Canonical Allele Identifier: CA10644196

Gene: STX16 STX16-NPEPL1

Linked Data

• ClinVar Variation Id: 339035
• ClinVar RCV Id: RCV000296561
• dbSNP Id: rs886056843
• MyVariant Identifiers: chr20:g.57226598T>G (hg19) ; chr20:g.58651542T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58651542T>G , CM000682.2:g.58651542T>G	GRCh38
NC_000020.10:g.57226598T>G , CM000682.1:g.57226598T>G	GRCh37
NC_000020.9:g.56660004T>G	NCBI36
NG_011831.2:g.5271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312283.12:c.-31+128T>G (STX16)	ENSP00000312086.8:n.-31+128T>G
ENST00000355957.9:c.-465T>G (STX16)	ENSP00000348229.5:n.-465T>G
ENST00000359617.8:c.-94+108T>G (STX16)	ENSP00000352634.4:n.-94+108T>G
ENST00000361830.7:c.-85+108T>G (STX16)	ENSP00000354445.4:n.-85+108T>G
ENST00000371141.8:c.-465T>G (STX16) MANE Select	ENSP00000360183.4:n.-465T>G
ENST00000412911.5:c.-43+108T>G (STX16)	ENSP00000416852.1:n.-43+108T>G
ENST00000458280.5:c.-43+128T>G (STX16)	ENSP00000388348.1:n.-43+128T>G
ENST00000460655.5:c.-43+11T>G (STX16)	ENSP00000435118.1:n.-43+11T>G
ENST00000476384.5:c.-149+108T>G (STX16)	ENSP00000437209.1:n.-149+108T>G
ENST00000483434.5:c.-31+108T>G (STX16)	ENSP00000432823.1:n.-31+108T>G
ENST00000490700.5:n.119+108T>G (STX16)
ENST00000496117.5:n.94+136T>G (STX16)
ENST00000530122.1:c.-465T>G (STX16-NPEPL1)	ENSP00000457522.1:n.-465T>G
NM_001001433.2:c.-465T>G (STX16)	NP_001001433.1:n.-465T>G
NM_001134772.2:c.-465T>G (STX16)	NP_001128244.1:n.-465T>G
NM_001134773.2:c.-465T>G (STX16)	NP_001128245.1:n.-465T>G
NM_001204868.1:c.-94+108T>G (STX16)	NP_001191797.1:n.-94+108T>G
NM_003763.5:c.-465T>G (STX16)	NP_003754.2:n.-465T>G
NR_037941.1:n.290T>G (STX16)
NR_037942.1:n.162+128T>G (STX16)
NR_037943.1:n.182+108T>G (STX16)
NR_037945.1:n.290T>G (STX16-NPEPL1)
NM_001001433.3:c.-465T>G (STX16) MANE Select	NP_001001433.1:n.-465T>G
NM_001134772.3:c.-465T>G (STX16)	NP_001128244.1:n.-465T>G
NM_001134773.3:c.-465T>G (STX16)	NP_001128245.1:n.-465T>G
NM_001204868.2:c.-94+108T>G (STX16)	NP_001191797.1:n.-94+108T>G
NM_003763.6:c.-465T>G (STX16)	NP_003754.2:n.-465T>G
NR_037941.2:n.260T>G (STX16)
NR_037942.2:n.132+128T>G (STX16)
NR_037943.2:n.152+108T>G (STX16)