Canonical Allele Identifier: CA641900935

Gene: SYN1

Linked Data

• dbSNP Id: rs1166575515
• gnomAD v2: X-47434258-TG-T
• gnomAD v3: X-47574859-TG-T
• gnomAD v4: X-47574859-TG-T
• MyVariant Identifiers: chrX:g.47434259del (hg19) ; chrX:g.47574860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574860del , CM000685.2:g.47574860del	GRCh38
NC_000023.10:g.47434259del , CM000685.1:g.47434259del	GRCh37
NC_000023.9:g.47319203del	NCBI36
NG_008437.1:g.49998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1306-85del MANE Select	ENSP00000295987.7:n.1306-85del
ENST00000340666.5:c.1306-85del	ENSP00000343206.4:n.1306-85del
ENST00000295987.11:c.1306-85del	ENSP00000295987.7:n.1306-85del
ENST00000340666.4:c.1306-85del	ENSP00000343206.4:n.1306-85del
NM_006950.3:c.1306-85del MANE Select	NP_008881.2:n.1306-85del
NM_133499.2:c.1306-85del	NP_598006.1:n.1306-85del