Canonical Allele Identifier: CA641900863

Gene: SYN1

Linked Data

• dbSNP Id: rs1214246476
• gnomAD v2: X-47433579-GT-G
• MyVariant Identifiers: chrX:g.47433580del (hg19) ; chrX:g.47574181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574181del , CM000685.2:g.47574181del	GRCh38
NC_000023.10:g.47433580del , CM000685.1:g.47433580del	GRCh37
NC_000023.9:g.47318524del	NCBI36
NG_008437.1:g.50677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1803del MANE Select	ENSP00000295987.7:p.Arg602AlafsTer?
ENST00000340666.5:c.1803del	ENSP00000343206.4:p.Arg602AlafsTer?
ENST00000640721.1:c.70+507del	ENSP00000492857.1:n.70+507del
ENST00000295987.11:c.1803del	ENSP00000295987.7:p.Arg602AlafsTer?
ENST00000340666.4:c.1803del	ENSP00000343206.4:p.Arg602AlafsTer?
NM_006950.3:c.1803del MANE Select	NP_008881.2:p.Arg602AlafsTer?
NM_133499.2:c.1803del	NP_598006.1:p.Arg602AlafsTer?