Canonical Allele Identifier: CA374931775

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 1927381
• ClinVar RCV Id: RCV002609846
• MyVariant Identifiers: chr9:g.130422356A>C (hg19) ; chr9:g.127660077A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127660077A>C , CM000671.2:g.127660077A>C	GRCh38
NC_000009.11:g.130422356A>C , CM000671.1:g.130422356A>C	GRCh37
NC_000009.10:g.129462177A>C	NCBI36
NG_016623.1:g.52871A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.252A>C	ENSP00000515991.1:p.Lys84Asn
ENST00000704681.1:c.294A>C	ENSP00000515992.1:p.Lys98Asn
ENST00000373299.5:c.294A>C MANE Select	ENSP00000362396.2:p.Lys98Asn
ENST00000373302.8:c.294A>C MANE Plus Clinical	ENSP00000362399.3:p.Lys98Asn
ENST00000626539.3:c.252A>C	ENSP00000487211.2:p.Lys84Asn
ENST00000635950.2:c.294A>C	ENSP00000490903.1:p.Lys98Asn
ENST00000636509.2:c.252A>C	ENSP00000490810.1:p.Lys84Asn
ENST00000636962.2:c.294A>C	ENSP00000489762.1:p.Lys98Asn
ENST00000637060.2:c.317A>C	ENSP00000490674.2:p.Asn106Thr
ENST00000637173.2:c.252A>C	ENSP00000490519.1:p.Lys84Asn
ENST00000637464.2:c.*1158A>C	ENSP00000489655.2:n.*1158A>C
ENST00000637521.2:c.252A>C	ENSP00000489791.1:p.Lys84Asn
ENST00000637953.1:c.294A>C	ENSP00000490613.1:p.Lys98Asn
ENST00000647107.1:c.236A>C
ENST00000650920.1:c.252A>C	ENSP00000498834.1:p.Lys84Asn
ENST00000373299.4:c.294A>C	ENSP00000362396.1:p.Lys98Asn
ENST00000373302.7:c.294A>C	ENSP00000362399.3:p.Lys98Asn
ENST00000625363.2:c.252A>C	ENSP00000486944.1:p.Lys84Asn
ENST00000626333.1:c.252A>C	ENSP00000486814.1:p.Lys84Asn
ENST00000626539.2:c.252A>C	ENSP00000487211.1:p.Lys84Asn
ENST00000627871.2:c.183A>C	ENSP00000485895.1:p.Lys61Asn
ENST00000630492.2:c.252A>C	ENSP00000485680.1:p.Lys84Asn
NM_001032221.3:c.294A>C	NP_001027392.1:p.Lys98Asn
NM_003165.3:c.294A>C	NP_003156.1:p.Lys98Asn
NM_001032221.6:c.294A>C MANE Select	NP_001027392.1:p.Lys98Asn
NM_001374306.2:c.294A>C	NP_001361235.1:p.Lys98Asn
NM_001374307.2:c.252A>C	NP_001361236.1:p.Lys84Asn
NM_001374308.2:c.252A>C	NP_001361237.1:p.Lys84Asn
NM_001374309.2:c.252A>C	NP_001361238.1:p.Lys84Asn
NM_001374310.2:c.252A>C	NP_001361239.1:p.Lys84Asn
NM_001374311.2:c.252A>C	NP_001361240.1:p.Lys84Asn
NM_001374312.2:c.252A>C	NP_001361241.1:p.Lys84Asn
NM_001374313.2:c.294A>C	NP_001361242.1:p.Lys98Asn
NM_001374314.1:c.294A>C	NP_001361243.1:p.Lys98Asn
NM_001374315.2:c.294A>C	NP_001361244.1:p.Lys98Asn
NM_003165.6:c.294A>C MANE Plus Clinical	NP_003156.1:p.Lys98Asn