Canonical Allele Identifier: CA412820422
Gene: SYN1 HGNC NCBI

Linked Data

COSMIC: COSM1756589
MyVariant Identifiers: chrX:g.47432313C>G (hg19) chrX:g.47572914C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572914C>G , CM000685.2:g.47572914C>G GRCh38
NC_000023.10:g.47432313C>G , CM000685.1:g.47432313C>G GRCh37
NC_000023.9:g.47317257C>G NCBI36
NG_008437.1:g.51944G>C
NG_016339.1:g.16798C>G
NG_016339.2:g.16798C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2068G>C MANE Select ENSP00000295987.7:p.Glu690Gln
ENST00000340666.5:c.*20G>C ENSP00000343206.4:n.*20G>C
ENST00000640721.1:c.118G>C ENSP00000492857.1:p.Glu40Gln
ENST00000295987.11:c.2068G>C ENSP00000295987.7:p.Glu690Gln
ENST00000340666.4:c.*20G>C ENSP00000343206.4:n.*20G>C
NM_006950.3:c.2068G>C MANE Select NP_008881.2:p.Glu690Gln
NM_133499.2:c.*20G>C NP_598006.1:n.*20G>C
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