Canonical Allele Identifier: CA641900932

Gene: SYN1

Linked Data

• dbSNP Id: rs1263218259
• gnomAD v2: X-47434212-G-GT
• gnomAD v3: X-47574813-G-GT
• gnomAD v4: X-47574813-G-GT
• MyVariant Identifiers: chrX:g.47434212_47434213insT (hg19) ; chrX:g.47574813_47574814insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574815dup , CM000685.2:g.47574815dup	GRCh38
NC_000023.10:g.47434214dup , CM000685.1:g.47434214dup	GRCh37
NC_000023.9:g.47319158dup	NCBI36
NG_008437.1:g.50044dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1306-39dup MANE Select	ENSP00000295987.7:n.1306-39dup
ENST00000340666.5:c.1306-39dup	ENSP00000343206.4:n.1306-39dup
ENST00000295987.11:c.1306-39dup	ENSP00000295987.7:n.1306-39dup
ENST00000340666.4:c.1306-39dup	ENSP00000343206.4:n.1306-39dup
NM_006950.3:c.1306-39dup MANE Select	NP_008881.2:n.1306-39dup
NM_133499.2:c.1306-39dup	NP_598006.1:n.1306-39dup