Canonical Allele Identifier: CA1132893008

Gene: SYN1

Linked Data

• dbSNP Id: rs2057765718
• gnomAD v3: X-47573248-G-A
• gnomAD v4: X-47573248-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573248G>A , CM000685.2:g.47573248G>A	GRCh38
NC_000023.10:g.47432647G>A , CM000685.1:g.47432647G>A	GRCh37
NC_000023.9:g.47317591G>A	NCBI36
NG_008437.1:g.51610C>T
NG_016339.1:g.17132G>A
NG_016339.2:g.17132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-249C>T MANE Select	ENSP00000295987.7:n.1983-249C>T
ENST00000340666.5:c.1983-287C>T	ENSP00000343206.4:n.1983-287C>T
ENST00000640721.1:c.71-287C>T	ENSP00000492857.1:n.71-287C>T
ENST00000295987.11:c.1983-249C>T	ENSP00000295987.7:n.1983-249C>T
ENST00000340666.4:c.1983-287C>T	ENSP00000343206.4:n.1983-287C>T
NM_006950.3:c.1983-249C>T MANE Select	NP_008881.2:n.1983-249C>T
NM_133499.2:c.1983-287C>T	NP_598006.1:n.1983-287C>T