Canonical Allele Identifier: CA2693585231

Gene: SYN1

Linked Data

• gnomAD v4: X-47574523-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574528dup , CM000685.2:g.47574528dup	GRCh38
NC_000023.10:g.47433927dup , CM000685.1:g.47433927dup	GRCh37
NC_000023.9:g.47318871dup	NCBI36
NG_008437.1:g.50334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1460dup MANE Select	ENSP00000295987.7:p.Gln488AlafsTer?
ENST00000340666.5:c.1460dup	ENSP00000343206.4:p.Gln488AlafsTer?
ENST00000640721.1:c.70+164dup	ENSP00000492857.1:n.70+164dup
ENST00000295987.11:c.1460dup	ENSP00000295987.7:p.Gln488AlafsTer?
ENST00000340666.4:c.1460dup	ENSP00000343206.4:p.Gln488AlafsTer?
NM_006950.3:c.1460dup MANE Select	NP_008881.2:p.Gln488AlafsTer?
NM_133499.2:c.1460dup	NP_598006.1:p.Gln488AlafsTer?