Canonical Allele Identifier: CA412822555
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs2057769520
gnomAD v4: X-47574191-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574191G>A , CM000685.2:g.47574191G>A GRCh38
NC_000023.10:g.47433590G>A , CM000685.1:g.47433590G>A GRCh37
NC_000023.9:g.47318534G>A NCBI36
NG_008437.1:g.50667C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1793C>T MANE Select ENSP00000295987.7:p.Ala598Val
ENST00000340666.5:c.1793C>T ENSP00000343206.4:p.Ala598Val
ENST00000640721.1:c.70+497C>T ENSP00000492857.1:n.70+497C>T
ENST00000295987.11:c.1793C>T ENSP00000295987.7:p.Ala598Val
ENST00000340666.4:c.1793C>T ENSP00000343206.4:p.Ala598Val
NM_006950.3:c.1793C>T MANE Select NP_008881.2:p.Ala598Val
NM_133499.2:c.1793C>T NP_598006.1:p.Ala598Val