Canonical Allele Identifier: CA467234522

Linked Data

MyVariant Identifiers: chr9:g.130452996G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127690717G>T , CM000671.2:g.127690717G>T GRCh38
NC_000009.11:g.130452996G>T , CM000671.1:g.130452996G>T GRCh37
NC_000009.10:g.129492817G>T NCBI36
NG_016623.1:g.83511G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704680.1:c.1661-58G>T (STXBP1) ENSP00000515991.1:n.1661-58G>T
ENST00000704681.1:c.1774-58G>T (STXBP1) ENSP00000515992.1:n.1774-58G>T
ENST00000373299.5:c.1703-58G>T (STXBP1) MANE Select ENSP00000362396.2:n.1703-58G>T
ENST00000373302.8:c.*17-58G>T (STXBP1) MANE Plus Clinical ENSP00000362399.3:n.*17-58G>T
ENST00000626539.3:c.1661-58G>T (STXBP1) ENSP00000487211.2:n.1661-58G>T
ENST00000635950.2:c.1703-4277G>T (STXBP1) ENSP00000490903.1:n.1703-4277G>T
ENST00000636509.2:c.*658-58G>T (STXBP1) ENSP00000490810.1:n.*658-58G>T
ENST00000636962.2:c.1703-4277G>T (STXBP1) ENSP00000489762.1:n.1703-4277G>T
ENST00000637060.2:c.*1345-58G>T (STXBP1) ENSP00000490674.2:n.*1345-58G>T
ENST00000637173.2:c.1661-58G>T (STXBP1) ENSP00000490519.1:n.1661-58G>T
ENST00000637464.2:c.*2567-58G>T (STXBP1) ENSP00000489655.2:n.*2567-58G>T
ENST00000637521.2:c.*17-58G>T (STXBP1) ENSP00000489791.1:n.*17-58G>T
ENST00000637953.1:c.*49-58G>T (STXBP1) ENSP00000490613.1:n.*49-58G>T
ENST00000641641.1:c.141C>A (PTRH1) ENSP00000492921.1:n.141C>A
ENST00000650920.1:c.*17-58G>T (STXBP1) ENSP00000498834.1:n.*17-58G>T
ENST00000373299.4:c.1703-58G>T (STXBP1) ENSP00000362396.1:n.1703-58G>T
ENST00000373302.7:c.*17-58G>T (STXBP1) ENSP00000362399.3:n.*17-58G>T
ENST00000626416.2:n.1539-58G>T (STXBP1)
ENST00000628638.1:n.295-58G>T (STXBP1)
ENST00000628768.1:n.584G>T (STXBP1)
NM_001032221.3:c.1703-58G>T (STXBP1) NP_001027392.1:n.1703-58G>T
NM_003165.3:c.*17-58G>T (STXBP1) NP_003156.1:n.*17-58G>T
NR_037473.1:n.79C>A (MIR3911)
NM_001032221.6:c.1703-58G>T (STXBP1) MANE Select NP_001027392.1:n.1703-58G>T
NM_001374306.2:c.1694-58G>T (STXBP1) NP_001361235.1:n.1694-58G>T
NM_001374307.2:c.*17-58G>T (STXBP1) NP_001361236.1:n.*17-58G>T
NM_001374308.2:c.*17-58G>T (STXBP1) NP_001361237.1:n.*17-58G>T
NM_001374309.2:c.1661-58G>T (STXBP1) NP_001361238.1:n.1661-58G>T
NM_001374310.2:c.1661-58G>T (STXBP1) NP_001361239.1:n.1661-58G>T
NM_001374311.2:c.1661-58G>T (STXBP1) NP_001361240.1:n.1661-58G>T
NM_001374312.2:c.1661-58G>T (STXBP1) NP_001361241.1:n.1661-58G>T
NM_001374313.2:c.*49-58G>T (STXBP1) NP_001361242.1:n.*49-58G>T
NM_001374314.1:c.1703-4277G>T (STXBP1) NP_001361243.1:n.1703-4277G>T
NM_001374315.2:c.*17-58G>T (STXBP1) NP_001361244.1:n.*17-58G>T
NM_003165.6:c.*17-58G>T (STXBP1) MANE Plus Clinical NP_003156.1:n.*17-58G>T