Canonical Allele Identifier: CA155310

Gene: SYN1

Linked Data

• ClinVar Variation Id: 130386
• ClinVar RCV Id: RCV000118426 ; RCV000713564 ; RCV000716489 ; RCV001085822
• dbSNP Id: rs62636605
• ExAC: X:47435965 G / A
• gnomAD v2: X-47435965-G-A
• gnomAD v3: X-47576566-G-A
• gnomAD v4: X-47576566-G-A
• MyVariant Identifiers: chrX:g.47435965G>A (hg19) ; chrX:g.47576566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47576566G>A , CM000685.2:g.47576566G>A	GRCh38
NC_000023.10:g.47435965G>A , CM000685.1:g.47435965G>A	GRCh37
NC_000023.9:g.47320909G>A	NCBI36
NG_008437.1:g.48292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.912C>T MANE Select	ENSP00000295987.7:p.Ala304=
ENST00000340666.5:c.912C>T	ENSP00000343206.4:p.Ala304=
ENST00000295987.11:c.912C>T	ENSP00000295987.7:p.Ala304=
ENST00000340666.4:c.912C>T	ENSP00000343206.4:p.Ala304=
NM_006950.3:c.912C>T MANE Select	NP_008881.2:p.Ala304=
NM_133499.2:c.912C>T	NP_598006.1:p.Ala304=