Canonical Allele Identifier: CA2519294914
Gene: SYN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572863A>G , CM000685.2:g.47572863A>G GRCh38
NC_000023.10:g.47432262A>G , CM000685.1:g.47432262A>G GRCh37
NC_000023.9:g.47317206A>G NCBI36
NG_008437.1:g.51995T>C
NG_016339.1:g.16747A>G
NG_016339.2:g.16747A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.*1T>C MANE Select ENSP00000295987.7:n.*1T>C
ENST00000340666.5:c.*71T>C ENSP00000343206.4:n.*71T>C
ENST00000640721.1:c.169T>C ENSP00000492857.1:n.169T>C
ENST00000295987.11:c.*1T>C ENSP00000295987.7:n.*1T>C
ENST00000340666.4:c.*71T>C ENSP00000343206.4:n.*71T>C
NM_006950.3:c.*1T>C MANE Select NP_008881.2:n.*1T>C
NM_133499.2:c.*71T>C NP_598006.1:n.*71T>C