Canonical Allele Identifier: CA3435331

Gene: STING1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139478271C>T , CM000667.2:g.139478271C>T	GRCh38
NC_000005.9:g.138857856C>T , CM000667.1:g.138857856C>T	GRCh37
NC_000005.8:g.138838040C>T	NCBI36
NG_034249.1:g.9520G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198282.4:c.758G>A MANE Select	NP_938023.1:p.Arg253Gln
ENST00000330794.9:c.758G>A MANE Select	ENSP00000331288.4:p.Arg253Gln
NM_001301738.1:c.758G>A	NP_001288667.1:p.Arg253Gln
NM_001301738.2:c.758G>A	NP_001288667.1:p.Arg253Gln
NM_001367258.1:c.401G>A	NP_001354187.1:p.Arg134Gln
NM_198282.3:c.758G>A	NP_938023.1:p.Arg253Gln
ENST00000330794.8:c.758G>A	ENSP00000331288.4:p.Arg253Gln
ENST00000502362.2:n.1533G>A
ENST00000502825.1:n.536G>A
ENST00000503287.5:n.650G>A
ENST00000507297.5:n.2091G>A
ENST00000509573.5:n.557G>A
ENST00000510817.1:c.758G>A	ENSP00000427455.1:p.Arg253Gln
ENST00000510817.2:c.758G>A	ENSP00000427455.2:p.Arg253Gln
ENST00000511886.5:n.764G>A
ENST00000511886.6:n.1700G>A
ENST00000512606.5:n.683G>A
ENST00000512606.6:n.994G>A
ENST00000514119.6:n.977G>A
ENST00000650883.1:c.*175G>A	ENSP00000499142.1:n.*175G>A
ENST00000651565.1:c.401G>A	ENSP00000498768.1:p.Arg134Gln
ENST00000651699.1:c.758G>A	ENSP00000499166.1:p.Arg253Gln
ENST00000652110.1:c.758G>A	ENSP00000498513.1:p.Arg253Gln
ENST00000652271.1:c.758G>A	ENSP00000498596.1:p.Arg253Gln
ENST00000652293.1:n.1566G>A
ENST00000652543.1:c.401G>A	ENSP00000498683.1:p.Arg134Gln
ENST00000652640.1:n.1332G>A
XM_005268445.2:c.758G>A	XP_005268502.1:p.Arg253Gln
XM_005268445.4:c.758G>A	XP_005268502.1:p.Arg253Gln
XM_011537639.1:c.758G>A	XP_011535941.1:p.Arg253Gln
XM_011537639.3:c.758G>A	XP_011535941.1:p.Arg253Gln
XM_011537640.1:c.401G>A	XP_011535942.1:p.Arg134Gln
XM_011537640.2:c.401G>A	XP_011535942.1:p.Arg134Gln