Canonical Allele Identifier: CA516353260
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs2057768943
gnomAD v4: X-47574046-T-G
MyVariant Identifiers: chrX:g.47433445T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574046T>G , CM000685.2:g.47574046T>G GRCh38
NC_000023.10:g.47433445T>G , CM000685.1:g.47433445T>G GRCh37
NC_000023.9:g.47318389T>G NCBI36
NG_008437.1:g.50812A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1938A>C MANE Select ENSP00000295987.7:p.Pro646=
ENST00000340666.5:c.1938A>C ENSP00000343206.4:p.Pro646=
ENST00000640721.1:c.70+642A>C ENSP00000492857.1:n.70+642A>C
ENST00000295987.11:c.1938A>C ENSP00000295987.7:p.Pro646=
ENST00000340666.4:c.1938A>C ENSP00000343206.4:p.Pro646=
NM_006950.3:c.1938A>C MANE Select NP_008881.2:p.Pro646=
NM_133499.2:c.1938A>C NP_598006.1:p.Pro646=
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