Canonical Allele Identifier: CA2695200213
Gene: SYN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2665059
ClinVar RCV Id: RCV003448609
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576123G>A , CM000685.2:g.47576123G>A GRCh38
NC_000023.10:g.47435522G>A , CM000685.1:g.47435522G>A GRCh37
NC_000023.9:g.47320466G>A NCBI36
NG_008437.1:g.48735C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1158+8C>T MANE Select ENSP00000295987.7:n.1158+8C>T
ENST00000340666.5:c.1158+8C>T ENSP00000343206.4:n.1158+8C>T
ENST00000295987.11:c.1158+8C>T ENSP00000295987.7:n.1158+8C>T
ENST00000340666.4:c.1158+8C>T ENSP00000343206.4:n.1158+8C>T
NM_006950.3:c.1158+8C>T MANE Select NP_008881.2:n.1158+8C>T
NM_133499.2:c.1158+8C>T NP_598006.1:n.1158+8C>T
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