Canonical Allele Identifier: CA16618284
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423403
ClinVar RCV Id: RCV000478343
dbSNP Id: rs1064796403
MyVariant Identifiers: chr6:g.33412283G>A (hg19) chr6:g.33444506G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33444506G>A , CM000668.2:g.33444506G>A GRCh38
NC_000006.11:g.33412283G>A , CM000668.1:g.33412283G>A GRCh37
NC_000006.10:g.33520261G>A NCBI36
NG_016137.1:g.29437G>A
NG_016137.2:g.29437G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.3213G>A (SYNGAP1) ENSP00000507403.1:p.Trp1071Ter
ENST00000418600.7:c.3471G>A (SYNGAP1) ENSP00000403636.3:p.Trp1157Ter
ENST00000449372.7:c.3429G>A (SYNGAP1) ENSP00000416519.4:p.Trp1143Ter
ENST00000629380.3:c.3471G>A (SYNGAP1) ENSP00000486463.1:p.Trp1157Ter
ENST00000644458.1:c.3471G>A (SYNGAP1) ENSP00000495541.1:p.Trp1157Ter
ENST00000645250.1:c.3294G>A (SYNGAP1) ENSP00000494861.1:p.Trp1098Ter
ENST00000646630.1:c.3471G>A (SYNGAP1) MANE Select ENSP00000496007.1:p.Trp1157Ter
ENST00000293748.9:c.3426G>A (SYNGAP1) ENSP00000293748.6:p.Trp1142Ter
ENST00000418600.6:c.3471G>A (SYNGAP1) ENSP00000403636.3:p.Trp1157Ter
ENST00000428982.4:c.3294G>A (SYNGAP1) ENSP00000412475.2:p.Trp1098Ter
ENST00000449372.6:c.3429G>A (SYNGAP1) ENSP00000416519.3:p.Trp1143Ter
ENST00000628646.2:c.3471G>A (SYNGAP1) ENSP00000486431.1:p.Trp1157Ter
ENST00000629380.2:c.3471G>A (SYNGAP1) ENSP00000486463.1:p.Trp1157Ter
NM_006772.2:c.3471G>A (SYNGAP1) NP_006763.2:p.Trp1157Ter
NM_001130066.1:c.3429G>A (SYNGAP1) NP_001123538.1:p.Trp1143Ter
NM_001130066.2:c.3429G>A (SYNGAP1) NP_001123538.1:p.Trp1143Ter
NM_006772.3:c.3471G>A (SYNGAP1) MANE Select NP_006763.2:p.Trp1157Ter
NR_174954.1:n.329+2100C>T (SYNGAP1-AS1)
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