Canonical Allele Identifier: CA516353444

Gene: SYN1

Linked Data

• dbSNP Id: rs1556857435
• MyVariant Identifiers: chrX:g.47433585_47433587del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574186_47574188del , CM000685.2:g.47574186_47574188del	GRCh38
NC_000023.10:g.47433585_47433587del , CM000685.1:g.47433585_47433587del	GRCh37
NC_000023.9:g.47318529_47318531del	NCBI36
NG_008437.1:g.50670_50672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1796_1798del MANE Select	ENSP00000295987.7:p.Gly599_Pro600delinsAla
ENST00000340666.5:c.1796_1798del	ENSP00000343206.4:p.Gly599_Pro600delinsAla
ENST00000640721.1:c.70+500_70+502del	ENSP00000492857.1:n.70+500_70+502del
ENST00000295987.11:c.1796_1798del	ENSP00000295987.7:p.Gly599_Pro600delinsAla
ENST00000340666.4:c.1796_1798del	ENSP00000343206.4:p.Gly599_Pro600delinsAla
NM_006950.3:c.1796_1798del MANE Select	NP_008881.2:p.Gly599_Pro600delinsAla
NM_133499.2:c.1796_1798del	NP_598006.1:p.Gly599_Pro600delinsAla