Canonical Allele Identifier: CA329057580

Gene: SYN1

Linked Data

• ClinVar Variation Id: 465088
• ClinVar RCV Id: RCV000534455
• dbSNP Id: rs895517774
• gnomAD v2: X-47434170-G-A
• gnomAD v3: X-47574771-G-A
• gnomAD v4: X-47574771-G-A
• MyVariant Identifiers: chrX:g.47434170G>A (hg19) ; chrX:g.47574771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574771G>A , CM000685.2:g.47574771G>A	GRCh38
NC_000023.10:g.47434170G>A , CM000685.1:g.47434170G>A	GRCh37
NC_000023.9:g.47319114G>A	NCBI36
NG_008437.1:g.50087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1310C>T MANE Select	ENSP00000295987.7:p.Pro437Leu
ENST00000340666.5:c.1310C>T	ENSP00000343206.4:p.Pro437Leu
ENST00000295987.11:c.1310C>T	ENSP00000295987.7:p.Pro437Leu
ENST00000340666.4:c.1310C>T	ENSP00000343206.4:p.Pro437Leu
NM_006950.3:c.1310C>T MANE Select	NP_008881.2:p.Pro437Leu
NM_133499.2:c.1310C>T	NP_598006.1:p.Pro437Leu