Canonical Allele Identifier: CA363680549

Gene: SYNGAP1

Linked Data

• MyVariant Identifiers: chr6:g.33400495A>C (hg19) ; chr6:g.33432718A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432718A>C , CM000668.2:g.33432718A>C	GRCh38
NC_000006.11:g.33400495A>C , CM000668.1:g.33400495A>C	GRCh37
NC_000006.10:g.33508473A>C	NCBI36
NG_016137.1:g.17649A>C
NG_016137.2:g.17649A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.163A>C	ENSP00000507403.1:p.Ile55Leu
ENST00000418600.7:c.421A>C	ENSP00000403636.3:p.Ile141Leu
ENST00000449372.7:c.421A>C	ENSP00000416519.4:p.Ile141Leu
ENST00000629380.3:c.421A>C	ENSP00000486463.1:p.Ile141Leu
ENST00000638142.2:c.421A>C	ENSP00000490803.1:p.Ile141Leu
ENST00000644458.1:c.421A>C	ENSP00000495541.1:p.Ile141Leu
ENST00000645250.1:c.244A>C	ENSP00000494861.1:p.Ile82Leu
ENST00000646630.1:c.421A>C MANE Select	ENSP00000496007.1:p.Ile141Leu
ENST00000293748.9:c.376A>C	ENSP00000293748.6:p.Ile126Leu
ENST00000418600.6:c.421A>C	ENSP00000403636.3:p.Ile141Leu
ENST00000428982.4:c.244A>C	ENSP00000412475.2:p.Ile82Leu
ENST00000449372.6:c.421A>C	ENSP00000416519.3:p.Ile141Leu
ENST00000479510.2:n.616A>C
ENST00000628646.2:c.421A>C	ENSP00000486431.1:p.Ile141Leu
ENST00000629380.2:c.421A>C	ENSP00000486463.1:p.Ile141Leu
NM_006772.2:c.421A>C	NP_006763.2:p.Ile141Leu
NM_001130066.1:c.421A>C	NP_001123538.1:p.Ile141Leu
NM_001130066.2:c.421A>C	NP_001123538.1:p.Ile141Leu
NM_006772.3:c.421A>C MANE Select	NP_006763.2:p.Ile141Leu