Canonical Allele Identifier: CA412820193
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432263T>C (hg19) chrX:g.47572864T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572864T>C , CM000685.2:g.47572864T>C GRCh38
NC_000023.10:g.47432263T>C , CM000685.1:g.47432263T>C GRCh37
NC_000023.9:g.47317207T>C NCBI36
NG_008437.1:g.51994A>G
NG_016339.1:g.16748T>C
NG_016339.2:g.16748T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2118A>G MANE Select ENSP00000295987.7:p.Ter706Trp
ENST00000340666.5:c.*70A>G ENSP00000343206.4:n.*70A>G
ENST00000640721.1:c.168A>G ENSP00000492857.1:p.Ter56Trp
ENST00000295987.11:c.2118A>G ENSP00000295987.7:p.Ter706Trp
ENST00000340666.4:c.*70A>G ENSP00000343206.4:n.*70A>G
NM_006950.3:c.2118A>G MANE Select NP_008881.2:p.Ter706Trp
NM_133499.2:c.*70A>G NP_598006.1:n.*70A>G
Search 100 bp 5'
Search 100 bp 3'