Canonical Allele Identifier: CA412822101

Gene: SYN1

Linked Data

• dbSNP Id: rs1427505546
• gnomAD v2: X-47433450-G-A
• gnomAD v4: X-47574051-G-A
• MyVariant Identifiers: chrX:g.47433450G>A (hg19) ; chrX:g.47574051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574051G>A , CM000685.2:g.47574051G>A	GRCh38
NC_000023.10:g.47433450G>A , CM000685.1:g.47433450G>A	GRCh37
NC_000023.9:g.47318394G>A	NCBI36
NG_008437.1:g.50807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1933C>T MANE Select	ENSP00000295987.7:p.Pro645Ser
ENST00000340666.5:c.1933C>T	ENSP00000343206.4:p.Pro645Ser
ENST00000640721.1:c.70+637C>T	ENSP00000492857.1:n.70+637C>T
ENST00000295987.11:c.1933C>T	ENSP00000295987.7:p.Pro645Ser
ENST00000340666.4:c.1933C>T	ENSP00000343206.4:p.Pro645Ser
NM_006950.3:c.1933C>T MANE Select	NP_008881.2:p.Pro645Ser
NM_133499.2:c.1933C>T	NP_598006.1:p.Pro645Ser