Canonical Allele Identifier: CA14018062

Gene: STXBP6

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.25034593A>G , CM000676.2:g.25034593A>G	GRCh38
NC_000014.8:g.25503799A>G , CM000676.1:g.25503799A>G	GRCh37
NC_000014.7:g.24573639A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323944.10:c.-33+15285T>C MANE Select	ENSP00000324302.5:n.-33+15285T>C
ENST00000323944.9:c.-33+15285T>C	ENSP00000324302.5:n.-33+15285T>C
ENST00000396700.5:c.-149+15285T>C	ENSP00000379928.1:n.-149+15285T>C
ENST00000419632.6:c.-33+14614T>C	ENSP00000397212.2:n.-33+14614T>C
ENST00000546511.5:c.-33+14367T>C	ENSP00000449536.1:n.-33+14367T>C
ENST00000548182.1:c.-120+15285T>C	ENSP00000447268.1:n.-120+15285T>C
NM_001304476.1:c.-149+15285T>C	NP_001291405.1:n.-149+15285T>C
NM_001304477.1:c.-33+14367T>C	NP_001291406.1:n.-33+14367T>C
NM_014178.7:c.-33+14614T>C	NP_054897.4:n.-33+14614T>C
XM_011536669.1:c.-87+15285T>C	XP_011534971.1:n.-87+15285T>C
NM_001351940.1:c.-84+15285T>C	NP_001338869.1:n.-84+15285T>C
NM_001351941.1:c.-33+14614T>C	NP_001338870.1:n.-33+14614T>C
NM_001351942.1:c.-109+15285T>C	NP_001338871.1:n.-109+15285T>C
NM_001351943.1:c.-109+14614T>C	NP_001338872.1:n.-109+14614T>C
XM_011536669.2:c.-87+15285T>C	XP_011534971.1:n.-87+15285T>C
XM_017021231.2:c.-33+15285T>C	XP_016876720.1:n.-33+15285T>C
XM_017021241.1:c.-33+10327T>C	XP_016876730.1:n.-33+10327T>C
NM_001304476.2:c.-149+15285T>C	NP_001291405.1:n.-149+15285T>C
NM_001304477.2:c.-33+14367T>C	NP_001291406.1:n.-33+14367T>C
NM_001351940.2:c.-84+15285T>C	NP_001338869.1:n.-84+15285T>C
NM_001351941.2:c.-33+14614T>C	NP_001338870.1:n.-33+14614T>C
NM_001351942.2:c.-109+15285T>C	NP_001338871.1:n.-109+15285T>C
NM_001351943.2:c.-109+14614T>C	NP_001338872.1:n.-109+14614T>C
NM_014178.8:c.-33+14614T>C	NP_054897.4:n.-33+14614T>C
NM_001304476.3:c.-149+15285T>C	NP_001291405.1:n.-149+15285T>C
NM_001304477.3:c.-33+14367T>C	NP_001291406.1:n.-33+14367T>C
NM_001351940.3:c.-120+15285T>C	NP_001338869.2:n.-120+15285T>C
NM_001351941.3:c.-33+14614T>C	NP_001338870.1:n.-33+14614T>C
NM_001351942.3:c.-109+15285T>C	NP_001338871.1:n.-109+15285T>C
NM_001351943.3:c.-109+14614T>C	NP_001338872.1:n.-109+14614T>C
NM_001394410.1:c.-33+15285T>C MANE Select	NP_001381339.1:n.-33+15285T>C
NM_001394412.1:c.-154+14614T>C	NP_001381341.1:n.-154+14614T>C
NM_001394414.1:c.-117+14614T>C	NP_001381343.1:n.-117+14614T>C
NM_001394415.1:c.-227+15285T>C	NP_001381344.1:n.-227+15285T>C
NM_001394418.1:c.-87+15285T>C	NP_001381347.1:n.-87+15285T>C
NM_001394420.1:c.-33+15285T>C	NP_001381349.1:n.-33+15285T>C
NM_014178.9:c.-33+14614T>C	NP_054897.4:n.-33+14614T>C