Canonical Allele Identifier: CA2537905157

Gene: SYN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47574086_47574087insGG , CM000685.2:g.47574086_47574087insGG	GRCh38
NC_000023.10:g.47433485_47433486insGG , CM000685.1:g.47433485_47433486insGG	GRCh37
NC_000023.9:g.47318429_47318430insGG	NCBI36
NG_008437.1:g.50771_50772insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295987.13:c.1897_1898insCC MANE Select	ENSP00000295987.7:p.Lys633ThrfsTer?
ENST00000340666.5:c.1897_1898insCC	ENSP00000343206.4:p.Lys633ThrfsTer?
ENST00000640721.1:c.70+601_70+602insCC	ENSP00000492857.1:n.70+601_70+602insCC
ENST00000295987.11:c.1897_1898insCC	ENSP00000295987.7:p.Lys633ThrfsTer?
ENST00000340666.4:c.1897_1898insCC	ENSP00000343206.4:p.Lys633ThrfsTer?
NM_006950.3:c.1897_1898insCC MANE Select	NP_008881.2:p.Lys633ThrfsTer?
NM_133499.2:c.1897_1898insCC	NP_598006.1:p.Lys633ThrfsTer?