Canonical Allele Identifier: CA361481798

Gene: STING1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139481577G>A , CM000667.2:g.139481577G>A	GRCh38
NC_000005.9:g.138861162G>A , CM000667.1:g.138861162G>A	GRCh37
NC_000005.8:g.138841346G>A	NCBI36
NG_034249.1:g.6214C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198282.4:c.128C>T MANE Select	NP_938023.1:p.Thr43Ile
ENST00000330794.9:c.128C>T MANE Select	ENSP00000331288.4:p.Thr43Ile
NM_001301738.1:c.128C>T	NP_001288667.1:p.Thr43Ile
NM_001301738.2:c.128C>T	NP_001288667.1:p.Thr43Ile
NM_001367258.1:c.-130-235C>T	NP_001354187.1:n.-130-235C>T
NM_198282.3:c.128C>T	NP_938023.1:p.Thr43Ile
ENST00000330794.8:c.128C>T	ENSP00000331288.4:p.Thr43Ile
ENST00000502362.1:n.229C>T
ENST00000502362.2:n.768C>T
ENST00000507297.5:n.370C>T
ENST00000510817.1:c.128C>T	ENSP00000427455.1:p.Thr43Ile
ENST00000510817.2:c.128C>T	ENSP00000427455.2:p.Thr43Ile
ENST00000511850.1:n.215C>T
ENST00000511886.5:n.234-235C>T
ENST00000511886.6:n.935C>T
ENST00000512606.5:n.53C>T
ENST00000512606.6:n.229C>T
ENST00000514119.5:n.430C>T
ENST00000514119.6:n.212C>T
ENST00000514348.1:n.547C>T
ENST00000515507.5:n.229C>T
ENST00000650883.1:c.-203-27C>T	ENSP00000499142.1:n.-203-27C>T
ENST00000651565.1:c.-130-235C>T	ENSP00000498768.1:n.-130-235C>T
ENST00000651699.1:c.128C>T	ENSP00000499166.1:p.Thr43Ile
ENST00000652110.1:c.128C>T	ENSP00000498513.1:p.Thr43Ile
ENST00000652271.1:c.128C>T	ENSP00000498596.1:p.Thr43Ile
ENST00000652543.1:c.-130-235C>T	ENSP00000498683.1:n.-130-235C>T
XM_005268445.2:c.128C>T	XP_005268502.1:p.Thr43Ile
XM_005268445.4:c.128C>T	XP_005268502.1:p.Thr43Ile
XM_011537639.1:c.128C>T	XP_011535941.1:p.Thr43Ile
XM_011537639.3:c.128C>T	XP_011535941.1:p.Thr43Ile
XM_011537640.1:c.-130-235C>T	XP_011535942.1:n.-130-235C>T
XM_011537640.2:c.-130-235C>T	XP_011535942.1:n.-130-235C>T