Canonical Allele Identifier: CA329056881

Gene: SYN1

Linked Data

• dbSNP Id: rs891860174
• gnomAD v3: X-47573180-A-G
• gnomAD v4: X-47573180-A-G
• MyVariant Identifiers: chrX:g.47432579A>G (hg19) ; chrX:g.47573180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573180A>G , CM000685.2:g.47573180A>G	GRCh38
NC_000023.10:g.47432579A>G , CM000685.1:g.47432579A>G	GRCh37
NC_000023.9:g.47317523A>G	NCBI36
NG_008437.1:g.51678T>C
NG_016339.1:g.17064A>G
NG_016339.2:g.17064A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-181T>C MANE Select	ENSP00000295987.7:n.1983-181T>C
ENST00000340666.5:c.1983-219T>C	ENSP00000343206.4:n.1983-219T>C
ENST00000640721.1:c.71-219T>C	ENSP00000492857.1:n.71-219T>C
ENST00000295987.11:c.1983-181T>C	ENSP00000295987.7:n.1983-181T>C
ENST00000340666.4:c.1983-219T>C	ENSP00000343206.4:n.1983-219T>C
NM_006950.3:c.1983-181T>C MANE Select	NP_008881.2:n.1983-181T>C
NM_133499.2:c.1983-219T>C	NP_598006.1:n.1983-219T>C