Canonical Allele Identifier: CA412822773
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047496
ClinVar RCV Id: RCV002904347
gnomAD v4: X-47574258-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574258T>C , CM000685.2:g.47574258T>C GRCh38
NC_000023.10:g.47433657T>C , CM000685.1:g.47433657T>C GRCh37
NC_000023.9:g.47318601T>C NCBI36
NG_008437.1:g.50600A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1726A>G MANE Select ENSP00000295987.7:p.Lys576Glu
ENST00000340666.5:c.1726A>G ENSP00000343206.4:p.Lys576Glu
ENST00000640721.1:c.70+430A>G ENSP00000492857.1:n.70+430A>G
ENST00000295987.11:c.1726A>G ENSP00000295987.7:p.Lys576Glu
ENST00000340666.4:c.1726A>G ENSP00000343206.4:p.Lys576Glu
NM_006950.3:c.1726A>G MANE Select NP_008881.2:p.Lys576Glu
NM_133499.2:c.1726A>G NP_598006.1:p.Lys576Glu