Canonical Allele Identifier: CA10398328
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs762048360
ExAC: X:47432300 C / G
gnomAD v2: X-47432300-C-G
gnomAD v4: X-47572901-C-G
MyVariant Identifiers: chrX:g.47432300C>G (hg19) chrX:g.47572901C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572901C>G , CM000685.2:g.47572901C>G GRCh38
NC_000023.10:g.47432300C>G , CM000685.1:g.47432300C>G GRCh37
NC_000023.9:g.47317244C>G NCBI36
NG_008437.1:g.51957G>C
NG_016339.1:g.16785C>G
NG_016339.2:g.16785C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2081G>C MANE Select ENSP00000295987.7:p.Ser694Thr
ENST00000340666.5:c.*33G>C ENSP00000343206.4:n.*33G>C
ENST00000640721.1:c.131G>C ENSP00000492857.1:p.Ser44Thr
ENST00000295987.11:c.2081G>C ENSP00000295987.7:p.Ser694Thr
ENST00000340666.4:c.*33G>C ENSP00000343206.4:n.*33G>C
NM_006950.3:c.2081G>C MANE Select NP_008881.2:p.Ser694Thr
NM_133499.2:c.*33G>C NP_598006.1:n.*33G>C
Search 100 bp 5'
Search 100 bp 3'