Canonical Allele Identifier: CA329046824

Gene: SYN1

Linked Data

• dbSNP Id: rs776660799
• gnomAD v3: X-47588434-C-A
• gnomAD v4: X-47588434-C-A
• MyVariant Identifiers: chrX:g.47447833C>A (hg19) ; chrX:g.47588434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47588434C>A , CM000685.2:g.47588434C>A	GRCh38
NC_000023.10:g.47447833C>A , CM000685.1:g.47447833C>A	GRCh37
NC_000023.9:g.47332777C>A	NCBI36
NG_008437.1:g.36424G>T
NG_012533.1:g.11144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.775-10933G>T MANE Select	ENSP00000295987.7:n.775-10933G>T
ENST00000340666.5:c.775-10933G>T	ENSP00000343206.4:n.775-10933G>T
ENST00000295987.11:c.775-10933G>T	ENSP00000295987.7:n.775-10933G>T
ENST00000340666.4:c.775-10933G>T	ENSP00000343206.4:n.775-10933G>T
NM_006950.3:c.775-10933G>T MANE Select	NP_008881.2:n.775-10933G>T
NM_133499.2:c.775-10933G>T	NP_598006.1:n.775-10933G>T