Canonical Allele Identifier: CA374943474

Gene: STXBP1 PTRH1

Linked Data

• gnomAD v4: 9-127690814-C-T
• MyVariant Identifiers: chr9:g.130453093C>T (hg19) ; chr9:g.127690814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127690814C>T , CM000671.2:g.127690814C>T	GRCh38
NC_000009.11:g.130453093C>T , CM000671.1:g.130453093C>T	GRCh37
NC_000009.10:g.129492914C>T	NCBI36
NG_016623.1:g.83608C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704680.1:c.1700C>T (STXBP1)	ENSP00000515991.1:p.Thr567Ile
ENST00000704681.1:c.1813C>T (STXBP1)	ENSP00000515992.1:n.1813C>T
ENST00000373299.5:c.1742C>T (STXBP1) MANE Select	ENSP00000362396.2:p.Thr581Ile
ENST00000373302.8:c.*56C>T (STXBP1) MANE Plus Clinical	ENSP00000362399.3:n.*56C>T
ENST00000626539.3:c.1700C>T (STXBP1)	ENSP00000487211.2:p.Thr567Ile
ENST00000635950.2:c.1703-4180C>T (STXBP1)	ENSP00000490903.1:n.1703-4180C>T
ENST00000636509.2:c.*697C>T (STXBP1)	ENSP00000490810.1:n.*697C>T
ENST00000636962.2:c.1703-4180C>T (STXBP1)	ENSP00000489762.1:n.1703-4180C>T
ENST00000637060.2:c.*1384C>T (STXBP1)	ENSP00000490674.2:n.*1384C>T
ENST00000637173.2:c.1700C>T (STXBP1)	ENSP00000490519.1:p.Thr567Ile
ENST00000637464.2:c.*2606C>T (STXBP1)	ENSP00000489655.2:n.*2606C>T
ENST00000637521.2:c.*56C>T (STXBP1)	ENSP00000489791.1:n.*56C>T
ENST00000637953.1:c.*88C>T (STXBP1)	ENSP00000490613.1:n.*88C>T
ENST00000641641.1:c.44G>A (PTRH1)	ENSP00000492921.1:p.Cys15Tyr
ENST00000650920.1:c.*56C>T (STXBP1)	ENSP00000498834.1:n.*56C>T
ENST00000373299.4:c.1742C>T (STXBP1)	ENSP00000362396.1:p.Thr581Ile
ENST00000373302.7:c.*56C>T (STXBP1)	ENSP00000362399.3:n.*56C>T
ENST00000626416.2:n.1578C>T (STXBP1)
ENST00000628638.1:n.334C>T (STXBP1)
ENST00000628768.1:n.681C>T (STXBP1)
NM_001032221.3:c.1742C>T (STXBP1)	NP_001027392.1:p.Thr581Ile
NM_003165.3:c.*56C>T (STXBP1)	NP_003156.1:n.*56C>T
NM_001032221.6:c.1742C>T (STXBP1) MANE Select	NP_001027392.1:p.Thr581Ile
NM_001374306.2:c.1733C>T (STXBP1)	NP_001361235.1:p.Thr578Ile
NM_001374307.2:c.*56C>T (STXBP1)	NP_001361236.1:n.*56C>T
NM_001374308.2:c.*56C>T (STXBP1)	NP_001361237.1:n.*56C>T
NM_001374309.2:c.1700C>T (STXBP1)	NP_001361238.1:p.Thr567Ile
NM_001374310.2:c.1700C>T (STXBP1)	NP_001361239.1:p.Thr567Ile
NM_001374311.2:c.1700C>T (STXBP1)	NP_001361240.1:p.Thr567Ile
NM_001374312.2:c.1700C>T (STXBP1)	NP_001361241.1:p.Thr567Ile
NM_001374313.2:c.*88C>T (STXBP1)	NP_001361242.1:n.*88C>T
NM_001374314.1:c.1703-4180C>T (STXBP1)	NP_001361243.1:n.1703-4180C>T
NM_001374315.2:c.*56C>T (STXBP1)	NP_001361244.1:n.*56C>T
NM_003165.6:c.*56C>T (STXBP1) MANE Plus Clinical	NP_003156.1:n.*56C>T