Canonical Allele Identifier: CA412820312
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432288G>C (hg19) chrX:g.47572889G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572889G>C , CM000685.2:g.47572889G>C GRCh38
NC_000023.10:g.47432288G>C , CM000685.1:g.47432288G>C GRCh37
NC_000023.9:g.47317232G>C NCBI36
NG_008437.1:g.51969C>G
NG_016339.1:g.16773G>C
NG_016339.2:g.16773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2093C>G MANE Select ENSP00000295987.7:p.Ser698Cys
ENST00000340666.5:c.*45C>G ENSP00000343206.4:n.*45C>G
ENST00000640721.1:c.143C>G ENSP00000492857.1:p.Ser48Cys
ENST00000295987.11:c.2093C>G ENSP00000295987.7:p.Ser698Cys
ENST00000340666.4:c.*45C>G ENSP00000343206.4:n.*45C>G
NM_006950.3:c.2093C>G MANE Select NP_008881.2:p.Ser698Cys
NM_133499.2:c.*45C>G NP_598006.1:n.*45C>G
Search 100 bp 5'
Search 100 bp 3'