Canonical Allele Identifier: CA516353313
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47433490A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574091A>C , CM000685.2:g.47574091A>C GRCh38
NC_000023.10:g.47433490A>C , CM000685.1:g.47433490A>C GRCh37
NC_000023.9:g.47318434A>C NCBI36
NG_008437.1:g.50767T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1893T>G MANE Select ENSP00000295987.7:p.Arg631=
ENST00000340666.5:c.1893T>G ENSP00000343206.4:p.Arg631=
ENST00000640721.1:c.70+597T>G ENSP00000492857.1:n.70+597T>G
ENST00000295987.11:c.1893T>G ENSP00000295987.7:p.Arg631=
ENST00000340666.4:c.1893T>G ENSP00000343206.4:p.Arg631=
NM_006950.3:c.1893T>G MANE Select NP_008881.2:p.Arg631=
NM_133499.2:c.1893T>G NP_598006.1:p.Arg631=