Canonical Allele Identifier: CA2580101022

Gene: SYN1

Linked Data

• ClinVar Variation Id: 1700046
• ClinVar RCV Id: RCV002508170

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574256del , CM000685.2:g.47574256del	GRCh38
NC_000023.10:g.47433655del , CM000685.1:g.47433655del	GRCh37
NC_000023.9:g.47318599del	NCBI36
NG_008437.1:g.50603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1729del MANE Select	ENSP00000295987.7:p.Ala577ProfsTer?
ENST00000340666.5:c.1729del	ENSP00000343206.4:p.Ala577ProfsTer?
ENST00000640721.1:c.70+433del	ENSP00000492857.1:n.70+433del
ENST00000295987.11:c.1729del	ENSP00000295987.7:p.Ala577ProfsTer?
ENST00000340666.4:c.1729del	ENSP00000343206.4:p.Ala577ProfsTer?
NM_006950.3:c.1729del MANE Select	NP_008881.2:p.Ala577ProfsTer?
NM_133499.2:c.1729del	NP_598006.1:p.Ala577ProfsTer?