Canonical Allele Identifier: CA412822109
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3044389
ClinVar RCV Id: RCV003939638
gnomAD v4: X-47574054-C-T
MyVariant Identifiers: chrX:g.47433453C>T (hg19) chrX:g.47574054C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574054C>T , CM000685.2:g.47574054C>T GRCh38
NC_000023.10:g.47433453C>T , CM000685.1:g.47433453C>T GRCh37
NC_000023.9:g.47318397C>T NCBI36
NG_008437.1:g.50804G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1930G>A MANE Select ENSP00000295987.7:p.Val644Met
ENST00000340666.5:c.1930G>A ENSP00000343206.4:p.Val644Met
ENST00000640721.1:c.70+634G>A ENSP00000492857.1:n.70+634G>A
ENST00000295987.11:c.1930G>A ENSP00000295987.7:p.Val644Met
ENST00000340666.4:c.1930G>A ENSP00000343206.4:p.Val644Met
NM_006950.3:c.1930G>A MANE Select NP_008881.2:p.Val644Met
NM_133499.2:c.1930G>A NP_598006.1:p.Val644Met
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