Canonical Allele Identifier: CA412822019
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307134
ClinVar RCV Id: RCV001760552 RCV002032868 RCV002540304
dbSNP Id: rs1391622247
gnomAD v2: X-47433416-G-A
gnomAD v3: X-47574017-G-A
gnomAD v4: X-47574017-G-A
MyVariant Identifiers: chrX:g.47433416G>A (hg19) chrX:g.47574017G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574017G>A , CM000685.2:g.47574017G>A GRCh38
NC_000023.10:g.47433416G>A , CM000685.1:g.47433416G>A GRCh37
NC_000023.9:g.47318360G>A NCBI36
NG_008437.1:g.50841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1967C>T MANE Select ENSP00000295987.7:p.Pro656Leu
ENST00000340666.5:c.1967C>T ENSP00000343206.4:p.Pro656Leu
ENST00000640721.1:c.70+671C>T ENSP00000492857.1:n.70+671C>T
ENST00000295987.11:c.1967C>T ENSP00000295987.7:p.Pro656Leu
ENST00000340666.4:c.1967C>T ENSP00000343206.4:p.Pro656Leu
NM_006950.3:c.1967C>T MANE Select NP_008881.2:p.Pro656Leu
NM_133499.2:c.1967C>T NP_598006.1:p.Pro656Leu
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