Canonical Allele Identifier: CA1879893516

Gene: STXBP1 PTRH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127690806G= , CM000671.2:g.127690806G=	GRCh38
NC_000009.11:g.130453085G= , CM000671.1:g.130453085G=	GRCh37
NC_000009.10:g.129492906G=	NCBI36
NG_016623.1:g.83600G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000704680.1:c.1692G= (STXBP1)	ENSP00000515991.1:p.Leu564=
ENST00000704681.1:c.1805G= (STXBP1)	ENSP00000515992.1:n.1805G=
ENST00000373299.5:c.1734G= (STXBP1) MANE Select	ENSP00000362396.2:p.Leu578=
ENST00000373302.8:c.*48G= (STXBP1) MANE Plus Clinical	ENSP00000362399.3:n.*48G=
ENST00000626539.3:c.1692G= (STXBP1)	ENSP00000487211.2:p.Leu564=
ENST00000635950.2:c.1703-4188G= (STXBP1)	ENSP00000490903.1:n.1703-4188G=
ENST00000636509.2:c.*689G= (STXBP1)	ENSP00000490810.1:n.*689G=
ENST00000636962.2:c.1703-4188G= (STXBP1)	ENSP00000489762.1:n.1703-4188G=
ENST00000637060.2:c.*1376G= (STXBP1)	ENSP00000490674.2:n.*1376G=
ENST00000637173.2:c.1692G= (STXBP1)	ENSP00000490519.1:p.Leu564=
ENST00000637464.2:c.*2598G= (STXBP1)	ENSP00000489655.2:n.*2598G=
ENST00000637521.2:c.*48G= (STXBP1)	ENSP00000489791.1:n.*48G=
ENST00000637953.1:c.*80G= (STXBP1)	ENSP00000490613.1:n.*80G=
ENST00000641641.1:c.52C= (PTRH1)	ENSP00000492921.1:p.Gln18=
ENST00000650920.1:c.*48G= (STXBP1)	ENSP00000498834.1:n.*48G=
ENST00000373299.4:c.1734G= (STXBP1)	ENSP00000362396.1:p.Leu578=
ENST00000373302.7:c.*48G= (STXBP1)	ENSP00000362399.3:n.*48G=
ENST00000626416.2:n.1570G= (STXBP1)
ENST00000628638.1:n.326G= (STXBP1)
ENST00000628768.1:n.673G= (STXBP1)
NM_001032221.3:c.1734G= (STXBP1)	NP_001027392.1:p.Leu578=
NM_003165.3:c.*48G= (STXBP1)	NP_003156.1:n.*48G=
NM_001032221.6:c.1734G= (STXBP1) MANE Select	NP_001027392.1:p.Leu578=
NM_001374306.2:c.1725G= (STXBP1)	NP_001361235.1:p.Leu575=
NM_001374307.2:c.*48G= (STXBP1)	NP_001361236.1:n.*48G=
NM_001374308.2:c.*48G= (STXBP1)	NP_001361237.1:n.*48G=
NM_001374309.2:c.1692G= (STXBP1)	NP_001361238.1:p.Leu564=
NM_001374310.2:c.1692G= (STXBP1)	NP_001361239.1:p.Leu564=
NM_001374311.2:c.1692G= (STXBP1)	NP_001361240.1:p.Leu564=
NM_001374312.2:c.1692G= (STXBP1)	NP_001361241.1:p.Leu564=
NM_001374313.2:c.*80G= (STXBP1)	NP_001361242.1:n.*80G=
NM_001374314.1:c.1703-4188G= (STXBP1)	NP_001361243.1:n.1703-4188G=
NM_001374315.2:c.*48G= (STXBP1)	NP_001361244.1:n.*48G=
NM_003165.6:c.*48G= (STXBP1) MANE Plus Clinical	NP_003156.1:n.*48G=