Canonical Allele Identifier: CA515992333
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs1429311891
gnomAD v2: X-47435530-C-T
gnomAD v4: X-47576131-C-T
MyVariant Identifiers: chrX:g.47435530C>T (hg19) chrX:g.47576131C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576131C>T , CM000685.2:g.47576131C>T GRCh38
NC_000023.10:g.47435530C>T , CM000685.1:g.47435530C>T GRCh37
NC_000023.9:g.47320474C>T NCBI36
NG_008437.1:g.48727G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1158G>A MANE Select ENSP00000295987.7:p.Glu386=
ENST00000340666.5:c.1158G>A ENSP00000343206.4:p.Glu386=
ENST00000295987.11:c.1158G>A ENSP00000295987.7:p.Glu386=
ENST00000340666.4:c.1158G>A ENSP00000343206.4:p.Glu386=
NM_006950.3:c.1158G>A MANE Select NP_008881.2:p.Glu386=
NM_133499.2:c.1158G>A NP_598006.1:p.Glu386=
Search 100 bp 5'
Search 100 bp 3'