Canonical Allele Identifier: CA412826127
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47435539G>C (hg19) chrX:g.47576140G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576140G>C , CM000685.2:g.47576140G>C GRCh38
NC_000023.10:g.47435539G>C , CM000685.1:g.47435539G>C GRCh37
NC_000023.9:g.47320483G>C NCBI36
NG_008437.1:g.48718C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1149C>G MANE Select ENSP00000295987.7:p.His383Gln
ENST00000340666.5:c.1149C>G ENSP00000343206.4:p.His383Gln
ENST00000295987.11:c.1149C>G ENSP00000295987.7:p.His383Gln
ENST00000340666.4:c.1149C>G ENSP00000343206.4:p.His383Gln
NM_006950.3:c.1149C>G MANE Select NP_008881.2:p.His383Gln
NM_133499.2:c.1149C>G NP_598006.1:p.His383Gln
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