Canonical Allele Identifier: CA2838032718

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443690dup , CM000668.2:g.33443690dup	GRCh38
NC_000006.11:g.33411467dup , CM000668.1:g.33411467dup	GRCh37
NC_000006.10:g.33519445dup	NCBI36
NG_016137.1:g.28621dup
NG_016137.2:g.28621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2880dup (SYNGAP1)	ENSP00000507403.1:p.Ser961LeufsTer?
ENST00000418600.7:c.3138dup (SYNGAP1)	ENSP00000403636.3:p.Ser1047LeufsTer?
ENST00000449372.7:c.3096dup (SYNGAP1)	ENSP00000416519.4:p.Ser1033LeufsTer?
ENST00000629380.3:c.3138dup (SYNGAP1)	ENSP00000486463.1:p.Ser1047LeufsTer?
ENST00000644458.1:c.3138dup (SYNGAP1)	ENSP00000495541.1:p.Ser1047LeufsTer?
ENST00000645250.1:c.2961dup (SYNGAP1)	ENSP00000494861.1:p.Ser988LeufsTer?
ENST00000646630.1:c.3138dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ser1047LeufsTer?
ENST00000293748.9:c.3093dup (SYNGAP1)	ENSP00000293748.6:p.Ser1032LeufsTer?
ENST00000418600.6:c.3138dup (SYNGAP1)	ENSP00000403636.3:p.Ser1047LeufsTer?
ENST00000428982.4:c.2961dup (SYNGAP1)	ENSP00000412475.2:p.Ser988LeufsTer?
ENST00000449372.6:c.3096dup (SYNGAP1)	ENSP00000416519.3:p.Ser1033LeufsTer?
ENST00000628646.2:c.3138dup (SYNGAP1)	ENSP00000486431.1:p.Ser1047LeufsTer?
ENST00000629380.2:c.3138dup (SYNGAP1)	ENSP00000486463.1:p.Ser1047LeufsTer?
NM_006772.2:c.3138dup (SYNGAP1)	NP_006763.2:p.Ser1047LeufsTer?
NM_001130066.1:c.3096dup (SYNGAP1)	NP_001123538.1:p.Ser1033LeufsTer?
NM_001130066.2:c.3096dup (SYNGAP1)	NP_001123538.1:p.Ser1033LeufsTer?
NM_006772.3:c.3138dup (SYNGAP1) MANE Select	NP_006763.2:p.Ser1047LeufsTer?
NR_174954.1:n.329+2920dup (SYNGAP1-AS1)