Canonical Allele Identifier: CA6800008
Gene: OAS1 HGNC NCBI
COSMIC:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112919432G>C , CM000674.2:g.112919432G>C GRCh38
NC_000012.11:g.113357237G>C , CM000674.1:g.113357237G>C GRCh37
NC_000012.10:g.111841620G>C NCBI36
NG_011530.1:g.17499G>C
NG_011530.2:g.17499G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000202917.10:c.1082G>C MANE Select ENSP00000202917.5:p.Arg361Thr
ENST00000445409.7:c.1039-55G>C ENSP00000388001.2:n.1039-55G>C
ENST00000452357.7:c.*1675G>C ENSP00000415721.2:n.*1675G>C
ENST00000540589.3:c.1039-55G>C ENSP00000474083.2:n.1039-55G>C
ENST00000549820.2:n.1957G>C
ENST00000550883.2:c.*2657G>C ENSP00000450286.2:n.*2657G>C
ENST00000551241.6:c.1038+1732G>C ENSP00000448790.1:n.1038+1732G>C
ENST00000552526.2:c.1082G>C ENSP00000475139.2:p.Arg361Thr
ENST00000553152.2:c.*719G>C ENSP00000449053.2:n.*719G>C
ENST00000679413.1:n.3300G>C
ENST00000679467.1:c.1097G>C ENSP00000506593.1:p.Arg366Thr
ENST00000679494.1:c.928G>C ENSP00000505090.1:p.Gly310Arg
ENST00000679767.1:c.*423G>C ENSP00000505476.1:n.*423G>C
ENST00000679971.1:c.565-55G>C ENSP00000505786.1:n.565-55G>C
ENST00000679987.1:c.1103G>C ENSP00000504970.1:p.Arg368Thr
ENST00000680189.1:c.1082G>C ENSP00000505572.1:p.Arg361Thr
ENST00000680455.1:c.608G>C ENSP00000505165.1:p.Arg203Thr
ENST00000680522.1:c.*591G>C ENSP00000506485.1:n.*591G>C
ENST00000680659.1:c.*70G>C ENSP00000504942.1:n.*70G>C
ENST00000680919.1:c.*376G>C ENSP00000506474.1:n.*376G>C
ENST00000680934.1:c.885-55G>C ENSP00000505028.1:n.885-55G>C
ENST00000681228.1:c.995G>C ENSP00000505703.1:p.Arg332Thr
ENST00000681436.1:n.7069G>C
ENST00000681505.1:c.*423G>C ENSP00000505794.1:n.*423G>C
ENST00000681700.1:c.1058G>C ENSP00000506580.1:p.Arg353Thr
ENST00000681934.1:c.1082G>C ENSP00000505482.1:p.Arg361Thr
ENST00000202917.9:c.1082G>C ENSP00000202917.5:p.Arg361Thr
ENST00000445409.6:c.1039-55G>C ENSP00000388001.2:n.1039-55G>C
ENST00000551241.5:c.1038+1732G>C ENSP00000448790.1:n.1038+1732G>C
ENST00000552526.1:c.44G>C ENSP00000475139.1:p.Arg15Thr
NM_001032409.1:c.1039-55G>C NP_001027581.1:n.1039-55G>C
NM_016816.2:c.1082G>C NP_058132.2:p.Arg361Thr
XM_006719434.1:c.*719G>C XP_006719497.1:n.*719G>C
XM_011538413.1:c.1015-55G>C XP_011536715.1:n.1015-55G>C
XM_011538414.1:c.1038+1732G>C XP_011536716.1:n.1038+1732G>C
XR_944557.1:n.1125G>C
NM_001032409.2:c.1039-55G>C NP_001027581.1:n.1039-55G>C
NM_001320151.1:c.1038+1732G>C NP_001307080.1:n.1038+1732G>C
NM_016816.3:c.1082G>C NP_058132.2:p.Arg361Thr
XM_006719434.2:c.*719G>C XP_006719497.1:n.*719G>C
XM_011538413.2:c.1015-55G>C XP_011536715.1:n.1015-55G>C
XM_017019361.2:c.1058G>C XP_016874850.1:p.Arg353Thr
XM_017019362.1:c.593G>C XP_016874851.1:p.Arg198Thr
NM_016816.4:c.1082G>C MANE Select NP_058132.2:p.Arg361Thr
NM_001032409.3:c.1039-55G>C NP_001027581.1:n.1039-55G>C
NM_001320151.2:c.1038+1732G>C NP_001307080.1:n.1038+1732G>C