Canonical Allele Identifier: CA658825023
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547077
ClinVar RCV Id: RCV000659157
dbSNP Id: rs1556857412
gnomAD v4: X-47574021-GT-G
MyVariant Identifiers: chrX:g.47433421del (hg19) chrX:g.47574022del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574022del , CM000685.2:g.47574022del GRCh38
NC_000023.10:g.47433421del , CM000685.1:g.47433421del GRCh37
NC_000023.9:g.47318365del NCBI36
NG_008437.1:g.50836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1962del MANE Select ENSP00000295987.7:p.Pro655LeufsTer12
ENST00000340666.5:c.1962del ENSP00000343206.4:p.Pro655LeufsTer?
ENST00000640721.1:c.70+666del ENSP00000492857.1:n.70+666del
ENST00000295987.11:c.1962del ENSP00000295987.7:p.Pro655LeufsTer12
ENST00000340666.4:c.1962del ENSP00000343206.4:p.Pro655LeufsTer?
NM_006950.3:c.1962del MANE Select NP_008881.2:p.Pro655LeufsTer12
NM_133499.2:c.1962del NP_598006.1:p.Pro655LeufsTer?
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