Canonical Allele Identifier: CA363693725

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• MyVariant Identifiers: chr6:g.33408660A>T (hg19) ; chr6:g.33440883A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440883A>T , CM000668.2:g.33440883A>T	GRCh38
NC_000006.11:g.33408660A>T , CM000668.1:g.33408660A>T	GRCh37
NC_000006.10:g.33516638A>T	NCBI36
NG_016137.1:g.25814A>T
NG_016137.2:g.25814A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.1573A>T (SYNGAP1)	ENSP00000507403.1:p.Met525Leu
ENST00000418600.7:c.1831A>T (SYNGAP1)	ENSP00000403636.3:p.Met611Leu
ENST00000449372.7:c.1831A>T (SYNGAP1)	ENSP00000416519.4:p.Met611Leu
ENST00000629380.3:c.1831A>T (SYNGAP1)	ENSP00000486463.1:p.Met611Leu
ENST00000638142.2:c.*228A>T (SYNGAP1)	ENSP00000490803.1:n.*228A>T
ENST00000644458.1:c.1831A>T (SYNGAP1)	ENSP00000495541.1:p.Met611Leu
ENST00000645250.1:c.1654A>T (SYNGAP1)	ENSP00000494861.1:p.Met552Leu
ENST00000646630.1:c.1831A>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Met611Leu
ENST00000293748.9:c.1786A>T (SYNGAP1)	ENSP00000293748.6:p.Met596Leu
ENST00000418600.6:c.1831A>T (SYNGAP1)	ENSP00000403636.3:p.Met611Leu
ENST00000428982.4:c.1654A>T (SYNGAP1)	ENSP00000412475.2:p.Met552Leu
ENST00000449372.6:c.1831A>T (SYNGAP1)	ENSP00000416519.3:p.Met611Leu
ENST00000628646.2:c.1831A>T (SYNGAP1)	ENSP00000486431.1:p.Met611Leu
ENST00000629380.2:c.1831A>T (SYNGAP1)	ENSP00000486463.1:p.Met611Leu
NM_006772.2:c.1831A>T (SYNGAP1)	NP_006763.2:p.Met611Leu
NM_001130066.1:c.1831A>T (SYNGAP1)	NP_001123538.1:p.Met611Leu
NM_001130066.2:c.1831A>T (SYNGAP1)	NP_001123538.1:p.Met611Leu
NM_006772.3:c.1831A>T (SYNGAP1) MANE Select	NP_006763.2:p.Met611Leu
NR_174954.1:n.330-3402T>A (SYNGAP1-AS1)