Canonical Allele Identifier: CA149469

Gene: SYN1

Linked Data

• ClinVar Variation Id: 96364
• ClinVar RCV Id: RCV000082513 ; RCV000713562 ; RCV000715263 ; RCV001510460 ; RCV001815181
• dbSNP Id: rs1142636
• ExAC: X:47466361 A / G
• gnomAD v2: X-47466361-A-G
• gnomAD v3: X-47606962-A-G
• gnomAD v4: X-47606962-A-G
• MyVariant Identifiers: chrX:g.47466361A>G (hg19) ; chrX:g.47606962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47606962A>G , CM000685.2:g.47606962A>G	GRCh38
NC_000023.10:g.47466361A>G , CM000685.1:g.47466361A>G	GRCh37
NC_000023.9:g.47351305A>G	NCBI36
NG_008437.1:g.17896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.510T>C MANE Select	ENSP00000295987.7:p.Asn170=
ENST00000340666.5:c.510T>C	ENSP00000343206.4:p.Asn170=
ENST00000638337.1:n.53T>C
ENST00000639776.1:c.169T>C
ENST00000295987.11:c.510T>C	ENSP00000295987.7:p.Asn170=
ENST00000340666.4:c.510T>C	ENSP00000343206.4:p.Asn170=
NM_006950.3:c.510T>C MANE Select	NP_008881.2:p.Asn170=
NM_133499.2:c.510T>C	NP_598006.1:p.Asn170=