Canonical Allele Identifier: CA10398344
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2581698
ClinVar RCV Id: RCV003330474
dbSNP Id: rs768643160
ExAC: X:47433458 T / C
gnomAD v2: X-47433458-T-C
gnomAD v4: X-47574059-T-C
MyVariant Identifiers: chrX:g.47433458T>C (hg19) chrX:g.47574059T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574059T>C , CM000685.2:g.47574059T>C GRCh38
NC_000023.10:g.47433458T>C , CM000685.1:g.47433458T>C GRCh37
NC_000023.9:g.47318402T>C NCBI36
NG_008437.1:g.50799A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1925A>G MANE Select ENSP00000295987.7:p.Gln642Arg
ENST00000340666.5:c.1925A>G ENSP00000343206.4:p.Gln642Arg
ENST00000640721.1:c.70+629A>G ENSP00000492857.1:n.70+629A>G
ENST00000295987.11:c.1925A>G ENSP00000295987.7:p.Gln642Arg
ENST00000340666.4:c.1925A>G ENSP00000343206.4:p.Gln642Arg
NM_006950.3:c.1925A>G MANE Select NP_008881.2:p.Gln642Arg
NM_133499.2:c.1925A>G NP_598006.1:p.Gln642Arg
Search 100 bp 5'
Search 100 bp 3'