Canonical Allele Identifier: CA515990900
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432269G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572870G>T , CM000685.2:g.47572870G>T GRCh38
NC_000023.10:g.47432269G>T , CM000685.1:g.47432269G>T GRCh37
NC_000023.9:g.47317213G>T NCBI36
NG_008437.1:g.51988C>A
NG_016339.1:g.16754G>T
NG_016339.2:g.16754G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2112C>A MANE Select ENSP00000295987.7:p.Ser704=
ENST00000340666.5:c.*64C>A ENSP00000343206.4:n.*64C>A
ENST00000640721.1:c.162C>A ENSP00000492857.1:p.Ser54=
ENST00000295987.11:c.2112C>A ENSP00000295987.7:p.Ser704=
ENST00000340666.4:c.*64C>A ENSP00000343206.4:n.*64C>A
NM_006950.3:c.2112C>A MANE Select NP_008881.2:p.Ser704=
NM_133499.2:c.*64C>A NP_598006.1:n.*64C>A
Search 100 bp 5'
Search 100 bp 3'