Canonical Allele Identifier: CA10398436

Gene: SYN1

Linked Data

• ClinVar Variation Id: 379583
• ClinVar RCV Id: RCV000420108 ; RCV002061637
• dbSNP Id: rs375349005
• ExAC: X:47435824 G / A
• gnomAD v2: X-47435824-G-A
• gnomAD v3: X-47576425-G-A
• gnomAD v4: X-47576425-G-A
• MyVariant Identifiers: chrX:g.47435824G>A (hg19) ; chrX:g.47576425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47576425G>A , CM000685.2:g.47576425G>A	GRCh38
NC_000023.10:g.47435824G>A , CM000685.1:g.47435824G>A	GRCh37
NC_000023.9:g.47320768G>A	NCBI36
NG_008437.1:g.48433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.981-19C>T MANE Select	ENSP00000295987.7:n.981-19C>T
ENST00000340666.5:c.981-19C>T	ENSP00000343206.4:n.981-19C>T
ENST00000295987.11:c.981-19C>T	ENSP00000295987.7:n.981-19C>T
ENST00000340666.4:c.981-19C>T	ENSP00000343206.4:n.981-19C>T
NM_006950.3:c.981-19C>T MANE Select	NP_008881.2:n.981-19C>T
NM_133499.2:c.981-19C>T	NP_598006.1:n.981-19C>T