Canonical Allele Identifier: CA10398322
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs375458979
ExAC: X:47432257 G / T
gnomAD v2: X-47432257-G-T
gnomAD v3: X-47572858-G-T
gnomAD v4: X-47572858-G-T
MyVariant Identifiers: chrX:g.47432257G>T (hg19) chrX:g.47572858G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572858G>T , CM000685.2:g.47572858G>T GRCh38
NC_000023.10:g.47432257G>T , CM000685.1:g.47432257G>T GRCh37
NC_000023.9:g.47317201G>T NCBI36
NG_008437.1:g.52000C>A
NG_016339.1:g.16742G>T
NG_016339.2:g.16742G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.*6C>A MANE Select ENSP00000295987.7:n.*6C>A
ENST00000340666.5:c.*76C>A ENSP00000343206.4:n.*76C>A
ENST00000640721.1:c.174C>A ENSP00000492857.1:n.174C>A
ENST00000295987.11:c.*6C>A ENSP00000295987.7:n.*6C>A
ENST00000340666.4:c.*76C>A ENSP00000343206.4:n.*76C>A
NM_006950.3:c.*6C>A MANE Select NP_008881.2:n.*6C>A
NM_133499.2:c.*76C>A NP_598006.1:n.*76C>A
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