Canonical Allele Identifier: CA361480326

Gene: STING1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139478490C>T , CM000667.2:g.139478490C>T	GRCh38
NC_000005.9:g.138858075C>T , CM000667.1:g.138858075C>T	GRCh37
NC_000005.8:g.138838259C>T	NCBI36
NG_034249.1:g.9301G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198282.4:c.539G>A MANE Select	NP_938023.1:p.Arg180Gln
ENST00000330794.9:c.539G>A MANE Select	ENSP00000331288.4:p.Arg180Gln
NM_001301738.1:c.539G>A	NP_001288667.1:p.Arg180Gln
NM_001301738.2:c.539G>A	NP_001288667.1:p.Arg180Gln
NM_001367258.1:c.182G>A	NP_001354187.1:p.Arg61Gln
NM_198282.3:c.539G>A	NP_938023.1:p.Arg180Gln
ENST00000330794.8:c.539G>A	ENSP00000331288.4:p.Arg180Gln
ENST00000502362.2:n.1314G>A
ENST00000502825.1:n.317G>A
ENST00000503287.5:n.431G>A
ENST00000507297.5:n.1872G>A
ENST00000509573.5:n.338G>A
ENST00000510817.1:c.539G>A	ENSP00000427455.1:p.Arg180Gln
ENST00000510817.2:c.539G>A	ENSP00000427455.2:p.Arg180Gln
ENST00000511850.1:n.862G>A
ENST00000511886.5:n.545G>A
ENST00000511886.6:n.1481G>A
ENST00000512606.5:n.464G>A
ENST00000512606.6:n.775G>A
ENST00000514119.5:n.976G>A
ENST00000514119.6:n.758G>A
ENST00000515507.5:n.585G>A
ENST00000650883.1:c.235G>A	ENSP00000499142.1:p.Glu79Lys
ENST00000651565.1:c.182G>A	ENSP00000498768.1:p.Arg61Gln
ENST00000651699.1:c.539G>A	ENSP00000499166.1:p.Arg180Gln
ENST00000652110.1:c.539G>A	ENSP00000498513.1:p.Arg180Gln
ENST00000652271.1:c.539G>A	ENSP00000498596.1:p.Arg180Gln
ENST00000652293.1:n.1347G>A
ENST00000652543.1:c.182G>A	ENSP00000498683.1:p.Arg61Gln
ENST00000652640.1:n.1113G>A
XM_005268445.2:c.539G>A	XP_005268502.1:p.Arg180Gln
XM_005268445.4:c.539G>A	XP_005268502.1:p.Arg180Gln
XM_011537639.1:c.539G>A	XP_011535941.1:p.Arg180Gln
XM_011537639.3:c.539G>A	XP_011535941.1:p.Arg180Gln
XM_011537640.1:c.182G>A	XP_011535942.1:p.Arg61Gln
XM_011537640.2:c.182G>A	XP_011535942.1:p.Arg61Gln