Canonical Allele Identifier: CA374943405

Gene: STXBP1 PTRH1

Linked Data

• MyVariant Identifiers: chr9:g.130453087T>A (hg19) ; chr9:g.127690808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127690808T>A , CM000671.2:g.127690808T>A	GRCh38
NC_000009.11:g.130453087T>A , CM000671.1:g.130453087T>A	GRCh37
NC_000009.10:g.129492908T>A	NCBI36
NG_016623.1:g.83602T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704680.1:c.1694T>A (STXBP1)	ENSP00000515991.1:p.Leu565Gln
ENST00000704681.1:c.1807T>A (STXBP1)	ENSP00000515992.1:n.1807T>A
ENST00000373299.5:c.1736T>A (STXBP1) MANE Select	ENSP00000362396.2:p.Leu579Gln
ENST00000373302.8:c.*50T>A (STXBP1) MANE Plus Clinical	ENSP00000362399.3:n.*50T>A
ENST00000626539.3:c.1694T>A (STXBP1)	ENSP00000487211.2:p.Leu565Gln
ENST00000635950.2:c.1703-4186T>A (STXBP1)	ENSP00000490903.1:n.1703-4186T>A
ENST00000636509.2:c.*691T>A (STXBP1)	ENSP00000490810.1:n.*691T>A
ENST00000636962.2:c.1703-4186T>A (STXBP1)	ENSP00000489762.1:n.1703-4186T>A
ENST00000637060.2:c.*1378T>A (STXBP1)	ENSP00000490674.2:n.*1378T>A
ENST00000637173.2:c.1694T>A (STXBP1)	ENSP00000490519.1:p.Leu565Gln
ENST00000637464.2:c.*2600T>A (STXBP1)	ENSP00000489655.2:n.*2600T>A
ENST00000637521.2:c.*50T>A (STXBP1)	ENSP00000489791.1:n.*50T>A
ENST00000637953.1:c.*82T>A (STXBP1)	ENSP00000490613.1:n.*82T>A
ENST00000641641.1:c.50A>T (PTRH1)	ENSP00000492921.1:p.Gln17Leu
ENST00000650920.1:c.*50T>A (STXBP1)	ENSP00000498834.1:n.*50T>A
ENST00000373299.4:c.1736T>A (STXBP1)	ENSP00000362396.1:p.Leu579Gln
ENST00000373302.7:c.*50T>A (STXBP1)	ENSP00000362399.3:n.*50T>A
ENST00000626416.2:n.1572T>A (STXBP1)
ENST00000628638.1:n.328T>A (STXBP1)
ENST00000628768.1:n.675T>A (STXBP1)
NM_001032221.3:c.1736T>A (STXBP1)	NP_001027392.1:p.Leu579Gln
NM_003165.3:c.*50T>A (STXBP1)	NP_003156.1:n.*50T>A
NM_001032221.6:c.1736T>A (STXBP1) MANE Select	NP_001027392.1:p.Leu579Gln
NM_001374306.2:c.1727T>A (STXBP1)	NP_001361235.1:p.Leu576Gln
NM_001374307.2:c.*50T>A (STXBP1)	NP_001361236.1:n.*50T>A
NM_001374308.2:c.*50T>A (STXBP1)	NP_001361237.1:n.*50T>A
NM_001374309.2:c.1694T>A (STXBP1)	NP_001361238.1:p.Leu565Gln
NM_001374310.2:c.1694T>A (STXBP1)	NP_001361239.1:p.Leu565Gln
NM_001374311.2:c.1694T>A (STXBP1)	NP_001361240.1:p.Leu565Gln
NM_001374312.2:c.1694T>A (STXBP1)	NP_001361241.1:p.Leu565Gln
NM_001374313.2:c.*82T>A (STXBP1)	NP_001361242.1:n.*82T>A
NM_001374314.1:c.1703-4186T>A (STXBP1)	NP_001361243.1:n.1703-4186T>A
NM_001374315.2:c.*50T>A (STXBP1)	NP_001361244.1:n.*50T>A
NM_003165.6:c.*50T>A (STXBP1) MANE Plus Clinical	NP_003156.1:n.*50T>A