Canonical Allele Identifier: CA5248634

Gene: STXBP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127684454G>A , CM000671.2:g.127684454G>A	GRCh38
NC_000009.11:g.130446733G>A , CM000671.1:g.130446733G>A	GRCh37
NC_000009.10:g.129486554G>A	NCBI36
NG_016623.1:g.77248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1660+1894G>A	ENSP00000515991.1:n.1660+1894G>A
ENST00000704681.1:c.1734G>A	ENSP00000515992.1:n.1734G>A
ENST00000373299.5:c.1702+1894G>A MANE Select	ENSP00000362396.2:n.1702+1894G>A
ENST00000373302.8:c.1789G>A MANE Plus Clinical	ENSP00000362399.3:p.Asp597Asn
ENST00000626539.3:c.1660+1894G>A	ENSP00000487211.2:n.1660+1894G>A
ENST00000635950.2:c.1702+1894G>A	ENSP00000490903.1:n.1702+1894G>A
ENST00000636509.2:c.*657+1894G>A	ENSP00000490810.1:n.*657+1894G>A
ENST00000636962.2:c.1702+1894G>A	ENSP00000489762.1:n.1702+1894G>A
ENST00000637060.2:c.*1344+1894G>A	ENSP00000490674.2:n.*1344+1894G>A
ENST00000637173.2:c.1660+1894G>A	ENSP00000490519.1:n.1660+1894G>A
ENST00000637464.2:c.*2566+1894G>A	ENSP00000489655.2:n.*2566+1894G>A
ENST00000637521.2:c.1747G>A	ENSP00000489791.1:p.Asp583Asn
ENST00000637953.1:c.1702+1894G>A	ENSP00000490613.1:n.1702+1894G>A
ENST00000647107.1:c.1784G>A
ENST00000650920.1:c.1747G>A	ENSP00000498834.1:p.Asp583Asn
ENST00000373299.4:c.1702+1894G>A	ENSP00000362396.1:n.1702+1894G>A
ENST00000373302.7:c.1789G>A	ENSP00000362399.3:p.Asp597Asn
ENST00000494254.3:c.337G>A	ENSP00000485397.1:p.Asp113Asn
ENST00000626416.2:n.1538+1894G>A
ENST00000628638.1:n.294+1894G>A
NM_001032221.3:c.1702+1894G>A	NP_001027392.1:n.1702+1894G>A
NM_003165.3:c.1789G>A	NP_003156.1:p.Asp597Asn
NM_001032221.6:c.1702+1894G>A MANE Select	NP_001027392.1:n.1702+1894G>A
NM_001374306.2:c.1693+1894G>A	NP_001361235.1:n.1693+1894G>A
NM_001374307.2:c.1747G>A	NP_001361236.1:p.Asp583Asn
NM_001374308.2:c.1747G>A	NP_001361237.1:p.Asp583Asn
NM_001374309.2:c.1660+1894G>A	NP_001361238.1:n.1660+1894G>A
NM_001374310.2:c.1660+1894G>A	NP_001361239.1:n.1660+1894G>A
NM_001374311.2:c.1660+1894G>A	NP_001361240.1:n.1660+1894G>A
NM_001374312.2:c.1660+1894G>A	NP_001361241.1:n.1660+1894G>A
NM_001374313.2:c.1702+1894G>A	NP_001361242.1:n.1702+1894G>A
NM_001374314.1:c.1702+1894G>A	NP_001361243.1:n.1702+1894G>A
NM_001374315.2:c.1681G>A	NP_001361244.1:p.Asp561Asn
NM_003165.6:c.1789G>A MANE Plus Clinical	NP_003156.1:p.Asp597Asn