Canonical Allele Identifier: CA412822107

Gene: SYN1

Linked Data

• dbSNP Id: rs1450465858
• gnomAD v3: X-47574054-C-A
• gnomAD v4: X-47574054-C-A
• MyVariant Identifiers: chrX:g.47433453C>A (hg19) ; chrX:g.47574054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574054C>A , CM000685.2:g.47574054C>A	GRCh38
NC_000023.10:g.47433453C>A , CM000685.1:g.47433453C>A	GRCh37
NC_000023.9:g.47318397C>A	NCBI36
NG_008437.1:g.50804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1930G>T MANE Select	ENSP00000295987.7:p.Val644Leu
ENST00000340666.5:c.1930G>T	ENSP00000343206.4:p.Val644Leu
ENST00000640721.1:c.70+634G>T	ENSP00000492857.1:n.70+634G>T
ENST00000295987.11:c.1930G>T	ENSP00000295987.7:p.Val644Leu
ENST00000340666.4:c.1930G>T	ENSP00000343206.4:p.Val644Leu
NM_006950.3:c.1930G>T MANE Select	NP_008881.2:p.Val644Leu
NM_133499.2:c.1930G>T	NP_598006.1:p.Val644Leu