Canonical Allele Identifier: CA515990978

Gene: SYN1

Linked Data

• dbSNP Id: rs1449904539
• gnomAD v4: X-47572993-G-C
• MyVariant Identifiers: chrX:g.47432392G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572993G>C , CM000685.2:g.47572993G>C	GRCh38
NC_000023.10:g.47432392G>C , CM000685.1:g.47432392G>C	GRCh37
NC_000023.9:g.47317336G>C	NCBI36
NG_008437.1:g.51865C>G
NG_016339.1:g.16877G>C
NG_016339.2:g.16877G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1989C>G MANE Select	ENSP00000295987.7:p.Ser663=
ENST00000340666.5:c.1983-32C>G	ENSP00000343206.4:n.1983-32C>G
ENST00000640721.1:c.71-32C>G	ENSP00000492857.1:n.71-32C>G
ENST00000295987.11:c.1989C>G	ENSP00000295987.7:p.Ser663=
ENST00000340666.4:c.1983-32C>G	ENSP00000343206.4:n.1983-32C>G
NM_006950.3:c.1989C>G MANE Select	NP_008881.2:p.Ser663=
NM_133499.2:c.1983-32C>G	NP_598006.1:n.1983-32C>G