Canonical Allele Identifier: CA9925170

Gene: STX16 STX16-NPEPL1

Linked Data

• ClinVar Variation Id: 339043
• ClinVar RCV Id: RCV000268540 ; RCV000971975
• dbSNP Id: rs142560013
• ExAC: 20:57227168 C / A
• gnomAD v2: 20-57227168-C-A
• gnomAD v3: 20-58652112-C-A
• gnomAD v4: 20-58652112-C-A
• MyVariant Identifiers: chr20:g.57227168C>A (hg19) ; chr20:g.58652112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58652112C>A , CM000682.2:g.58652112C>A	GRCh38
NC_000020.10:g.57227168C>A , CM000682.1:g.57227168C>A	GRCh37
NC_000020.9:g.56660574C>A	NCBI36
NG_011831.2:g.5841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312283.12:c.-16+25C>A (STX16)	ENSP00000312086.8:n.-16+25C>A
ENST00000355957.9:c.81+25C>A (STX16)	ENSP00000348229.5:n.81+25C>A
ENST00000358029.8:c.106C>A (STX16)	ENSP00000350723.4:p.Pro36Thr
ENST00000359617.8:c.-54C>A (STX16)	ENSP00000352634.4:n.-54C>A
ENST00000361770.9:c.81+25C>A (STX16)	ENSP00000355408.6:n.81+25C>A
ENST00000361830.7:c.-45C>A (STX16)	ENSP00000354445.4:n.-45C>A
ENST00000371132.8:c.81+25C>A (STX16)	ENSP00000360173.4:n.81+25C>A
ENST00000371141.8:c.106C>A (STX16) MANE Select	ENSP00000360183.4:p.Pro36Thr
ENST00000412911.5:c.-28+25C>A (STX16)	ENSP00000416852.1:n.-28+25C>A
ENST00000458280.5:c.-28+25C>A (STX16)	ENSP00000388348.1:n.-28+25C>A
ENST00000460655.5:c.-28+25C>A (STX16)	ENSP00000435118.1:n.-28+25C>A
ENST00000464640.5:c.81+25C>A (STX16)	ENSP00000432414.1:n.81+25C>A
ENST00000467096.5:c.81+25C>A (STX16)	ENSP00000434369.1:n.81+25C>A
ENST00000468590.1:n.16C>A (STX16)
ENST00000476384.5:c.-134+25C>A (STX16)	ENSP00000437209.1:n.-134+25C>A
ENST00000483434.5:c.-16+25C>A (STX16)	ENSP00000432823.1:n.-16+25C>A
ENST00000490700.5:n.134+25C>A (STX16)
ENST00000493301.5:c.87C>A (STX16)
ENST00000496003.5:n.367C>A (STX16)
ENST00000496117.5:n.109+25C>A (STX16)
ENST00000530122.1:c.106C>A (STX16-NPEPL1)	ENSP00000457522.1:p.Pro36Thr
NM_001001433.2:c.106C>A (STX16)	NP_001001433.1:p.Pro36Thr
NM_001134772.2:c.106C>A (STX16)	NP_001128244.1:p.Pro36Thr
NM_001134773.2:c.81+25C>A (STX16)	NP_001128245.1:n.81+25C>A
NM_001204868.1:c.-54C>A (STX16)	NP_001191797.1:n.-54C>A
NM_003763.5:c.81+25C>A (STX16)	NP_003754.2:n.81+25C>A
NR_037941.1:n.835+25C>A (STX16)
NR_037942.1:n.202C>A (STX16)
NR_037943.1:n.197+25C>A (STX16)
NR_037945.1:n.860C>A (STX16-NPEPL1)
NM_001001433.3:c.106C>A (STX16) MANE Select	NP_001001433.1:p.Pro36Thr
NM_001134772.3:c.106C>A (STX16)	NP_001128244.1:p.Pro36Thr
NM_001134773.3:c.81+25C>A (STX16)	NP_001128245.1:n.81+25C>A
NM_001204868.2:c.-54C>A (STX16)	NP_001191797.1:n.-54C>A
NM_003763.6:c.81+25C>A (STX16)	NP_003754.2:n.81+25C>A
NR_037941.2:n.805+25C>A (STX16)
NR_037942.2:n.172C>A (STX16)
NR_037943.2:n.167+25C>A (STX16)