Canonical Allele Identifier: CA2580101019

Gene: SYN1

Linked Data

• ClinVar Variation Id: 1700047
• ClinVar RCV Id: RCV002508171

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574082_47574194del , CM000685.2:g.47574082_47574194del	GRCh38
NC_000023.10:g.47433481_47433593del , CM000685.1:g.47433481_47433593del	GRCh37
NC_000023.9:g.47318425_47318537del	NCBI36
NG_008437.1:g.50668_50780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1794_1906del MANE Select	ENSP00000295987.7:p.Thr601GlufsTer?
ENST00000340666.5:c.1794_1906del	ENSP00000343206.4:p.Thr601GlufsTer?
ENST00000640721.1:c.70+498_70+610del	ENSP00000492857.1:n.70+498_70+610del
ENST00000295987.11:c.1794_1906del	ENSP00000295987.7:p.Thr601GlufsTer?
ENST00000340666.4:c.1794_1906del	ENSP00000343206.4:p.Thr601GlufsTer?
NM_006950.3:c.1794_1906del MANE Select	NP_008881.2:p.Thr601GlufsTer?
NM_133499.2:c.1794_1906del	NP_598006.1:p.Thr601GlufsTer?