Canonical Allele Identifier: CA1129262478

Gene: STXBP1

Linked Data

• dbSNP Id: rs1842037340
• gnomAD v3: 9-127682402-T-C
• gnomAD v4: 9-127682402-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127682402T>C , CM000671.2:g.127682402T>C	GRCh38
NC_000009.11:g.130444681T>C , CM000671.1:g.130444681T>C	GRCh37
NC_000009.10:g.129484502T>C	NCBI36
NG_016623.1:g.75196T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704680.1:c.1506-4T>C	ENSP00000515991.1:n.1506-4T>C
ENST00000704681.1:c.1493-4T>C	ENSP00000515992.1:n.1493-4T>C
ENST00000373299.5:c.1548-4T>C MANE Select	ENSP00000362396.2:n.1548-4T>C
ENST00000373302.8:c.1548-4T>C MANE Plus Clinical	ENSP00000362399.3:n.1548-4T>C
ENST00000626539.3:c.1506-4T>C	ENSP00000487211.2:n.1506-4T>C
ENST00000635950.2:c.1548-4T>C	ENSP00000490903.1:n.1548-4T>C
ENST00000636509.2:c.*503-4T>C	ENSP00000490810.1:n.*503-4T>C
ENST00000636962.2:c.1548-4T>C	ENSP00000489762.1:n.1548-4T>C
ENST00000637060.2:c.*1190-4T>C	ENSP00000490674.2:n.*1190-4T>C
ENST00000637173.2:c.1506-4T>C	ENSP00000490519.1:n.1506-4T>C
ENST00000637464.2:c.*2412-4T>C	ENSP00000489655.2:n.*2412-4T>C
ENST00000637521.2:c.1506-4T>C	ENSP00000489791.1:n.1506-4T>C
ENST00000637953.1:c.1548-4T>C	ENSP00000490613.1:n.1548-4T>C
ENST00000647107.1:c.1490-4T>C
ENST00000650920.1:c.1506-4T>C	ENSP00000498834.1:n.1506-4T>C
ENST00000373299.4:c.1548-4T>C	ENSP00000362396.1:n.1548-4T>C
ENST00000373302.7:c.1548-4T>C	ENSP00000362399.3:n.1548-4T>C
ENST00000494254.3:c.96-4T>C	ENSP00000485397.1:n.96-4T>C
ENST00000626416.2:n.1384-4T>C
ENST00000628638.1:n.140-4T>C
NM_001032221.3:c.1548-4T>C	NP_001027392.1:n.1548-4T>C
NM_003165.3:c.1548-4T>C	NP_003156.1:n.1548-4T>C
NM_001032221.6:c.1548-4T>C MANE Select	NP_001027392.1:n.1548-4T>C
NM_001374306.2:c.1539-4T>C	NP_001361235.1:n.1539-4T>C
NM_001374307.2:c.1506-4T>C	NP_001361236.1:n.1506-4T>C
NM_001374308.2:c.1506-4T>C	NP_001361237.1:n.1506-4T>C
NM_001374309.2:c.1506-4T>C	NP_001361238.1:n.1506-4T>C
NM_001374310.2:c.1506-4T>C	NP_001361239.1:n.1506-4T>C
NM_001374311.2:c.1506-4T>C	NP_001361240.1:n.1506-4T>C
NM_001374312.2:c.1506-4T>C	NP_001361241.1:n.1506-4T>C
NM_001374313.2:c.1548-4T>C	NP_001361242.1:n.1548-4T>C
NM_001374314.1:c.1548-4T>C	NP_001361243.1:n.1548-4T>C
NM_001374315.2:c.1440-4T>C	NP_001361244.1:n.1440-4T>C
NM_003165.6:c.1548-4T>C MANE Plus Clinical	NP_003156.1:n.1548-4T>C