Canonical Allele Identifier: CA2693584006
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47573080-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573080A>C , CM000685.2:g.47573080A>C GRCh38
NC_000023.10:g.47432479A>C , CM000685.1:g.47432479A>C GRCh37
NC_000023.9:g.47317423A>C NCBI36
NG_008437.1:g.51778T>G
NG_016339.1:g.16964A>C
NG_016339.2:g.16964A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1983-81T>G MANE Select ENSP00000295987.7:n.1983-81T>G
ENST00000340666.5:c.1983-119T>G ENSP00000343206.4:n.1983-119T>G
ENST00000640721.1:c.71-119T>G ENSP00000492857.1:n.71-119T>G
ENST00000295987.11:c.1983-81T>G ENSP00000295987.7:n.1983-81T>G
ENST00000340666.4:c.1983-119T>G ENSP00000343206.4:n.1983-119T>G
NM_006950.3:c.1983-81T>G MANE Select NP_008881.2:n.1983-81T>G
NM_133499.2:c.1983-119T>G NP_598006.1:n.1983-119T>G
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