Canonical Allele Identifier: CA2427970785
Gene: SYN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572876G= , CM000685.2:g.47572876G= GRCh38
NC_000023.10:g.47432275G= , CM000685.1:g.47432275G= GRCh37
NC_000023.9:g.47317219G= NCBI36
NG_008437.1:g.51982C=
NG_016339.1:g.16760G=
NG_016339.2:g.16760G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2106C= MANE Select ENSP00000295987.7:p.Leu702=
ENST00000340666.5:c.*58C= ENSP00000343206.4:n.*58C=
ENST00000640721.1:c.156C= ENSP00000492857.1:p.Leu52=
ENST00000295987.11:c.2106C= ENSP00000295987.7:p.Leu702=
ENST00000340666.4:c.*58C= ENSP00000343206.4:n.*58C=
NM_006950.3:c.2106C= MANE Select NP_008881.2:p.Leu702=
NM_133499.2:c.*58C= NP_598006.1:n.*58C=