Canonical Allele Identifier: CA318931
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207464
ClinVar RCV Id: RCV000189647 RCV000525029 RCV002317657
dbSNP Id: rs199844514
ExAC: X:47433415 C / T
gnomAD v2: X-47433415-C-T
gnomAD v3: X-47574016-C-T
gnomAD v4: X-47574016-C-T
MyVariant Identifiers: chrX:g.47433415C>T (hg19) chrX:g.47574016C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574016C>T , CM000685.2:g.47574016C>T GRCh38
NC_000023.10:g.47433415C>T , CM000685.1:g.47433415C>T GRCh37
NC_000023.9:g.47318359C>T NCBI36
NG_008437.1:g.50842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1968G>A MANE Select ENSP00000295987.7:p.Pro656=
ENST00000340666.5:c.1968G>A ENSP00000343206.4:p.Pro656=
ENST00000640721.1:c.70+672G>A ENSP00000492857.1:n.70+672G>A
ENST00000295987.11:c.1968G>A ENSP00000295987.7:p.Pro656=
ENST00000340666.4:c.1968G>A ENSP00000343206.4:p.Pro656=
NM_006950.3:c.1968G>A MANE Select NP_008881.2:p.Pro656=
NM_133499.2:c.1968G>A NP_598006.1:p.Pro656=
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