Canonical Allele Identifier: CA10398339
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931353
ClinVar RCV Id: RCV001197826
dbSNP Id: rs752321936
ExAC: X:47433391 G / T
gnomAD v2: X-47433391-G-T
gnomAD v4: X-47573992-G-T
MyVariant Identifiers: chrX:g.47433391G>T (hg19) chrX:g.47573992G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573992G>T , CM000685.2:g.47573992G>T GRCh38
NC_000023.10:g.47433391G>T , CM000685.1:g.47433391G>T GRCh37
NC_000023.9:g.47318335G>T NCBI36
NG_008437.1:g.50866C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1982+10C>A MANE Select ENSP00000295987.7:n.1982+10C>A
ENST00000340666.5:c.1982+10C>A ENSP00000343206.4:n.1982+10C>A
ENST00000640721.1:c.70+696C>A ENSP00000492857.1:n.70+696C>A
ENST00000295987.11:c.1982+10C>A ENSP00000295987.7:n.1982+10C>A
ENST00000340666.4:c.1982+10C>A ENSP00000343206.4:n.1982+10C>A
NM_006950.3:c.1982+10C>A MANE Select NP_008881.2:n.1982+10C>A
NM_133499.2:c.1982+10C>A NP_598006.1:n.1982+10C>A
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