Canonical Allele Identifier: CA412824202
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574570-G-T
MyVariant Identifiers: chrX:g.47433969G>T (hg19) chrX:g.47574570G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574570G>T , CM000685.2:g.47574570G>T GRCh38
NC_000023.10:g.47433969G>T , CM000685.1:g.47433969G>T GRCh37
NC_000023.9:g.47318913G>T NCBI36
NG_008437.1:g.50288C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1414C>A MANE Select ENSP00000295987.7:p.Pro472Thr
ENST00000340666.5:c.1414C>A ENSP00000343206.4:p.Pro472Thr
ENST00000640721.1:c.70+118C>A ENSP00000492857.1:n.70+118C>A
ENST00000295987.11:c.1414C>A ENSP00000295987.7:p.Pro472Thr
ENST00000340666.4:c.1414C>A ENSP00000343206.4:p.Pro472Thr
NM_006950.3:c.1414C>A MANE Select NP_008881.2:p.Pro472Thr
NM_133499.2:c.1414C>A NP_598006.1:p.Pro472Thr
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