Canonical Allele Identifier: CA1879887491
Gene: STXBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127682408C= , CM000671.2:g.127682408C= GRCh38
NC_000009.11:g.130444687C= , CM000671.1:g.130444687C= GRCh37
NC_000009.10:g.129484508C= NCBI36
NG_016623.1:g.75202C=

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.1508C= ENSP00000515991.1:p.Ala503=
ENST00000704681.1:c.1495C= ENSP00000515992.1:n.1495C=
ENST00000373299.5:c.1550C= MANE Select ENSP00000362396.2:p.Ala517=
ENST00000373302.8:c.1550C= MANE Plus Clinical ENSP00000362399.3:p.Ala517=
ENST00000626539.3:c.1508C= ENSP00000487211.2:p.Ala503=
ENST00000635950.2:c.1550C= ENSP00000490903.1:p.Ala517=
ENST00000636509.2:c.*505C= ENSP00000490810.1:n.*505C=
ENST00000636962.2:c.1550C= ENSP00000489762.1:p.Ala517=
ENST00000637060.2:c.*1192C= ENSP00000490674.2:n.*1192C=
ENST00000637173.2:c.1508C= ENSP00000490519.1:p.Ala503=
ENST00000637464.2:c.*2414C= ENSP00000489655.2:n.*2414C=
ENST00000637521.2:c.1508C= ENSP00000489791.1:p.Ala503=
ENST00000637953.1:c.1550C= ENSP00000490613.1:p.Ala517=
ENST00000647107.1:c.1492C=
ENST00000650920.1:c.1508C= ENSP00000498834.1:p.Ala503=
ENST00000373299.4:c.1550C= ENSP00000362396.1:p.Ala517=
ENST00000373302.7:c.1550C= ENSP00000362399.3:p.Ala517=
ENST00000494254.3:c.98C= ENSP00000485397.1:p.Ala33=
ENST00000626416.2:n.1386C=
ENST00000628638.1:n.142C=
NM_001032221.3:c.1550C= NP_001027392.1:p.Ala517=
NM_003165.3:c.1550C= NP_003156.1:p.Ala517=
NM_001032221.6:c.1550C= MANE Select NP_001027392.1:p.Ala517=
NM_001374306.2:c.1541C= NP_001361235.1:p.Ala514=
NM_001374307.2:c.1508C= NP_001361236.1:p.Ala503=
NM_001374308.2:c.1508C= NP_001361237.1:p.Ala503=
NM_001374309.2:c.1508C= NP_001361238.1:p.Ala503=
NM_001374310.2:c.1508C= NP_001361239.1:p.Ala503=
NM_001374311.2:c.1508C= NP_001361240.1:p.Ala503=
NM_001374312.2:c.1508C= NP_001361241.1:p.Ala503=
NM_001374313.2:c.1550C= NP_001361242.1:p.Ala517=
NM_001374314.1:c.1550C= NP_001361243.1:p.Ala517=
NM_001374315.2:c.1442C= NP_001361244.1:p.Ala481=
NM_003165.6:c.1550C= MANE Plus Clinical NP_003156.1:p.Ala517=