Canonical Allele Identifier: CA16612033
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411589
ClinVar RCV Id: RCV000470395 RCV001265347 RCV002274036
dbSNP Id: rs1060503386
MyVariant Identifiers: chr6:g.33408690C>T (hg19) chr6:g.33440913C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33440913C>T , CM000668.2:g.33440913C>T GRCh38
NC_000006.11:g.33408690C>T , CM000668.1:g.33408690C>T GRCh37
NC_000006.10:g.33516668C>T NCBI36
NG_016137.1:g.25844C>T
NG_016137.2:g.25844C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.1603C>T (SYNGAP1) ENSP00000507403.1:p.Arg535Ter
ENST00000418600.7:c.1861C>T (SYNGAP1) ENSP00000403636.3:p.Arg621Ter
ENST00000449372.7:c.1861C>T (SYNGAP1) ENSP00000416519.4:p.Arg621Ter
ENST00000629380.3:c.1861C>T (SYNGAP1) ENSP00000486463.1:p.Arg621Ter
ENST00000638142.2:c.*258C>T (SYNGAP1) ENSP00000490803.1:n.*258C>T
ENST00000644458.1:c.1861C>T (SYNGAP1) ENSP00000495541.1:p.Arg621Ter
ENST00000645250.1:c.1684C>T (SYNGAP1) ENSP00000494861.1:p.Arg562Ter
ENST00000646630.1:c.1861C>T (SYNGAP1) MANE Select ENSP00000496007.1:p.Arg621Ter
ENST00000293748.9:c.1816C>T (SYNGAP1) ENSP00000293748.6:p.Arg606Ter
ENST00000418600.6:c.1861C>T (SYNGAP1) ENSP00000403636.3:p.Arg621Ter
ENST00000428982.4:c.1684C>T (SYNGAP1) ENSP00000412475.2:p.Arg562Ter
ENST00000449372.6:c.1861C>T (SYNGAP1) ENSP00000416519.3:p.Arg621Ter
ENST00000628646.2:c.1861C>T (SYNGAP1) ENSP00000486431.1:p.Arg621Ter
ENST00000629380.2:c.1861C>T (SYNGAP1) ENSP00000486463.1:p.Arg621Ter
NM_006772.2:c.1861C>T (SYNGAP1) NP_006763.2:p.Arg621Ter
NM_001130066.1:c.1861C>T (SYNGAP1) NP_001123538.1:p.Arg621Ter
NM_001130066.2:c.1861C>T (SYNGAP1) NP_001123538.1:p.Arg621Ter
NM_006772.3:c.1861C>T (SYNGAP1) MANE Select NP_006763.2:p.Arg621Ter
NR_174954.1:n.330-3432G>A (SYNGAP1-AS1)
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