Canonical Allele Identifier: CA2693583873
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47572857-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47572857T>C , CM000685.2:g.47572857T>C GRCh38
NC_000023.10:g.47432256T>C , CM000685.1:g.47432256T>C GRCh37
NC_000023.9:g.47317200T>C NCBI36
NG_008437.1:g.52001A>G
NG_016339.1:g.16741T>C
NG_016339.2:g.16741T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.*7A>G MANE Select ENSP00000295987.7:n.*7A>G
ENST00000340666.5:c.*77A>G ENSP00000343206.4:n.*77A>G
ENST00000640721.1:c.175A>G ENSP00000492857.1:n.175A>G
ENST00000295987.11:c.*7A>G ENSP00000295987.7:n.*7A>G
ENST00000340666.4:c.*77A>G ENSP00000343206.4:n.*77A>G
NM_006950.3:c.*7A>G MANE Select NP_008881.2:n.*7A>G
NM_133499.2:c.*77A>G NP_598006.1:n.*77A>G
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