Canonical Allele Identifier: CA361479602
Community Standard Title: NM_198282.4(STING1):c.851G>C (p.Arg284Thr)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139477424C>G , CM000667.2:g.139477424C>G GRCh38
NC_000005.9:g.138857009C>G , CM000667.1:g.138857009C>G GRCh37
NC_000005.8:g.138837193C>G NCBI36
NG_034249.1:g.10367G>C

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.851G>C MANE Select NP_938023.1:p.Arg284Thr
ENST00000330794.9:c.851G>C MANE Select ENSP00000331288.4:p.Arg284Thr
NM_001301738.1:c.759+846G>C NP_001288667.1:n.759+846G>C
NM_001301738.2:c.759+846G>C NP_001288667.1:n.759+846G>C
NM_001367258.1:c.494G>C NP_001354187.1:p.Arg165Thr
NM_198282.3:c.851G>C NP_938023.1:p.Arg284Thr
ENST00000330794.8:c.851G>C ENSP00000331288.4:p.Arg284Thr
ENST00000502362.2:n.1626G>C
ENST00000503287.5:n.743G>C
ENST00000507297.5:n.2184G>C
ENST00000509573.5:n.558+846G>C
ENST00000510817.2:c.759+846G>C ENSP00000427455.2:n.759+846G>C
ENST00000511886.6:n.1957G>C
ENST00000512606.5:n.684+846G>C
ENST00000512606.6:n.1087G>C
ENST00000514119.6:n.978+846G>C
ENST00000650883.1:c.*268G>C ENSP00000499142.1:n.*268G>C
ENST00000651565.1:c.494G>C ENSP00000498768.1:p.Arg165Thr
ENST00000651699.1:c.851G>C ENSP00000499166.1:p.Arg284Thr
ENST00000652110.1:c.759+846G>C ENSP00000498513.1:n.759+846G>C
ENST00000652271.1:c.851G>C ENSP00000498596.1:p.Arg284Thr
ENST00000652293.1:n.1659G>C
ENST00000652543.1:c.402+846G>C ENSP00000498683.1:n.402+846G>C
ENST00000652640.1:n.1333+846G>C
XM_005268445.2:c.759+846G>C XP_005268502.1:n.759+846G>C
XM_005268445.4:c.759+846G>C XP_005268502.1:n.759+846G>C
XM_011537640.1:c.494G>C XP_011535942.1:p.Arg165Thr
XM_011537640.2:c.494G>C XP_011535942.1:p.Arg165Thr