Canonical Allele Identifier: CA329056805
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs369748341
gnomAD v2: X-47432268-C-T
gnomAD v3: X-47572869-C-T
gnomAD v4: X-47572869-C-T
MyVariant Identifiers: chrX:g.47432268C>T (hg19) chrX:g.47572869C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572869C>T , CM000685.2:g.47572869C>T GRCh38
NC_000023.10:g.47432268C>T , CM000685.1:g.47432268C>T GRCh37
NC_000023.9:g.47317212C>T NCBI36
NG_008437.1:g.51989G>A
NG_016339.1:g.16753C>T
NG_016339.2:g.16753C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2113G>A MANE Select ENSP00000295987.7:p.Asp705Asn
ENST00000340666.5:c.*65G>A ENSP00000343206.4:n.*65G>A
ENST00000640721.1:c.163G>A ENSP00000492857.1:p.Asp55Asn
ENST00000295987.11:c.2113G>A ENSP00000295987.7:p.Asp705Asn
ENST00000340666.4:c.*65G>A ENSP00000343206.4:n.*65G>A
NM_006950.3:c.2113G>A MANE Select NP_008881.2:p.Asp705Asn
NM_133499.2:c.*65G>A NP_598006.1:n.*65G>A
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