Canonical Allele Identifier: CA2427971180

Gene: SYN1

Linked Data

• dbSNP Id: rs2057769090

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574087_47574089dup , CM000685.2:g.47574087_47574089dup	GRCh38
NC_000023.10:g.47433486_47433488dup , CM000685.1:g.47433486_47433488dup	GRCh37
NC_000023.9:g.47318430_47318432dup	NCBI36
NG_008437.1:g.50769_50771dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1895_1897dup MANE Select	ENSP00000295987.7:p.Pro632_Lys633insThr
ENST00000340666.5:c.1895_1897dup	ENSP00000343206.4:p.Pro632_Lys633insThr
ENST00000640721.1:c.70+599_70+601dup	ENSP00000492857.1:n.70+599_70+601dup
ENST00000295987.11:c.1895_1897dup	ENSP00000295987.7:p.Pro632_Lys633insThr
ENST00000340666.4:c.1895_1897dup	ENSP00000343206.4:p.Pro632_Lys633insThr
NM_006950.3:c.1895_1897dup MANE Select	NP_008881.2:p.Pro632_Lys633insThr
NM_133499.2:c.1895_1897dup	NP_598006.1:p.Pro632_Lys633insThr