Canonical Allele Identifier: CA329057259
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs397514680
gnomAD v4: X-47574336-C-G
MyVariant Identifiers: chrX:g.47433735C>G (hg19) chrX:g.47574336C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574336C>G , CM000685.2:g.47574336C>G GRCh38
NC_000023.10:g.47433735C>G , CM000685.1:g.47433735C>G GRCh37
NC_000023.9:g.47318679C>G NCBI36
NG_008437.1:g.50522G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1648G>C MANE Select ENSP00000295987.7:p.Ala550Pro
ENST00000340666.5:c.1648G>C ENSP00000343206.4:p.Ala550Pro
ENST00000640721.1:c.70+352G>C ENSP00000492857.1:n.70+352G>C
ENST00000295987.11:c.1648G>C ENSP00000295987.7:p.Ala550Pro
ENST00000340666.4:c.1648G>C ENSP00000343206.4:p.Ala550Pro
NM_006950.3:c.1648G>C MANE Select NP_008881.2:p.Ala550Pro
NM_133499.2:c.1648G>C NP_598006.1:p.Ala550Pro
Search 100 bp 5'
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