Canonical Allele Identifier: CA412820650
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007809
ClinVar RCV Id: RCV001305048
dbSNP Id: rs2057764675
gnomAD v3: X-47572959-G-A
gnomAD v4: X-47572959-G-A
MyVariant Identifiers: chrX:g.47432358G>A (hg19) chrX:g.47572959G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572959G>A , CM000685.2:g.47572959G>A GRCh38
NC_000023.10:g.47432358G>A , CM000685.1:g.47432358G>A GRCh37
NC_000023.9:g.47317302G>A NCBI36
NG_008437.1:g.51899C>T
NG_016339.1:g.16843G>A
NG_016339.2:g.16843G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2023C>T MANE Select ENSP00000295987.7:p.Pro675Ser
ENST00000340666.5:c.1985C>T ENSP00000343206.4:p.Ala662Val
ENST00000640721.1:c.73C>T ENSP00000492857.1:p.Pro25Ser
ENST00000295987.11:c.2023C>T ENSP00000295987.7:p.Pro675Ser
ENST00000340666.4:c.1985C>T ENSP00000343206.4:p.Ala662Val
NM_006950.3:c.2023C>T MANE Select NP_008881.2:p.Pro675Ser
NM_133499.2:c.1985C>T NP_598006.1:p.Ala662Val
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