Canonical Allele Identifier: CA915951049

Gene: SYN1

Linked Data

• ClinVar Variation Id: 763014
• ClinVar RCV Id: RCV001399344
• dbSNP Id: rs1603050623

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574600A>C , CM000685.2:g.47574600A>C	GRCh38
NC_000023.10:g.47433999A>C , CM000685.1:g.47433999A>C	GRCh37
NC_000023.9:g.47318943A>C	NCBI36
NG_008437.1:g.50258T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1394-10T>G MANE Select	ENSP00000295987.7:n.1394-10T>G
ENST00000340666.5:c.1394-10T>G	ENSP00000343206.4:n.1394-10T>G
ENST00000640721.1:c.70+88T>G	ENSP00000492857.1:n.70+88T>G
ENST00000295987.11:c.1394-10T>G	ENSP00000295987.7:n.1394-10T>G
ENST00000340666.4:c.1394-10T>G	ENSP00000343206.4:n.1394-10T>G
NM_006950.3:c.1394-10T>G MANE Select	NP_008881.2:n.1394-10T>G
NM_133499.2:c.1394-10T>G	NP_598006.1:n.1394-10T>G