Canonical Allele Identifier: CA409444966

Gene: STX16 STX16-NPEPL1

Linked Data

• MyVariant Identifiers: chr20:g.57244396G>C (hg19) ; chr20:g.58669340G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58669340G>C , CM000682.2:g.58669340G>C	GRCh38
NC_000020.10:g.57244396G>C , CM000682.1:g.57244396G>C	GRCh37
NC_000020.9:g.56677802G>C	NCBI36
NG_011831.2:g.23069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312283.12:c.284G>C (STX16)	ENSP00000312086.8:p.Arg95Pro
ENST00000355957.9:c.392G>C (STX16)	ENSP00000348229.5:p.Arg131Pro
ENST00000358029.8:c.431G>C (STX16)	ENSP00000350723.4:p.Arg144Pro
ENST00000359617.8:c.284G>C (STX16)	ENSP00000352634.4:p.Arg95Pro
ENST00000361770.9:c.391G>C (STX16)	ENSP00000355408.6:p.Gly131Arg
ENST00000361830.7:c.284G>C (STX16)	ENSP00000354445.4:p.Arg95Pro
ENST00000371132.8:c.380G>C (STX16)	ENSP00000360173.4:p.Arg127Pro
ENST00000371141.8:c.443G>C (STX16) MANE Select	ENSP00000360183.4:p.Arg148Pro
ENST00000412911.5:c.284G>C (STX16)	ENSP00000416852.1:p.Arg95Pro
ENST00000438253.1:c.269G>C (STX16)	ENSP00000401801.1:p.Arg90Pro
ENST00000458280.5:c.284G>C (STX16)	ENSP00000388348.1:p.Arg95Pro
ENST00000460655.5:c.*105-1172G>C (STX16)	ENSP00000435118.1:n.*105-1172G>C
ENST00000464640.5:c.392G>C (STX16)	ENSP00000432414.1:p.Arg131Pro
ENST00000467096.5:c.343-1172G>C (STX16)	ENSP00000434369.1:n.343-1172G>C
ENST00000468590.1:n.342G>C (STX16)
ENST00000476384.5:c.235-1172G>C (STX16)	ENSP00000437209.1:n.235-1172G>C
ENST00000483434.5:c.235-1172G>C (STX16)	ENSP00000432823.1:n.235-1172G>C
ENST00000490700.5:n.135-1172G>C (STX16)
ENST00000493301.5:c.375-1172G>C (STX16)
ENST00000496003.5:n.643-1172G>C (STX16)
ENST00000496117.5:n.371-1172G>C (STX16)
ENST00000530122.1:c.443G>C (STX16-NPEPL1)	ENSP00000457522.1:p.Arg148Pro
NM_001001433.2:c.443G>C (STX16)	NP_001001433.1:p.Arg148Pro
NM_001134772.2:c.431G>C (STX16)	NP_001128244.1:p.Arg144Pro
NM_001134773.2:c.392G>C (STX16)	NP_001128245.1:p.Arg131Pro
NM_001204868.1:c.284G>C (STX16)	NP_001191797.1:p.Arg95Pro
NM_003763.5:c.380G>C (STX16)	NP_003754.2:p.Arg127Pro
NR_037941.1:n.1097-1172G>C (STX16)
NR_037942.1:n.490-1172G>C (STX16)
NR_037943.1:n.447-1172G>C (STX16)
NR_037945.1:n.1197G>C (STX16-NPEPL1)
NM_001001433.3:c.443G>C (STX16) MANE Select	NP_001001433.1:p.Arg148Pro
NM_001134772.3:c.431G>C (STX16)	NP_001128244.1:p.Arg144Pro
NM_001134773.3:c.392G>C (STX16)	NP_001128245.1:p.Arg131Pro
NM_001204868.2:c.284G>C (STX16)	NP_001191797.1:p.Arg95Pro
NM_003763.6:c.380G>C (STX16)	NP_003754.2:p.Arg127Pro
NR_037941.2:n.1067-1172G>C (STX16)
NR_037942.2:n.460-1172G>C (STX16)
NR_037943.2:n.417-1172G>C (STX16)