Canonical Allele Identifier: CA318864
Community Standard Title: NM_001032221.6(STXBP1):c.904G>T (p.Glu302Ter)
Gene: STXBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127669899G>T , CM000671.2:g.127669899G>T GRCh38
NC_000009.11:g.130432178G>T , CM000671.1:g.130432178G>T GRCh37
NC_000009.10:g.129471999G>T NCBI36
NG_016623.1:g.62693G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001032221.6:c.904G>T MANE Select NP_001027392.1:p.Glu302Ter
ENST00000373299.5:c.904G>T MANE Select ENSP00000362396.2:p.Glu302Ter
NM_003165.6:c.904G>T MANE Plus Clinical NP_003156.1:p.Glu302Ter
ENST00000373302.8:c.904G>T MANE Plus Clinical ENSP00000362399.3:p.Glu302Ter
NM_001032221.3:c.904G>T NP_001027392.1:p.Glu302Ter
NM_001374306.2:c.895G>T NP_001361235.1:p.Glu299Ter
NM_001374307.2:c.862G>T NP_001361236.1:p.Glu288Ter
NM_001374308.2:c.862G>T NP_001361237.1:p.Glu288Ter
NM_001374309.2:c.862G>T NP_001361238.1:p.Glu288Ter
NM_001374310.2:c.862G>T NP_001361239.1:p.Glu288Ter
NM_001374311.2:c.862G>T NP_001361240.1:p.Glu288Ter
NM_001374312.2:c.862G>T NP_001361241.1:p.Glu288Ter
NM_001374313.2:c.904G>T NP_001361242.1:p.Glu302Ter
NM_001374314.1:c.904G>T NP_001361243.1:p.Glu302Ter
NM_001374315.2:c.796G>T NP_001361244.1:p.Glu266Ter
NM_003165.3:c.904G>T NP_003156.1:p.Glu302Ter
ENST00000373299.4:c.904G>T ENSP00000362396.1:p.Glu302Ter
ENST00000373302.7:c.904G>T ENSP00000362399.3:p.Glu302Ter
ENST00000626416.2:n.740G>T
ENST00000626539.3:c.862G>T ENSP00000487211.2:p.Glu288Ter
ENST00000635950.2:c.904G>T ENSP00000490903.1:p.Glu302Ter
ENST00000636509.2:c.862G>T ENSP00000490810.1:p.Glu288Ter
ENST00000636962.2:c.904G>T ENSP00000489762.1:p.Glu302Ter
ENST00000637060.2:c.*546G>T ENSP00000490674.2:n.*546G>T
ENST00000637173.2:c.862G>T ENSP00000490519.1:p.Glu288Ter
ENST00000637464.2:c.*1768G>T ENSP00000489655.2:n.*1768G>T
ENST00000637521.2:c.862G>T ENSP00000489791.1:p.Glu288Ter
ENST00000637953.1:c.904G>T ENSP00000490613.1:p.Glu302Ter
ENST00000647107.1:c.846G>T
ENST00000650920.1:c.862G>T ENSP00000498834.1:p.Glu288Ter
ENST00000704680.1:c.862G>T ENSP00000515991.1:p.Glu288Ter
ENST00000704681.1:c.904G>T ENSP00000515992.1:p.Glu302Ter