Canonical Allele Identifier: CA2427971325
Gene: SYN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574536T= , CM000685.2:g.47574536T= GRCh38
NC_000023.10:g.47433935T= , CM000685.1:g.47433935T= GRCh37
NC_000023.9:g.47318879T= NCBI36
NG_008437.1:g.50322A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1448A= MANE Select ENSP00000295987.7:p.Gln483=
ENST00000340666.5:c.1448A= ENSP00000343206.4:p.Gln483=
ENST00000640721.1:c.70+152A= ENSP00000492857.1:n.70+152A=
ENST00000295987.11:c.1448A= ENSP00000295987.7:p.Gln483=
ENST00000340666.4:c.1448A= ENSP00000343206.4:p.Gln483=
NM_006950.3:c.1448A= MANE Select NP_008881.2:p.Gln483=
NM_133499.2:c.1448A= NP_598006.1:p.Gln483=
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