Canonical Allele Identifier: CA412820299
Gene: SYN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572885G>C , CM000685.2:g.47572885G>C GRCh38
NC_000023.10:g.47432284G>C , CM000685.1:g.47432284G>C GRCh37
NC_000023.9:g.47317228G>C NCBI36
NG_008437.1:g.51973C>G
NG_016339.1:g.16769G>C
NG_016339.2:g.16769G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.2097C>G MANE Select ENSP00000295987.7:p.Phe699Leu
ENST00000340666.5:c.*49C>G ENSP00000343206.4:n.*49C>G
ENST00000640721.1:c.147C>G ENSP00000492857.1:p.Phe49Leu
ENST00000295987.11:c.2097C>G ENSP00000295987.7:p.Phe699Leu
ENST00000340666.4:c.*49C>G ENSP00000343206.4:n.*49C>G
NM_006950.3:c.2097C>G MANE Select NP_008881.2:p.Phe699Leu
NM_133499.2:c.*49C>G NP_598006.1:n.*49C>G