Canonical Allele Identifier: CA412824528
Gene: SYN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47434108G>T (hg19) chrX:g.47574709G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574709G>T , CM000685.2:g.47574709G>T GRCh38
NC_000023.10:g.47434108G>T , CM000685.1:g.47434108G>T GRCh37
NC_000023.9:g.47319052G>T NCBI36
NG_008437.1:g.50149C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1372C>A MANE Select ENSP00000295987.7:p.Gln458Lys
ENST00000340666.5:c.1372C>A ENSP00000343206.4:p.Gln458Lys
ENST00000640721.1:c.49C>A ENSP00000492857.1:p.Gln17Lys
ENST00000295987.11:c.1372C>A ENSP00000295987.7:p.Gln458Lys
ENST00000340666.4:c.1372C>A ENSP00000343206.4:p.Gln458Lys
NM_006950.3:c.1372C>A MANE Select NP_008881.2:p.Gln458Lys
NM_133499.2:c.1372C>A NP_598006.1:p.Gln458Lys
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