Canonical Allele Identifier: CA3758929
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2167465
ClinVar RCV Id: RCV003092128
dbSNP Id: rs760948707
gnomAD v2: 6-33410986-C-T
gnomAD v4: 6-33443209-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443209C>T , CM000668.2:g.33443209C>T GRCh38
NC_000006.11:g.33410986C>T , CM000668.1:g.33410986C>T GRCh37
NC_000006.10:g.33518964C>T NCBI36
NG_016137.1:g.28140C>T
NG_016137.2:g.28140C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.2399C>T (SYNGAP1) ENSP00000507403.1:p.Ala800Val
ENST00000418600.7:c.2657C>T (SYNGAP1) ENSP00000403636.3:p.Ala886Val
ENST00000449372.7:c.2615C>T (SYNGAP1) ENSP00000416519.4:p.Ala872Val
ENST00000629380.3:c.2657C>T (SYNGAP1) ENSP00000486463.1:p.Ala886Val
ENST00000644458.1:c.2657C>T (SYNGAP1) ENSP00000495541.1:p.Ala886Val
ENST00000645250.1:c.2480C>T (SYNGAP1) ENSP00000494861.1:p.Ala827Val
ENST00000646630.1:c.2657C>T (SYNGAP1) MANE Select ENSP00000496007.1:p.Ala886Val
ENST00000293748.9:c.2612C>T (SYNGAP1) ENSP00000293748.6:p.Ala871Val
ENST00000418600.6:c.2657C>T (SYNGAP1) ENSP00000403636.3:p.Ala886Val
ENST00000428982.4:c.2480C>T (SYNGAP1) ENSP00000412475.2:p.Ala827Val
ENST00000449372.6:c.2615C>T (SYNGAP1) ENSP00000416519.3:p.Ala872Val
ENST00000628646.2:c.2657C>T (SYNGAP1) ENSP00000486431.1:p.Ala886Val
ENST00000629380.2:c.2657C>T (SYNGAP1) ENSP00000486463.1:p.Ala886Val
NM_006772.2:c.2657C>T (SYNGAP1) NP_006763.2:p.Ala886Val
NM_001130066.1:c.2615C>T (SYNGAP1) NP_001123538.1:p.Ala872Val
NM_001130066.2:c.2615C>T (SYNGAP1) NP_001123538.1:p.Ala872Val
NM_006772.3:c.2657C>T (SYNGAP1) MANE Select NP_006763.2:p.Ala886Val
NR_174954.1:n.329+3397G>A (SYNGAP1-AS1)