Canonical Allele Identifier: CA412822565
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47574194-G-T
MyVariant Identifiers: chrX:g.47433593G>T (hg19) chrX:g.47574194G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574194G>T , CM000685.2:g.47574194G>T GRCh38
NC_000023.10:g.47433593G>T , CM000685.1:g.47433593G>T GRCh37
NC_000023.9:g.47318537G>T NCBI36
NG_008437.1:g.50664C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1790C>A MANE Select ENSP00000295987.7:p.Pro597Gln
ENST00000340666.5:c.1790C>A ENSP00000343206.4:p.Pro597Gln
ENST00000640721.1:c.70+494C>A ENSP00000492857.1:n.70+494C>A
ENST00000295987.11:c.1790C>A ENSP00000295987.7:p.Pro597Gln
ENST00000340666.4:c.1790C>A ENSP00000343206.4:p.Pro597Gln
NM_006950.3:c.1790C>A MANE Select NP_008881.2:p.Pro597Gln
NM_133499.2:c.1790C>A NP_598006.1:p.Pro597Gln
Search 100 bp 5'
Search 100 bp 3'