Canonical Allele Identifier: CA515990935
Gene: SYN1 HGNC NCBI

Linked Data

COSMIC: COSM3992503
MyVariant Identifiers: chrX:g.47432308G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572909G>C , CM000685.2:g.47572909G>C GRCh38
NC_000023.10:g.47432308G>C , CM000685.1:g.47432308G>C GRCh37
NC_000023.9:g.47317252G>C NCBI36
NG_008437.1:g.51949C>G
NG_016339.1:g.16793G>C
NG_016339.2:g.16793G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2073C>G MANE Select ENSP00000295987.7:p.Thr691=
ENST00000340666.5:c.*25C>G ENSP00000343206.4:n.*25C>G
ENST00000640721.1:c.123C>G ENSP00000492857.1:p.Thr41=
ENST00000295987.11:c.2073C>G ENSP00000295987.7:p.Thr691=
ENST00000340666.4:c.*25C>G ENSP00000343206.4:n.*25C>G
NM_006950.3:c.2073C>G MANE Select NP_008881.2:p.Thr691=
NM_133499.2:c.*25C>G NP_598006.1:n.*25C>G
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