Canonical Allele Identifier: CA412822146
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574065-G-T
MyVariant Identifiers: chrX:g.47433464G>T (hg19) chrX:g.47574065G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574065G>T , CM000685.2:g.47574065G>T GRCh38
NC_000023.10:g.47433464G>T , CM000685.1:g.47433464G>T GRCh37
NC_000023.9:g.47318408G>T NCBI36
NG_008437.1:g.50793C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1919C>A MANE Select ENSP00000295987.7:p.Pro640His
ENST00000340666.5:c.1919C>A ENSP00000343206.4:p.Pro640His
ENST00000640721.1:c.70+623C>A ENSP00000492857.1:n.70+623C>A
ENST00000295987.11:c.1919C>A ENSP00000295987.7:p.Pro640His
ENST00000340666.4:c.1919C>A ENSP00000343206.4:p.Pro640His
NM_006950.3:c.1919C>A MANE Select NP_008881.2:p.Pro640His
NM_133499.2:c.1919C>A NP_598006.1:p.Pro640His
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