Canonical Allele Identifier: CA641900874

Gene: SYN1

Linked Data

• gnomAD v2: X-47433700-TG-T
• gnomAD v4: X-47574301-TG-T
• MyVariant Identifiers: chrX:g.47433701del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574307del , CM000685.2:g.47574307del	GRCh38
NC_000023.10:g.47433706del , CM000685.1:g.47433706del	GRCh37
NC_000023.9:g.47318650del	NCBI36
NG_008437.1:g.50556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1682del MANE Select	ENSP00000295987.7:p.Pro561HisfsTer?
ENST00000340666.5:c.1682del	ENSP00000343206.4:p.Pro561HisfsTer?
ENST00000640721.1:c.70+386del	ENSP00000492857.1:n.70+386del
ENST00000295987.11:c.1682del	ENSP00000295987.7:p.Pro561HisfsTer?
ENST00000340666.4:c.1682del	ENSP00000343206.4:p.Pro561HisfsTer?
NM_006950.3:c.1682del MANE Select	NP_008881.2:p.Pro561HisfsTer?
NM_133499.2:c.1682del	NP_598006.1:p.Pro561HisfsTer?