Canonical Allele Identifier: CA412822598
Gene: SYN1 HGNC NCBI

Linked Data

dbSNP Id: rs980227443
gnomAD v3: X-47574204-G-C
gnomAD v4: X-47574204-G-C
MyVariant Identifiers: chrX:g.47433603G>C (hg19) chrX:g.47574204G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47574204G>C , CM000685.2:g.47574204G>C GRCh38
NC_000023.10:g.47433603G>C , CM000685.1:g.47433603G>C GRCh37
NC_000023.9:g.47318547G>C NCBI36
NG_008437.1:g.50654C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295987.13:c.1780C>G MANE Select ENSP00000295987.7:p.Pro594Ala
ENST00000340666.5:c.1780C>G ENSP00000343206.4:p.Pro594Ala
ENST00000640721.1:c.70+484C>G ENSP00000492857.1:n.70+484C>G
ENST00000295987.11:c.1780C>G ENSP00000295987.7:p.Pro594Ala
ENST00000340666.4:c.1780C>G ENSP00000343206.4:p.Pro594Ala
NM_006950.3:c.1780C>G MANE Select NP_008881.2:p.Pro594Ala
NM_133499.2:c.1780C>G NP_598006.1:p.Pro594Ala
Search 100 bp 5'
Search 100 bp 3'