 bp 3'