Canonical Allele Identifier: CA641483656

Gene: SYN1

Linked Data

• dbSNP Id: rs1340371605
• gnomAD v2: X-47432666-G-C
• gnomAD v3: X-47573267-G-C
• gnomAD v4: X-47573267-G-C
• MyVariant Identifiers: chrX:g.47432666G>C (hg19) ; chrX:g.47573267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573267G>C , CM000685.2:g.47573267G>C	GRCh38
NC_000023.10:g.47432666G>C , CM000685.1:g.47432666G>C	GRCh37
NC_000023.9:g.47317610G>C	NCBI36
NG_008437.1:g.51591C>G
NG_016339.1:g.17151G>C
NG_016339.2:g.17151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-268C>G MANE Select	ENSP00000295987.7:n.1983-268C>G
ENST00000340666.5:c.1983-306C>G	ENSP00000343206.4:n.1983-306C>G
ENST00000640721.1:c.71-306C>G	ENSP00000492857.1:n.71-306C>G
ENST00000295987.11:c.1983-268C>G	ENSP00000295987.7:n.1983-268C>G
ENST00000340666.4:c.1983-306C>G	ENSP00000343206.4:n.1983-306C>G
NM_006950.3:c.1983-268C>G MANE Select	NP_008881.2:n.1983-268C>G
NM_133499.2:c.1983-306C>G	NP_598006.1:n.1983-306C>G