Canonical Allele Identifier: CA412821979
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2013817
ClinVar RCV Id: RCV002829691
gnomAD v4: X-47574008-T-C
MyVariant Identifiers: chrX:g.47433407T>C (hg19) chrX:g.47574008T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574008T>C , CM000685.2:g.47574008T>C GRCh38
NC_000023.10:g.47433407T>C , CM000685.1:g.47433407T>C GRCh37
NC_000023.9:g.47318351T>C NCBI36
NG_008437.1:g.50850A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1976A>G MANE Select ENSP00000295987.7:p.Gln659Arg
ENST00000340666.5:c.1976A>G ENSP00000343206.4:p.Gln659Arg
ENST00000640721.1:c.70+680A>G ENSP00000492857.1:n.70+680A>G
ENST00000295987.11:c.1976A>G ENSP00000295987.7:p.Gln659Arg
ENST00000340666.4:c.1976A>G ENSP00000343206.4:p.Gln659Arg
NM_006950.3:c.1976A>G MANE Select NP_008881.2:p.Gln659Arg
NM_133499.2:c.1976A>G NP_598006.1:p.Gln659Arg
Search 100 bp 5'
Search 100 bp 3'