Canonical Allele Identifier: CA16605571

Gene: STXBP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127678429A>G , CM000671.2:g.127678429A>G	GRCh38
NC_000009.11:g.130440708A>G , CM000671.1:g.130440708A>G	GRCh37
NC_000009.10:g.129480529A>G	NCBI36
NG_016623.1:g.71223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1318-2A>G	ENSP00000515991.1:n.1318-2A>G
ENST00000704681.1:c.1305-2A>G	ENSP00000515992.1:n.1305-2A>G
ENST00000373299.5:c.1360-2A>G MANE Select	ENSP00000362396.2:n.1360-2A>G
ENST00000373302.8:c.1360-2A>G MANE Plus Clinical	ENSP00000362399.3:n.1360-2A>G
ENST00000626539.3:c.1318-2A>G	ENSP00000487211.2:n.1318-2A>G
ENST00000635950.2:c.1360-2A>G	ENSP00000490903.1:n.1360-2A>G
ENST00000636509.2:c.*315-2A>G	ENSP00000490810.1:n.*315-2A>G
ENST00000636962.2:c.1360-2A>G	ENSP00000489762.1:n.1360-2A>G
ENST00000637060.2:c.*1002-2A>G	ENSP00000490674.2:n.*1002-2A>G
ENST00000637173.2:c.1318-2A>G	ENSP00000490519.1:n.1318-2A>G
ENST00000637464.2:c.*2224-2A>G	ENSP00000489655.2:n.*2224-2A>G
ENST00000637521.2:c.1318-2A>G	ENSP00000489791.1:n.1318-2A>G
ENST00000637953.1:c.1360-2A>G	ENSP00000490613.1:n.1360-2A>G
ENST00000647107.1:c.1302-2A>G
ENST00000650920.1:c.1318-2A>G	ENSP00000498834.1:n.1318-2A>G
ENST00000373299.4:c.1360-2A>G	ENSP00000362396.1:n.1360-2A>G
ENST00000373302.7:c.1360-2A>G	ENSP00000362399.3:n.1360-2A>G
ENST00000626416.2:n.1196-2A>G
NM_001032221.3:c.1360-2A>G	NP_001027392.1:n.1360-2A>G
NM_003165.3:c.1360-2A>G	NP_003156.1:n.1360-2A>G
NM_001032221.6:c.1360-2A>G MANE Select	NP_001027392.1:n.1360-2A>G
NM_001374306.2:c.1351-2A>G	NP_001361235.1:n.1351-2A>G
NM_001374307.2:c.1318-2A>G	NP_001361236.1:n.1318-2A>G
NM_001374308.2:c.1318-2A>G	NP_001361237.1:n.1318-2A>G
NM_001374309.2:c.1318-2A>G	NP_001361238.1:n.1318-2A>G
NM_001374310.2:c.1318-2A>G	NP_001361239.1:n.1318-2A>G
NM_001374311.2:c.1318-2A>G	NP_001361240.1:n.1318-2A>G
NM_001374312.2:c.1318-2A>G	NP_001361241.1:n.1318-2A>G
NM_001374313.2:c.1360-2A>G	NP_001361242.1:n.1360-2A>G
NM_001374314.1:c.1360-2A>G	NP_001361243.1:n.1360-2A>G
NM_001374315.2:c.1252-2A>G	NP_001361244.1:n.1252-2A>G
NM_003165.6:c.1360-2A>G MANE Plus Clinical	NP_003156.1:n.1360-2A>G