Canonical Allele Identifier: CA515990956
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432365A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572966A>G , CM000685.2:g.47572966A>G GRCh38
NC_000023.10:g.47432365A>G , CM000685.1:g.47432365A>G GRCh37
NC_000023.9:g.47317309A>G NCBI36
NG_008437.1:g.51892T>C
NG_016339.1:g.16850A>G
NG_016339.2:g.16850A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2016T>C MANE Select ENSP00000295987.7:p.Leu672=
ENST00000340666.5:c.1983-5T>C ENSP00000343206.4:n.1983-5T>C
ENST00000640721.1:c.71-5T>C ENSP00000492857.1:n.71-5T>C
ENST00000295987.11:c.2016T>C ENSP00000295987.7:p.Leu672=
ENST00000340666.4:c.1983-5T>C ENSP00000343206.4:n.1983-5T>C
NM_006950.3:c.2016T>C MANE Select NP_008881.2:p.Leu672=
NM_133499.2:c.1983-5T>C NP_598006.1:n.1983-5T>C
Search 100 bp 5'
Search 100 bp 3'