Canonical Allele Identifier: CA3435438
Community Standard Title: NM_198282.4(STING1):c.344C>T (p.Pro115Leu)
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139481226G>A , CM000667.2:g.139481226G>A GRCh38
NC_000005.9:g.138860811G>A , CM000667.1:g.138860811G>A GRCh37
NC_000005.8:g.138840995G>A NCBI36
NG_034249.1:g.6565C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198282.4:c.344C>T MANE Select NP_938023.1:p.Pro115Leu
ENST00000330794.9:c.344C>T MANE Select ENSP00000331288.4:p.Pro115Leu
NM_001301738.1:c.344C>T NP_001288667.1:p.Pro115Leu
NM_001301738.2:c.344C>T NP_001288667.1:p.Pro115Leu
NM_001367258.1:c.-14C>T NP_001354187.1:n.-14C>T
NM_198282.3:c.344C>T NP_938023.1:p.Pro115Leu
ENST00000330794.8:c.344C>T ENSP00000331288.4:p.Pro115Leu
ENST00000502362.2:n.1119C>T
ENST00000503287.5:n.236C>T
ENST00000503838.1:n.124C>T
ENST00000507297.5:n.721C>T
ENST00000509573.5:n.143C>T
ENST00000510817.1:c.344C>T ENSP00000427455.1:p.Pro115Leu
ENST00000510817.2:c.344C>T ENSP00000427455.2:p.Pro115Leu
ENST00000511850.1:n.566C>T
ENST00000511886.5:n.350C>T
ENST00000511886.6:n.1286C>T
ENST00000512606.5:n.269C>T
ENST00000512606.6:n.580C>T
ENST00000514119.5:n.781C>T
ENST00000514119.6:n.563C>T
ENST00000515507.5:n.445C>T
ENST00000650883.1:c.-14C>T ENSP00000499142.1:n.-14C>T
ENST00000651565.1:c.-14C>T ENSP00000498768.1:n.-14C>T
ENST00000651699.1:c.344C>T ENSP00000499166.1:p.Pro115Leu
ENST00000652110.1:c.344C>T ENSP00000498513.1:p.Pro115Leu
ENST00000652271.1:c.344C>T ENSP00000498596.1:p.Pro115Leu
ENST00000652543.1:c.-14C>T ENSP00000498683.1:n.-14C>T
XM_005268445.2:c.344C>T XP_005268502.1:p.Pro115Leu
XM_005268445.4:c.344C>T XP_005268502.1:p.Pro115Leu
XM_011537639.1:c.344C>T XP_011535941.1:p.Pro115Leu
XM_011537639.3:c.344C>T XP_011535941.1:p.Pro115Leu
XM_011537640.1:c.-14C>T XP_011535942.1:n.-14C>T
XM_011537640.2:c.-14C>T XP_011535942.1:n.-14C>T