Canonical Allele Identifier: CA374937077
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070980
ClinVar RCV Id: RCV002959235

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127675912A>C , CM000671.2:g.127675912A>C GRCh38
NC_000009.11:g.130438191A>C , CM000671.1:g.130438191A>C GRCh37
NC_000009.10:g.129478012A>C NCBI36
NG_016623.1:g.68706A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704680.1:c.1177A>C ENSP00000515991.1:p.Ile393Leu
ENST00000704681.1:c.1194+25A>C ENSP00000515992.1:n.1194+25A>C
ENST00000373299.5:c.1219A>C MANE Select ENSP00000362396.2:p.Ile407Leu
ENST00000373302.8:c.1219A>C MANE Plus Clinical ENSP00000362399.3:p.Ile407Leu
ENST00000626539.3:c.1177A>C ENSP00000487211.2:p.Ile393Leu
ENST00000635950.2:c.1219A>C ENSP00000490903.1:p.Ile407Leu
ENST00000636509.2:c.*174A>C ENSP00000490810.1:n.*174A>C
ENST00000636962.2:c.1219A>C ENSP00000489762.1:p.Ile407Leu
ENST00000637060.2:c.*861A>C ENSP00000490674.2:n.*861A>C
ENST00000637173.2:c.1177A>C ENSP00000490519.1:p.Ile393Leu
ENST00000637464.2:c.*2083A>C ENSP00000489655.2:n.*2083A>C
ENST00000637521.2:c.1177A>C ENSP00000489791.1:p.Ile393Leu
ENST00000637953.1:c.1219A>C ENSP00000490613.1:p.Ile407Leu
ENST00000647107.1:c.1161A>C
ENST00000650920.1:c.1177A>C ENSP00000498834.1:p.Ile393Leu
ENST00000373299.4:c.1219A>C ENSP00000362396.1:p.Ile407Leu
ENST00000373302.7:c.1219A>C ENSP00000362399.3:p.Ile407Leu
ENST00000626416.2:n.1055A>C
NM_001032221.3:c.1219A>C NP_001027392.1:p.Ile407Leu
NM_003165.3:c.1219A>C NP_003156.1:p.Ile407Leu
NM_001032221.6:c.1219A>C MANE Select NP_001027392.1:p.Ile407Leu
NM_001374306.2:c.1210A>C NP_001361235.1:p.Ile404Leu
NM_001374307.2:c.1177A>C NP_001361236.1:p.Ile393Leu
NM_001374308.2:c.1177A>C NP_001361237.1:p.Ile393Leu
NM_001374309.2:c.1177A>C NP_001361238.1:p.Ile393Leu
NM_001374310.2:c.1177A>C NP_001361239.1:p.Ile393Leu
NM_001374311.2:c.1177A>C NP_001361240.1:p.Ile393Leu
NM_001374312.2:c.1177A>C NP_001361241.1:p.Ile393Leu
NM_001374313.2:c.1219A>C NP_001361242.1:p.Ile407Leu
NM_001374314.1:c.1219A>C NP_001361243.1:p.Ile407Leu
NM_001374315.2:c.1111A>C NP_001361244.1:p.Ile371Leu
NM_003165.6:c.1219A>C MANE Plus Clinical NP_003156.1:p.Ile407Leu