Canonical Allele Identifier: CA412820655
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47432359C>A (hg19) chrX:g.47572960C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572960C>A , CM000685.2:g.47572960C>A GRCh38
NC_000023.10:g.47432359C>A , CM000685.1:g.47432359C>A GRCh37
NC_000023.9:g.47317303C>A NCBI36
NG_008437.1:g.51898G>T
NG_016339.1:g.16844C>A
NG_016339.2:g.16844C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2022G>T MANE Select ENSP00000295987.7:p.Glu674Asp
ENST00000340666.5:c.1984G>T ENSP00000343206.4:p.Ala662Ser
ENST00000640721.1:c.72G>T ENSP00000492857.1:p.Glu24Asp
ENST00000295987.11:c.2022G>T ENSP00000295987.7:p.Glu674Asp
ENST00000340666.4:c.1984G>T ENSP00000343206.4:p.Ala662Ser
NM_006950.3:c.2022G>T MANE Select NP_008881.2:p.Glu674Asp
NM_133499.2:c.1984G>T NP_598006.1:p.Ala662Ser
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