Canonical Allele Identifier: CA915947201

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 802514
• ClinVar RCV Id: RCV000988255
• dbSNP Id: rs1588339898

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127675929del , CM000671.2:g.127675929del	GRCh38
NC_000009.11:g.130438208del , CM000671.1:g.130438208del	GRCh37
NC_000009.10:g.129478029del	NCBI36
NG_016623.1:g.68723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1194del	ENSP00000515991.1:p.Leu400Ter
ENST00000704681.1:c.1194+42del	ENSP00000515992.1:n.1194+42del
ENST00000373299.5:c.1236del MANE Select	ENSP00000362396.2:p.Leu414Ter
ENST00000373302.8:c.1236del MANE Plus Clinical	ENSP00000362399.3:p.Leu414Ter
ENST00000626539.3:c.1194del	ENSP00000487211.2:p.Leu400Ter
ENST00000635950.2:c.1236del	ENSP00000490903.1:p.Leu414Ter
ENST00000636509.2:c.*191del	ENSP00000490810.1:n.*191del
ENST00000636962.2:c.1236del	ENSP00000489762.1:p.Leu414Ter
ENST00000637060.2:c.*878del	ENSP00000490674.2:n.*878del
ENST00000637173.2:c.1194del	ENSP00000490519.1:p.Leu400Ter
ENST00000637464.2:c.*2100del	ENSP00000489655.2:n.*2100del
ENST00000637521.2:c.1194del	ENSP00000489791.1:p.Leu400Ter
ENST00000637953.1:c.1236del	ENSP00000490613.1:p.Leu414Ter
ENST00000647107.1:c.1178del
ENST00000650920.1:c.1194del	ENSP00000498834.1:p.Leu400Ter
ENST00000373299.4:c.1236del	ENSP00000362396.1:p.Leu414Ter
ENST00000373302.7:c.1236del	ENSP00000362399.3:p.Leu414Ter
ENST00000626416.2:n.1072del
NM_001032221.3:c.1236del	NP_001027392.1:p.Leu414Ter
NM_003165.3:c.1236del	NP_003156.1:p.Leu414Ter
NM_001032221.6:c.1236del MANE Select	NP_001027392.1:p.Leu414Ter
NM_001374306.2:c.1227del	NP_001361235.1:p.Leu411Ter
NM_001374307.2:c.1194del	NP_001361236.1:p.Leu400Ter
NM_001374308.2:c.1194del	NP_001361237.1:p.Leu400Ter
NM_001374309.2:c.1194del	NP_001361238.1:p.Leu400Ter
NM_001374310.2:c.1194del	NP_001361239.1:p.Leu400Ter
NM_001374311.2:c.1194del	NP_001361240.1:p.Leu400Ter
NM_001374312.2:c.1194del	NP_001361241.1:p.Leu400Ter
NM_001374313.2:c.1236del	NP_001361242.1:p.Leu414Ter
NM_001374314.1:c.1236del	NP_001361243.1:p.Leu414Ter
NM_001374315.2:c.1128del	NP_001361244.1:p.Leu378Ter
NM_003165.6:c.1236del MANE Plus Clinical	NP_003156.1:p.Leu414Ter