Canonical Allele Identifier: CA363629388

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• MyVariant Identifiers: chr6:g.33411223A>T (hg19) ; chr6:g.33443446A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443446A>T , CM000668.2:g.33443446A>T	GRCh38
NC_000006.11:g.33411223A>T , CM000668.1:g.33411223A>T	GRCh37
NC_000006.10:g.33519201A>T	NCBI36
NG_016137.1:g.28377A>T
NG_016137.2:g.28377A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2636A>T (SYNGAP1)	ENSP00000507403.1:p.His879Leu
ENST00000418600.7:c.2894A>T (SYNGAP1)	ENSP00000403636.3:p.His965Leu
ENST00000449372.7:c.2852A>T (SYNGAP1)	ENSP00000416519.4:p.His951Leu
ENST00000629380.3:c.2894A>T (SYNGAP1)	ENSP00000486463.1:p.His965Leu
ENST00000644458.1:c.2894A>T (SYNGAP1)	ENSP00000495541.1:p.His965Leu
ENST00000645250.1:c.2717A>T (SYNGAP1)	ENSP00000494861.1:p.His906Leu
ENST00000646630.1:c.2894A>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.His965Leu
ENST00000293748.9:c.2849A>T (SYNGAP1)	ENSP00000293748.6:p.His950Leu
ENST00000418600.6:c.2894A>T (SYNGAP1)	ENSP00000403636.3:p.His965Leu
ENST00000428982.4:c.2717A>T (SYNGAP1)	ENSP00000412475.2:p.His906Leu
ENST00000449372.6:c.2852A>T (SYNGAP1)	ENSP00000416519.3:p.His951Leu
ENST00000628646.2:c.2894A>T (SYNGAP1)	ENSP00000486431.1:p.His965Leu
ENST00000629380.2:c.2894A>T (SYNGAP1)	ENSP00000486463.1:p.His965Leu
NM_006772.2:c.2894A>T (SYNGAP1)	NP_006763.2:p.His965Leu
NM_001130066.1:c.2852A>T (SYNGAP1)	NP_001123538.1:p.His951Leu
NM_001130066.2:c.2852A>T (SYNGAP1)	NP_001123538.1:p.His951Leu
NM_006772.3:c.2894A>T (SYNGAP1) MANE Select	NP_006763.2:p.His965Leu
NR_174954.1:n.329+3160T>A (SYNGAP1-AS1)