Canonical Allele Identifier: CA1879920628
Community Standard Title: NM_001032221.6(STXBP1):c.1328T= (p.Met443=)
Gene: STXBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127676722T= , CM000671.2:g.127676722T= GRCh38
NC_000009.11:g.130439001T= , CM000671.1:g.130439001T= GRCh37
NC_000009.10:g.129478822T= NCBI36
NG_016623.1:g.69516T=

Transcript Alleles

HGVS Amino-acid Change
NM_001032221.6:c.1328T= MANE Select NP_001027392.1:p.Met443=
ENST00000373299.5:c.1328T= MANE Select ENSP00000362396.2:p.Met443=
NM_003165.6:c.1328T= MANE Plus Clinical NP_003156.1:p.Met443=
ENST00000373302.8:c.1328T= MANE Plus Clinical ENSP00000362399.3:p.Met443=
NM_001032221.3:c.1328T= NP_001027392.1:p.Met443=
NM_001374306.2:c.1319T= NP_001361235.1:p.Met440=
NM_001374307.2:c.1286T= NP_001361236.1:p.Met429=
NM_001374308.2:c.1286T= NP_001361237.1:p.Met429=
NM_001374309.2:c.1286T= NP_001361238.1:p.Met429=
NM_001374310.2:c.1286T= NP_001361239.1:p.Met429=
NM_001374311.2:c.1286T= NP_001361240.1:p.Met429=
NM_001374312.2:c.1286T= NP_001361241.1:p.Met429=
NM_001374313.2:c.1328T= NP_001361242.1:p.Met443=
NM_001374314.1:c.1328T= NP_001361243.1:p.Met443=
NM_001374315.2:c.1220T= NP_001361244.1:p.Met407=
NM_003165.3:c.1328T= NP_003156.1:p.Met443=
ENST00000373299.4:c.1328T= ENSP00000362396.1:p.Met443=
ENST00000373302.7:c.1328T= ENSP00000362399.3:p.Met443=
ENST00000626416.2:n.1164T=
ENST00000626539.3:c.1286T= ENSP00000487211.2:p.Met429=
ENST00000635950.2:c.1328T= ENSP00000490903.1:p.Met443=
ENST00000636509.2:c.*283T= ENSP00000490810.1:n.*283T=
ENST00000636962.2:c.1328T= ENSP00000489762.1:p.Met443=
ENST00000637060.2:c.*970T= ENSP00000490674.2:n.*970T=
ENST00000637173.2:c.1286T= ENSP00000490519.1:p.Met429=
ENST00000637464.2:c.*2192T= ENSP00000489655.2:n.*2192T=
ENST00000637521.2:c.1286T= ENSP00000489791.1:p.Met429=
ENST00000637953.1:c.1328T= ENSP00000490613.1:p.Met443=
ENST00000647107.1:c.1270T=
ENST00000650920.1:c.1286T= ENSP00000498834.1:p.Met429=
ENST00000704680.1:c.1286T= ENSP00000515991.1:p.Met429=
ENST00000704681.1:c.1273T= ENSP00000515992.1:n.1273T=