Canonical Allele Identifier: CA641900861
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs1352411512
gnomAD v2: X-47433392-T-C
gnomAD v4: X-47573993-T-C
MyVariant Identifiers: chrX:g.47433392T>C (hg19) chrX:g.47573993T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47573993T>C , CM000685.2:g.47573993T>C GRCh38
NC_000023.10:g.47433392T>C , CM000685.1:g.47433392T>C GRCh37
NC_000023.9:g.47318336T>C NCBI36
NG_008437.1:g.50865A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1982+9A>G MANE Select ENSP00000295987.7:n.1982+9A>G
ENST00000340666.5:c.1982+9A>G ENSP00000343206.4:n.1982+9A>G
ENST00000640721.1:c.70+695A>G ENSP00000492857.1:n.70+695A>G
ENST00000295987.11:c.1982+9A>G ENSP00000295987.7:n.1982+9A>G
ENST00000340666.4:c.1982+9A>G ENSP00000343206.4:n.1982+9A>G
NM_006950.3:c.1982+9A>G MANE Select NP_008881.2:n.1982+9A>G
NM_133499.2:c.1982+9A>G NP_598006.1:n.1982+9A>G
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