Canonical Allele Identifier: CA3435299
Community Standard Title: NM_198282.4(STING1):c.841C>T (p.Arg281Trp)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139477434G>A , CM000667.2:g.139477434G>A GRCh38
NC_000005.9:g.138857019G>A , CM000667.1:g.138857019G>A GRCh37
NC_000005.8:g.138837203G>A NCBI36
NG_034249.1:g.10357C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.841C>T MANE Select NP_938023.1:p.Arg281Trp
ENST00000330794.9:c.841C>T MANE Select ENSP00000331288.4:p.Arg281Trp
NM_001301738.1:c.759+836C>T NP_001288667.1:n.759+836C>T
NM_001301738.2:c.759+836C>T NP_001288667.1:n.759+836C>T
NM_001367258.1:c.484C>T NP_001354187.1:p.Arg162Trp
NM_198282.3:c.841C>T NP_938023.1:p.Arg281Trp
ENST00000330794.8:c.841C>T ENSP00000331288.4:p.Arg281Trp
ENST00000502362.2:n.1616C>T
ENST00000503287.5:n.733C>T
ENST00000507297.5:n.2174C>T
ENST00000509573.5:n.558+836C>T
ENST00000510817.2:c.759+836C>T ENSP00000427455.2:n.759+836C>T
ENST00000511886.6:n.1947C>T
ENST00000512606.5:n.684+836C>T
ENST00000512606.6:n.1077C>T
ENST00000514119.6:n.978+836C>T
ENST00000650883.1:c.*258C>T ENSP00000499142.1:n.*258C>T
ENST00000651565.1:c.484C>T ENSP00000498768.1:p.Arg162Trp
ENST00000651699.1:c.841C>T ENSP00000499166.1:p.Arg281Trp
ENST00000652110.1:c.759+836C>T ENSP00000498513.1:n.759+836C>T
ENST00000652271.1:c.841C>T ENSP00000498596.1:p.Arg281Trp
ENST00000652293.1:n.1649C>T
ENST00000652543.1:c.402+836C>T ENSP00000498683.1:n.402+836C>T
ENST00000652640.1:n.1333+836C>T
XM_005268445.2:c.759+836C>T XP_005268502.1:n.759+836C>T
XM_005268445.4:c.759+836C>T XP_005268502.1:n.759+836C>T
XM_011537640.1:c.484C>T XP_011535942.1:p.Arg162Trp
XM_011537640.2:c.484C>T XP_011535942.1:p.Arg162Trp