Canonical Allele Identifier: CA363626573
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 6-33443226-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443226T>C , CM000668.2:g.33443226T>C GRCh38
NC_000006.11:g.33411003T>C , CM000668.1:g.33411003T>C GRCh37
NC_000006.10:g.33518981T>C NCBI36
NG_016137.1:g.28157T>C
NG_016137.2:g.28157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.2416T>C (SYNGAP1) ENSP00000507403.1:p.Ser806Pro
ENST00000418600.7:c.2674T>C (SYNGAP1) ENSP00000403636.3:p.Ser892Pro
ENST00000449372.7:c.2632T>C (SYNGAP1) ENSP00000416519.4:p.Ser878Pro
ENST00000629380.3:c.2674T>C (SYNGAP1) ENSP00000486463.1:p.Ser892Pro
ENST00000644458.1:c.2674T>C (SYNGAP1) ENSP00000495541.1:p.Ser892Pro
ENST00000645250.1:c.2497T>C (SYNGAP1) ENSP00000494861.1:p.Ser833Pro
ENST00000646630.1:c.2674T>C (SYNGAP1) MANE Select ENSP00000496007.1:p.Ser892Pro
ENST00000293748.9:c.2629T>C (SYNGAP1) ENSP00000293748.6:p.Ser877Pro
ENST00000418600.6:c.2674T>C (SYNGAP1) ENSP00000403636.3:p.Ser892Pro
ENST00000428982.4:c.2497T>C (SYNGAP1) ENSP00000412475.2:p.Ser833Pro
ENST00000449372.6:c.2632T>C (SYNGAP1) ENSP00000416519.3:p.Ser878Pro
ENST00000628646.2:c.2674T>C (SYNGAP1) ENSP00000486431.1:p.Ser892Pro
ENST00000629380.2:c.2674T>C (SYNGAP1) ENSP00000486463.1:p.Ser892Pro
NM_006772.2:c.2674T>C (SYNGAP1) NP_006763.2:p.Ser892Pro
NM_001130066.1:c.2632T>C (SYNGAP1) NP_001123538.1:p.Ser878Pro
NM_001130066.2:c.2632T>C (SYNGAP1) NP_001123538.1:p.Ser878Pro
NM_006772.3:c.2674T>C (SYNGAP1) MANE Select NP_006763.2:p.Ser892Pro
NR_174954.1:n.329+3380A>G (SYNGAP1-AS1)