Canonical Allele Identifier: CA412820529

Gene: SYN1

Linked Data

• dbSNP Id: rs1448698813
• gnomAD v4: X-47572940-C-T
• MyVariant Identifiers: chrX:g.47432339C>T (hg19) ; chrX:g.47572940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572940C>T , CM000685.2:g.47572940C>T	GRCh38
NC_000023.10:g.47432339C>T , CM000685.1:g.47432339C>T	GRCh37
NC_000023.9:g.47317283C>T	NCBI36
NG_008437.1:g.51918G>A
NG_016339.1:g.16824C>T
NG_016339.2:g.16824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.2042G>A MANE Select	ENSP00000295987.7:p.Ser681Asn
ENST00000340666.5:c.2004G>A	ENSP00000343206.4:p.Gln668=
ENST00000640721.1:c.92G>A	ENSP00000492857.1:p.Ser31Asn
ENST00000295987.11:c.2042G>A	ENSP00000295987.7:p.Ser681Asn
ENST00000340666.4:c.2004G>A	ENSP00000343206.4:p.Gln668=
NM_006950.3:c.2042G>A MANE Select	NP_008881.2:p.Ser681Asn
NM_133499.2:c.2004G>A	NP_598006.1:p.Gln668=