Canonical Allele Identifier: CA329056884

Gene: SYN1

Linked Data

• dbSNP Id: rs1019415087
• gnomAD v2: X-47432619-C-T
• gnomAD v3: X-47573220-C-T
• gnomAD v4: X-47573220-C-T
• MyVariant Identifiers: chrX:g.47432619C>T (hg19) ; chrX:g.47573220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573220C>T , CM000685.2:g.47573220C>T	GRCh38
NC_000023.10:g.47432619C>T , CM000685.1:g.47432619C>T	GRCh37
NC_000023.9:g.47317563C>T	NCBI36
NG_008437.1:g.51638G>A
NG_016339.1:g.17104C>T
NG_016339.2:g.17104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-221G>A MANE Select	ENSP00000295987.7:n.1983-221G>A
ENST00000340666.5:c.1983-259G>A	ENSP00000343206.4:n.1983-259G>A
ENST00000640721.1:c.71-259G>A	ENSP00000492857.1:n.71-259G>A
ENST00000295987.11:c.1983-221G>A	ENSP00000295987.7:n.1983-221G>A
ENST00000340666.4:c.1983-259G>A	ENSP00000343206.4:n.1983-259G>A
NM_006950.3:c.1983-221G>A MANE Select	NP_008881.2:n.1983-221G>A
NM_133499.2:c.1983-259G>A	NP_598006.1:n.1983-259G>A