Canonical Allele Identifier: CA412824121
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574561-G-C
MyVariant Identifiers: chrX:g.47433960G>C (hg19) chrX:g.47574561G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574561G>C , CM000685.2:g.47574561G>C GRCh38
NC_000023.10:g.47433960G>C , CM000685.1:g.47433960G>C GRCh37
NC_000023.9:g.47318904G>C NCBI36
NG_008437.1:g.50297C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1423C>G MANE Select ENSP00000295987.7:p.Gln475Glu
ENST00000340666.5:c.1423C>G ENSP00000343206.4:p.Gln475Glu
ENST00000640721.1:c.70+127C>G ENSP00000492857.1:n.70+127C>G
ENST00000295987.11:c.1423C>G ENSP00000295987.7:p.Gln475Glu
ENST00000340666.4:c.1423C>G ENSP00000343206.4:p.Gln475Glu
NM_006950.3:c.1423C>G MANE Select NP_008881.2:p.Gln475Glu
NM_133499.2:c.1423C>G NP_598006.1:p.Gln475Glu
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