Canonical Allele Identifier: CA875829548
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs1285361004
gnomAD v3: X-47588388-T-C
gnomAD v4: X-47588388-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47588388T>C , CM000685.2:g.47588388T>C GRCh38
NC_000023.10:g.47447787T>C , CM000685.1:g.47447787T>C GRCh37
NC_000023.9:g.47332731T>C NCBI36
NG_008437.1:g.36470A>G
NG_012533.1:g.11098T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.775-10887A>G MANE Select ENSP00000295987.7:n.775-10887A>G
ENST00000340666.5:c.775-10887A>G ENSP00000343206.4:n.775-10887A>G
ENST00000295987.11:c.775-10887A>G ENSP00000295987.7:n.775-10887A>G
ENST00000340666.4:c.775-10887A>G ENSP00000343206.4:n.775-10887A>G
NM_006950.3:c.775-10887A>G MANE Select NP_008881.2:n.775-10887A>G
NM_133499.2:c.775-10887A>G NP_598006.1:n.775-10887A>G