Canonical Allele Identifier: CA1132892986

Gene: SYN1

Linked Data

• dbSNP Id: rs2057765115
• gnomAD v3: X-47573082-G-GCCCAGC
• gnomAD v4: X-47573082-G-GCCCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573091_47573096dup , CM000685.2:g.47573091_47573096dup	GRCh38
NC_000023.10:g.47432490_47432495dup , CM000685.1:g.47432490_47432495dup	GRCh37
NC_000023.9:g.47317434_47317439dup	NCBI36
NG_008437.1:g.51770_51775dup
NG_016339.1:g.16975_16980dup
NG_016339.2:g.16975_16980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-89_1983-84dup MANE Select	ENSP00000295987.7:n.1983-89_1983-84dup
ENST00000340666.5:c.1983-127_1983-122dup	ENSP00000343206.4:n.1983-127_1983-122dup
ENST00000640721.1:c.71-127_71-122dup	ENSP00000492857.1:n.71-127_71-122dup
ENST00000295987.11:c.1983-89_1983-84dup	ENSP00000295987.7:n.1983-89_1983-84dup
ENST00000340666.4:c.1983-127_1983-122dup	ENSP00000343206.4:n.1983-127_1983-122dup
NM_006950.3:c.1983-89_1983-84dup MANE Select	NP_008881.2:n.1983-89_1983-84dup
NM_133499.2:c.1983-127_1983-122dup	NP_598006.1:n.1983-127_1983-122dup