Canonical Allele Identifier: CA2427970846

Gene: SYN1

Linked Data

• dbSNP Id: rs2057765129
• gnomAD v4: X-47573085-C-CAGCCCCAGCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47573086_47573097dup , CM000685.2:g.47573086_47573097dup	GRCh38
NC_000023.10:g.47432485_47432496dup , CM000685.1:g.47432485_47432496dup	GRCh37
NC_000023.9:g.47317429_47317440dup	NCBI36
NG_008437.1:g.51761_51772dup
NG_016339.1:g.16970_16981dup
NG_016339.2:g.16970_16981dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1983-98_1983-87dup MANE Select	ENSP00000295987.7:n.1983-98_1983-87dup
ENST00000340666.5:c.1983-136_1983-125dup	ENSP00000343206.4:n.1983-136_1983-125dup
ENST00000640721.1:c.71-136_71-125dup	ENSP00000492857.1:n.71-136_71-125dup
ENST00000295987.11:c.1983-98_1983-87dup	ENSP00000295987.7:n.1983-98_1983-87dup
ENST00000340666.4:c.1983-136_1983-125dup	ENSP00000343206.4:n.1983-136_1983-125dup
NM_006950.3:c.1983-98_1983-87dup MANE Select	NP_008881.2:n.1983-98_1983-87dup
NM_133499.2:c.1983-136_1983-125dup	NP_598006.1:n.1983-136_1983-125dup