Canonical Allele Identifier: CA875821536
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2499135
ClinVar RCV Id: RCV003221436
dbSNP Id: rs1274863895
gnomAD v3: X-47576240-A-C
gnomAD v4: X-47576240-A-C
MyVariant Identifiers: chrX:g.47435639A>C (hg19) chrX:g.47576240A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576240A>C , CM000685.2:g.47576240A>C GRCh38
NC_000023.10:g.47435639A>C , CM000685.1:g.47435639A>C GRCh37
NC_000023.9:g.47320583A>C NCBI36
NG_008437.1:g.48618T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1056-7T>G MANE Select ENSP00000295987.7:n.1056-7T>G
ENST00000340666.5:c.1056-7T>G ENSP00000343206.4:n.1056-7T>G
ENST00000295987.11:c.1056-7T>G ENSP00000295987.7:n.1056-7T>G
ENST00000340666.4:c.1056-7T>G ENSP00000343206.4:n.1056-7T>G
NM_006950.3:c.1056-7T>G MANE Select NP_008881.2:n.1056-7T>G
NM_133499.2:c.1056-7T>G NP_598006.1:n.1056-7T>G
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