Canonical Allele Identifier: CA412823930
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574533-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574533C>T , CM000685.2:g.47574533C>T GRCh38
NC_000023.10:g.47433932C>T , CM000685.1:g.47433932C>T GRCh37
NC_000023.9:g.47318876C>T NCBI36
NG_008437.1:g.50325G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1451G>A MANE Select ENSP00000295987.7:p.Arg484His
ENST00000340666.5:c.1451G>A ENSP00000343206.4:p.Arg484His
ENST00000640721.1:c.70+155G>A ENSP00000492857.1:n.70+155G>A
ENST00000295987.11:c.1451G>A ENSP00000295987.7:p.Arg484His
ENST00000340666.4:c.1451G>A ENSP00000343206.4:p.Arg484His
NM_006950.3:c.1451G>A MANE Select NP_008881.2:p.Arg484His
NM_133499.2:c.1451G>A NP_598006.1:p.Arg484His