Canonical Allele Identifier: CA658657587
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 469164
ClinVar RCV Id: RCV000534618
dbSNP Id: rs1554121189
MyVariant Identifiers: chr6:g.33405539_33405546dup (hg19) chr6:g.33437762_33437769dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33437762_33437769dup , CM000668.2:g.33437762_33437769dup GRCh38
NC_000006.11:g.33405539_33405546dup , CM000668.1:g.33405539_33405546dup GRCh37
NC_000006.10:g.33513517_33513524dup NCBI36
NG_016137.1:g.22693_22700dup
NG_016137.2:g.22693_22700dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.599_606dup (SYNGAP1) ENSP00000507403.1:p.Met203TrpfsTer?
ENST00000418600.7:c.857_864dup (SYNGAP1) ENSP00000403636.3:p.Met289TrpfsTer?
ENST00000449372.7:c.857_864dup (SYNGAP1) ENSP00000416519.4:p.Met289TrpfsTer?
ENST00000629380.3:c.857_864dup (SYNGAP1) ENSP00000486463.1:p.Met289TrpfsTer?
ENST00000638142.2:c.857_864dup (SYNGAP1) ENSP00000490803.1:p.Met289TrpfsTer?
ENST00000644458.1:c.857_864dup (SYNGAP1) ENSP00000495541.1:p.Met289TrpfsTer?
ENST00000645250.1:c.680_687dup (SYNGAP1) ENSP00000494861.1:p.Met230TrpfsTer?
ENST00000646630.1:c.857_864dup (SYNGAP1) MANE Select ENSP00000496007.1:p.Met289TrpfsTer?
ENST00000293748.9:c.812_819dup (SYNGAP1) ENSP00000293748.6:p.Met274TrpfsTer?
ENST00000418600.6:c.857_864dup (SYNGAP1) ENSP00000403636.3:p.Met289TrpfsTer?
ENST00000428982.4:c.680_687dup (SYNGAP1) ENSP00000412475.2:p.Met230TrpfsTer?
ENST00000449372.6:c.857_864dup (SYNGAP1) ENSP00000416519.3:p.Met289TrpfsTer?
ENST00000479510.2:n.1052_1059dup (SYNGAP1)
ENST00000628646.2:c.857_864dup (SYNGAP1) ENSP00000486431.1:p.Met289TrpfsTer?
ENST00000629380.2:c.857_864dup (SYNGAP1) ENSP00000486463.1:p.Met289TrpfsTer?
NM_006772.2:c.857_864dup (SYNGAP1) NP_006763.2:p.Met289TrpfsTer?
NM_001130066.1:c.857_864dup (SYNGAP1) NP_001123538.1:p.Met289TrpfsTer?
NM_001130066.2:c.857_864dup (SYNGAP1) NP_001123538.1:p.Met289TrpfsTer?
NM_006772.3:c.857_864dup (SYNGAP1) MANE Select NP_006763.2:p.Met289TrpfsTer?
NR_174954.1:n.330-287_330-280dup (SYNGAP1-AS1)
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