Canonical Allele Identifier: CA412820575
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432345C>T (hg19) chrX:g.47572946C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572946C>T , CM000685.2:g.47572946C>T GRCh38
NC_000023.10:g.47432345C>T , CM000685.1:g.47432345C>T GRCh37
NC_000023.9:g.47317289C>T NCBI36
NG_008437.1:g.51912G>A
NG_016339.1:g.16830C>T
NG_016339.2:g.16830C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2036G>A MANE Select ENSP00000295987.7:p.Arg679Lys
ENST00000340666.5:c.1998G>A ENSP00000343206.4:p.Gln666=
ENST00000640721.1:c.86G>A ENSP00000492857.1:p.Arg29Lys
ENST00000295987.11:c.2036G>A ENSP00000295987.7:p.Arg679Lys
ENST00000340666.4:c.1998G>A ENSP00000343206.4:p.Gln666=
NM_006950.3:c.2036G>A MANE Select NP_008881.2:p.Arg679Lys
NM_133499.2:c.1998G>A NP_598006.1:p.Gln666=
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