Canonical Allele Identifier: CA2580101031
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2066353
ClinVar RCV Id: RCV002934019
gnomAD v4: X-47574780-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574780G>A , CM000685.2:g.47574780G>A GRCh38
NC_000023.10:g.47434179G>A , CM000685.1:g.47434179G>A GRCh37
NC_000023.9:g.47319123G>A NCBI36
NG_008437.1:g.50078C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1306-5C>T MANE Select ENSP00000295987.7:n.1306-5C>T
ENST00000340666.5:c.1306-5C>T ENSP00000343206.4:n.1306-5C>T
ENST00000295987.11:c.1306-5C>T ENSP00000295987.7:n.1306-5C>T
ENST00000340666.4:c.1306-5C>T ENSP00000343206.4:n.1306-5C>T
NM_006950.3:c.1306-5C>T MANE Select NP_008881.2:n.1306-5C>T
NM_133499.2:c.1306-5C>T NP_598006.1:n.1306-5C>T
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