Canonical Allele Identifier: CA412820199

Gene: SYN1

Linked Data

• gnomAD v4: X-47572865-C-A
• MyVariant Identifiers: chrX:g.47432264C>A (hg19) ; chrX:g.47572865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47572865C>A , CM000685.2:g.47572865C>A	GRCh38
NC_000023.10:g.47432264C>A , CM000685.1:g.47432264C>A	GRCh37
NC_000023.9:g.47317208C>A	NCBI36
NG_008437.1:g.51993G>T
NG_016339.1:g.16749C>A
NG_016339.2:g.16749C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295987.13:c.2117G>T MANE Select	ENSP00000295987.7:p.Ter706Leu
ENST00000340666.5:c.*69G>T	ENSP00000343206.4:n.*69G>T
ENST00000640721.1:c.167G>T	ENSP00000492857.1:p.Ter56Leu
ENST00000295987.11:c.2117G>T	ENSP00000295987.7:p.Ter706Leu
ENST00000340666.4:c.*69G>T	ENSP00000343206.4:n.*69G>T
NM_006950.3:c.2117G>T MANE Select	NP_008881.2:p.Ter706Leu
NM_133499.2:c.*69G>T	NP_598006.1:n.*69G>T