Canonical Allele Identifier: CA467234757

Linked Data

MyVariant Identifiers: chr9:g.130453064C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127690785C>T , CM000671.2:g.127690785C>T GRCh38
NC_000009.11:g.130453064C>T , CM000671.1:g.130453064C>T GRCh37
NC_000009.10:g.129492885C>T NCBI36
NG_016623.1:g.83579C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704680.1:c.1671C>T (STXBP1) ENSP00000515991.1:p.His557=
ENST00000704681.1:c.1784C>T (STXBP1) ENSP00000515992.1:n.1784C>T
ENST00000373299.5:c.1713C>T (STXBP1) MANE Select ENSP00000362396.2:p.His571=
ENST00000373302.8:c.*27C>T (STXBP1) MANE Plus Clinical ENSP00000362399.3:n.*27C>T
ENST00000626539.3:c.1671C>T (STXBP1) ENSP00000487211.2:p.His557=
ENST00000635950.2:c.1703-4209C>T (STXBP1) ENSP00000490903.1:n.1703-4209C>T
ENST00000636509.2:c.*668C>T (STXBP1) ENSP00000490810.1:n.*668C>T
ENST00000636962.2:c.1703-4209C>T (STXBP1) ENSP00000489762.1:n.1703-4209C>T
ENST00000637060.2:c.*1355C>T (STXBP1) ENSP00000490674.2:n.*1355C>T
ENST00000637173.2:c.1671C>T (STXBP1) ENSP00000490519.1:p.His557=
ENST00000637464.2:c.*2577C>T (STXBP1) ENSP00000489655.2:n.*2577C>T
ENST00000637521.2:c.*27C>T (STXBP1) ENSP00000489791.1:n.*27C>T
ENST00000637953.1:c.*59C>T (STXBP1) ENSP00000490613.1:n.*59C>T
ENST00000641641.1:c.73G>A (PTRH1) ENSP00000492921.1:p.Val25Met
ENST00000650920.1:c.*27C>T (STXBP1) ENSP00000498834.1:n.*27C>T
ENST00000373299.4:c.1713C>T (STXBP1) ENSP00000362396.1:p.His571=
ENST00000373302.7:c.*27C>T (STXBP1) ENSP00000362399.3:n.*27C>T
ENST00000626416.2:n.1549C>T (STXBP1)
ENST00000628638.1:n.305C>T (STXBP1)
ENST00000628768.1:n.652C>T (STXBP1)
NM_001032221.3:c.1713C>T (STXBP1) NP_001027392.1:p.His571=
NM_003165.3:c.*27C>T (STXBP1) NP_003156.1:n.*27C>T
NR_037473.1:n.11G>A (MIR3911)
NM_001032221.6:c.1713C>T (STXBP1) MANE Select NP_001027392.1:p.His571=
NM_001374306.2:c.1704C>T (STXBP1) NP_001361235.1:p.His568=
NM_001374307.2:c.*27C>T (STXBP1) NP_001361236.1:n.*27C>T
NM_001374308.2:c.*27C>T (STXBP1) NP_001361237.1:n.*27C>T
NM_001374309.2:c.1671C>T (STXBP1) NP_001361238.1:p.His557=
NM_001374310.2:c.1671C>T (STXBP1) NP_001361239.1:p.His557=
NM_001374311.2:c.1671C>T (STXBP1) NP_001361240.1:p.His557=
NM_001374312.2:c.1671C>T (STXBP1) NP_001361241.1:p.His557=
NM_001374313.2:c.*59C>T (STXBP1) NP_001361242.1:n.*59C>T
NM_001374314.1:c.1703-4209C>T (STXBP1) NP_001361243.1:n.1703-4209C>T
NM_001374315.2:c.*27C>T (STXBP1) NP_001361244.1:n.*27C>T
NM_003165.6:c.*27C>T (STXBP1) MANE Plus Clinical NP_003156.1:n.*27C>T