Canonical Allele Identifier: CA412823448
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574450-T-C
MyVariant Identifiers: chrX:g.47433849T>C (hg19) chrX:g.47574450T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574450T>C , CM000685.2:g.47574450T>C GRCh38
NC_000023.10:g.47433849T>C , CM000685.1:g.47433849T>C GRCh37
NC_000023.9:g.47318793T>C NCBI36
NG_008437.1:g.50408A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1534A>G MANE Select ENSP00000295987.7:p.Thr512Ala
ENST00000340666.5:c.1534A>G ENSP00000343206.4:p.Thr512Ala
ENST00000640721.1:c.70+238A>G ENSP00000492857.1:n.70+238A>G
ENST00000295987.11:c.1534A>G ENSP00000295987.7:p.Thr512Ala
ENST00000340666.4:c.1534A>G ENSP00000343206.4:p.Thr512Ala
NM_006950.3:c.1534A>G MANE Select NP_008881.2:p.Thr512Ala
NM_133499.2:c.1534A>G NP_598006.1:p.Thr512Ala
Search 100 bp 5'
Search 100 bp 3'