Canonical Allele Identifier: CA293844

Gene: SYN1

Linked Data

• ClinVar Variation Id: 139383
• ClinVar RCV Id: RCV000128352 ; RCV000727280 ; RCV001082665 ; RCV002399505
• dbSNP Id: rs587781185
• ExAC: X:47433814 C / T
• gnomAD v2: X-47433814-C-T
• gnomAD v3: X-47574415-C-T
• gnomAD v4: X-47574415-C-T
• MyVariant Identifiers: chrX:g.47433814C>T (hg19) ; chrX:g.47574415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574415C>T , CM000685.2:g.47574415C>T	GRCh38
NC_000023.10:g.47433814C>T , CM000685.1:g.47433814C>T	GRCh37
NC_000023.9:g.47318758C>T	NCBI36
NG_008437.1:g.50443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1569G>A MANE Select	ENSP00000295987.7:p.Ala523=
ENST00000340666.5:c.1569G>A	ENSP00000343206.4:p.Ala523=
ENST00000640721.1:c.70+273G>A	ENSP00000492857.1:n.70+273G>A
ENST00000295987.11:c.1569G>A	ENSP00000295987.7:p.Ala523=
ENST00000340666.4:c.1569G>A	ENSP00000343206.4:p.Ala523=
NM_006950.3:c.1569G>A MANE Select	NP_008881.2:p.Ala523=
NM_133499.2:c.1569G>A	NP_598006.1:p.Ala523=