Canonical Allele Identifier: CA10398414

Gene: SYN1

Linked Data

• ClinVar Variation Id: 465085
• ClinVar RCV Id: RCV000531773 ; RCV001821548 ; RCV002413528
• dbSNP Id: rs191822319
• ExAC: X:47435625 G / A
• gnomAD v2: X-47435625-G-A
• gnomAD v3: X-47576226-G-A
• gnomAD v4: X-47576226-G-A
• MyVariant Identifiers: chrX:g.47435625G>A (hg19) ; chrX:g.47576226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47576226G>A , CM000685.2:g.47576226G>A	GRCh38
NC_000023.10:g.47435625G>A , CM000685.1:g.47435625G>A	GRCh37
NC_000023.9:g.47320569G>A	NCBI36
NG_008437.1:g.48632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1063C>T MANE Select	ENSP00000295987.7:p.Leu355=
ENST00000340666.5:c.1063C>T	ENSP00000343206.4:p.Leu355=
ENST00000295987.11:c.1063C>T	ENSP00000295987.7:p.Leu355=
ENST00000340666.4:c.1063C>T	ENSP00000343206.4:p.Leu355=
NM_006950.3:c.1063C>T MANE Select	NP_008881.2:p.Leu355=
NM_133499.2:c.1063C>T	NP_598006.1:p.Leu355=