Canonical Allele Identifier: CA2558746031
Gene: SYN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574787G>A , CM000685.2:g.47574787G>A GRCh38
NC_000023.10:g.47434186G>A , CM000685.1:g.47434186G>A GRCh37
NC_000023.9:g.47319130G>A NCBI36
NG_008437.1:g.50071C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1306-12C>T MANE Select ENSP00000295987.7:n.1306-12C>T
ENST00000340666.5:c.1306-12C>T ENSP00000343206.4:n.1306-12C>T
ENST00000295987.11:c.1306-12C>T ENSP00000295987.7:n.1306-12C>T
ENST00000340666.4:c.1306-12C>T ENSP00000343206.4:n.1306-12C>T
NM_006950.3:c.1306-12C>T MANE Select NP_008881.2:n.1306-12C>T
NM_133499.2:c.1306-12C>T NP_598006.1:n.1306-12C>T
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