Canonical Allele Identifier: CA374943398

Gene: STXBP1 PTRH1

Linked Data

• ClinVar Variation Id: 1712189
• ClinVar RCV Id: RCV002293907
• gnomAD v4: 9-127690804-C-G
• MyVariant Identifiers: chr9:g.130453083C>G (hg19) ; chr9:g.127690804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127690804C>G , CM000671.2:g.127690804C>G	GRCh38
NC_000009.11:g.130453083C>G , CM000671.1:g.130453083C>G	GRCh37
NC_000009.10:g.129492904C>G	NCBI36
NG_016623.1:g.83598C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704680.1:c.1690C>G (STXBP1)	ENSP00000515991.1:p.Leu564Val
ENST00000704681.1:c.1803C>G (STXBP1)	ENSP00000515992.1:n.1803C>G
ENST00000373299.5:c.1732C>G (STXBP1) MANE Select	ENSP00000362396.2:p.Leu578Val
ENST00000373302.8:c.*46C>G (STXBP1) MANE Plus Clinical	ENSP00000362399.3:n.*46C>G
ENST00000626539.3:c.1690C>G (STXBP1)	ENSP00000487211.2:p.Leu564Val
ENST00000635950.2:c.1703-4190C>G (STXBP1)	ENSP00000490903.1:n.1703-4190C>G
ENST00000636509.2:c.*687C>G (STXBP1)	ENSP00000490810.1:n.*687C>G
ENST00000636962.2:c.1703-4190C>G (STXBP1)	ENSP00000489762.1:n.1703-4190C>G
ENST00000637060.2:c.*1374C>G (STXBP1)	ENSP00000490674.2:n.*1374C>G
ENST00000637173.2:c.1690C>G (STXBP1)	ENSP00000490519.1:p.Leu564Val
ENST00000637464.2:c.*2596C>G (STXBP1)	ENSP00000489655.2:n.*2596C>G
ENST00000637521.2:c.*46C>G (STXBP1)	ENSP00000489791.1:n.*46C>G
ENST00000637953.1:c.*78C>G (STXBP1)	ENSP00000490613.1:n.*78C>G
ENST00000641641.1:c.54G>C (PTRH1)	ENSP00000492921.1:p.Gln18His
ENST00000650920.1:c.*46C>G (STXBP1)	ENSP00000498834.1:n.*46C>G
ENST00000373299.4:c.1732C>G (STXBP1)	ENSP00000362396.1:p.Leu578Val
ENST00000373302.7:c.*46C>G (STXBP1)	ENSP00000362399.3:n.*46C>G
ENST00000626416.2:n.1568C>G (STXBP1)
ENST00000628638.1:n.324C>G (STXBP1)
ENST00000628768.1:n.671C>G (STXBP1)
NM_001032221.3:c.1732C>G (STXBP1)	NP_001027392.1:p.Leu578Val
NM_003165.3:c.*46C>G (STXBP1)	NP_003156.1:n.*46C>G
NM_001032221.6:c.1732C>G (STXBP1) MANE Select	NP_001027392.1:p.Leu578Val
NM_001374306.2:c.1723C>G (STXBP1)	NP_001361235.1:p.Leu575Val
NM_001374307.2:c.*46C>G (STXBP1)	NP_001361236.1:n.*46C>G
NM_001374308.2:c.*46C>G (STXBP1)	NP_001361237.1:n.*46C>G
NM_001374309.2:c.1690C>G (STXBP1)	NP_001361238.1:p.Leu564Val
NM_001374310.2:c.1690C>G (STXBP1)	NP_001361239.1:p.Leu564Val
NM_001374311.2:c.1690C>G (STXBP1)	NP_001361240.1:p.Leu564Val
NM_001374312.2:c.1690C>G (STXBP1)	NP_001361241.1:p.Leu564Val
NM_001374313.2:c.*78C>G (STXBP1)	NP_001361242.1:n.*78C>G
NM_001374314.1:c.1703-4190C>G (STXBP1)	NP_001361243.1:n.1703-4190C>G
NM_001374315.2:c.*46C>G (STXBP1)	NP_001361244.1:n.*46C>G
NM_003165.6:c.*46C>G (STXBP1) MANE Plus Clinical	NP_003156.1:n.*46C>G