Canonical Allele Identifier: CA515991106

Gene: SYN1

Linked Data

• ClinVar Variation Id: 1087808
• ClinVar RCV Id: RCV001406086 ; RCV001713085
• dbSNP Id: rs1302222032
• gnomAD v3: X-47574529-C-T
• gnomAD v4: X-47574529-C-T
• MyVariant Identifiers: chrX:g.47433928C>T (hg19) ; chrX:g.47574529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574529C>T , CM000685.2:g.47574529C>T	GRCh38
NC_000023.10:g.47433928C>T , CM000685.1:g.47433928C>T	GRCh37
NC_000023.9:g.47318872C>T	NCBI36
NG_008437.1:g.50329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1455G>A MANE Select	ENSP00000295987.7:p.Pro485=
ENST00000340666.5:c.1455G>A	ENSP00000343206.4:p.Pro485=
ENST00000640721.1:c.70+159G>A	ENSP00000492857.1:n.70+159G>A
ENST00000295987.11:c.1455G>A	ENSP00000295987.7:p.Pro485=
ENST00000340666.4:c.1455G>A	ENSP00000343206.4:p.Pro485=
NM_006950.3:c.1455G>A MANE Select	NP_008881.2:p.Pro485=
NM_133499.2:c.1455G>A	NP_598006.1:p.Pro485=