Canonical Allele Identifier: CA1132899628
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs2057835749
gnomAD v3: X-47588586-C-T
gnomAD v4: X-47588586-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47588586C>T , CM000685.2:g.47588586C>T GRCh38
NC_000023.10:g.47447985C>T , CM000685.1:g.47447985C>T GRCh37
NC_000023.9:g.47332929C>T NCBI36
NG_008437.1:g.36272G>A
NG_012533.1:g.11296C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.775-11085G>A MANE Select ENSP00000295987.7:n.775-11085G>A
ENST00000340666.5:c.775-11085G>A ENSP00000343206.4:n.775-11085G>A
ENST00000295987.11:c.775-11085G>A ENSP00000295987.7:n.775-11085G>A
ENST00000340666.4:c.775-11085G>A ENSP00000343206.4:n.775-11085G>A
NM_006950.3:c.775-11085G>A MANE Select NP_008881.2:n.775-11085G>A
NM_133499.2:c.775-11085G>A NP_598006.1:n.775-11085G>A