Canonical Allele Identifier: CA412820490
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47572933-G-C
MyVariant Identifiers: chrX:g.47432332G>C (hg19) chrX:g.47572933G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572933G>C , CM000685.2:g.47572933G>C GRCh38
NC_000023.10:g.47432332G>C , CM000685.1:g.47432332G>C GRCh37
NC_000023.9:g.47317276G>C NCBI36
NG_008437.1:g.51925C>G
NG_016339.1:g.16817G>C
NG_016339.2:g.16817G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2049C>G MANE Select ENSP00000295987.7:p.Ser683Arg
ENST00000340666.5:c.*1C>G ENSP00000343206.4:n.*1C>G
ENST00000640721.1:c.99C>G ENSP00000492857.1:p.Ser33Arg
ENST00000295987.11:c.2049C>G ENSP00000295987.7:p.Ser683Arg
ENST00000340666.4:c.*1C>G ENSP00000343206.4:n.*1C>G
NM_006950.3:c.2049C>G MANE Select NP_008881.2:p.Ser683Arg
NM_133499.2:c.*1C>G NP_598006.1:n.*1C>G
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