Canonical Allele Identifier: CA3135552218
Community Standard Title: NM_006772.3(SYNGAP1):c.2916T= (p.Pro972=)
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443468T= , CM000668.2:g.33443468T= GRCh38
NC_000006.11:g.33411245T= , CM000668.1:g.33411245T= GRCh37
NC_000006.10:g.33519223T= NCBI36
NG_016137.1:g.28399T=
NG_016137.2:g.28399T=

Transcript Alleles

HGVS Amino-acid Change
NM_006772.3:c.2916T= (SYNGAP1) MANE Select NP_006763.2:p.Pro972=
ENST00000646630.1:c.2916T= (SYNGAP1) MANE Select ENSP00000496007.1:p.Pro972=
NM_001130066.1:c.2874T= (SYNGAP1) NP_001123538.1:p.Pro958=
NM_001130066.2:c.2874T= (SYNGAP1) NP_001123538.1:p.Pro958=
NM_006772.2:c.2916T= (SYNGAP1) NP_006763.2:p.Pro972=
NR_174954.1:n.329+3138A= (SYNGAP1-AS1)
ENST00000293748.9:c.2871T= (SYNGAP1) ENSP00000293748.6:p.Pro957=
ENST00000418600.6:c.2916T= (SYNGAP1) ENSP00000403636.3:p.Pro972=
ENST00000418600.7:c.2916T= (SYNGAP1) ENSP00000403636.3:p.Pro972=
ENST00000428982.4:c.2739T= (SYNGAP1) ENSP00000412475.2:p.Pro913=
ENST00000449372.6:c.2874T= (SYNGAP1) ENSP00000416519.3:p.Pro958=
ENST00000449372.7:c.2874T= (SYNGAP1) ENSP00000416519.4:p.Pro958=
ENST00000628646.2:c.2916T= (SYNGAP1) ENSP00000486431.1:p.Pro972=
ENST00000629380.2:c.2916T= (SYNGAP1) ENSP00000486463.1:p.Pro972=
ENST00000629380.3:c.2916T= (SYNGAP1) ENSP00000486463.1:p.Pro972=
ENST00000644458.1:c.2916T= (SYNGAP1) ENSP00000495541.1:p.Pro972=
ENST00000645250.1:c.2739T= (SYNGAP1) ENSP00000494861.1:p.Pro913=
ENST00000682587.1:c.2658T= (SYNGAP1) ENSP00000507403.1:p.Pro886=