Canonical Allele Identifier: CA329046241

Gene: SYN1

Linked Data

• dbSNP Id: rs2070584
• gnomAD v2: X-47446519-T-G
• gnomAD v3: X-47587120-T-G
• gnomAD v4: X-47587120-T-G
• MyVariant Identifiers: chrX:g.47446519T>G (hg19) ; chrX:g.47587120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47587120T>G , CM000685.2:g.47587120T>G	GRCh38
NC_000023.10:g.47446519T>G , CM000685.1:g.47446519T>G	GRCh37
NC_000023.9:g.47331463T>G	NCBI36
NG_008437.1:g.37738A>C
NG_012533.1:g.9830T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295987.13:c.775-9619A>C MANE Select	ENSP00000295987.7:n.775-9619A>C
ENST00000340666.5:c.775-9619A>C	ENSP00000343206.4:n.775-9619A>C
ENST00000295987.11:c.775-9619A>C	ENSP00000295987.7:n.775-9619A>C
ENST00000340666.4:c.775-9619A>C	ENSP00000343206.4:n.775-9619A>C
NM_006950.3:c.775-9619A>C MANE Select	NP_008881.2:n.775-9619A>C
NM_133499.2:c.775-9619A>C	NP_598006.1:n.775-9619A>C