Canonical Allele Identifier: CA412820666
Gene: SYN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572961T>G , CM000685.2:g.47572961T>G GRCh38
NC_000023.10:g.47432360T>G , CM000685.1:g.47432360T>G GRCh37
NC_000023.9:g.47317304T>G NCBI36
NG_008437.1:g.51897A>C
NG_016339.1:g.16845T>G
NG_016339.2:g.16845T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.2021A>C MANE Select ENSP00000295987.7:p.Glu674Ala
ENST00000340666.5:c.1983A>C ENSP00000343206.4:p.Lys661Asn
ENST00000640721.1:c.71A>C ENSP00000492857.1:p.Glu24Ala
ENST00000295987.11:c.2021A>C ENSP00000295987.7:p.Glu674Ala
ENST00000340666.4:c.1983A>C ENSP00000343206.4:p.Lys661Asn
NM_006950.3:c.2021A>C MANE Select NP_008881.2:p.Glu674Ala
NM_133499.2:c.1983A>C NP_598006.1:p.Lys661Asn