Canonical Allele Identifier: CA2693584465
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47573988-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573988A>G , CM000685.2:g.47573988A>G GRCh38
NC_000023.10:g.47433387A>G , CM000685.1:g.47433387A>G GRCh37
NC_000023.9:g.47318331A>G NCBI36
NG_008437.1:g.50870T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1982+14T>C MANE Select ENSP00000295987.7:n.1982+14T>C
ENST00000340666.5:c.1982+14T>C ENSP00000343206.4:n.1982+14T>C
ENST00000640721.1:c.70+700T>C ENSP00000492857.1:n.70+700T>C
ENST00000295987.11:c.1982+14T>C ENSP00000295987.7:n.1982+14T>C
ENST00000340666.4:c.1982+14T>C ENSP00000343206.4:n.1982+14T>C
NM_006950.3:c.1982+14T>C MANE Select NP_008881.2:n.1982+14T>C
NM_133499.2:c.1982+14T>C NP_598006.1:n.1982+14T>C
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