Canonical Allele Identifier: CA1931452971
Community Standard Title: NM_078470.6(COX15):c.1200G= (p.Trp400=)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99714620C= , CM000672.2:g.99714620C= GRCh38
NC_000010.10:g.101474377C= , CM000672.1:g.101474377C= GRCh37
NC_000010.9:g.101464367C= NCBI36
NG_008986.1:g.23047G= , LRG_406:g.23047G=

Transcript Alleles

HGVS Amino-acid Change
NM_078470.6:c.1200G= (COX15) MANE Select NP_510870.1:p.Trp400=
ENST00000016171.6:c.1200G= (COX15) MANE Select ENSP00000016171.6:p.Trp400=
NM_001320974.1:c.1101+1728G= (COX15) NP_001307903.1:n.1101+1728G=
NM_001320974.2:c.1101+1728G= (COX15) NP_001307903.1:n.1101+1728G=
NM_001320975.1:c.*148G= (COX15) NP_001307904.1:n.*148G=
NM_001320975.2:c.*148G= (COX15) NP_001307904.1:n.*148G=
NM_001320976.1:c.663G= (COX15) NP_001307905.1:p.Trp221=
NM_001320976.2:c.663G= (COX15) NP_001307905.1:p.Trp221=
NM_001372024.1:c.1102-656G= (COX15) NP_001358953.1:n.1102-656G=
NM_001372025.1:c.1218G= (COX15) NP_001358954.1:p.Trp406=
NM_001372026.1:c.1173G= (COX15) NP_001358955.1:p.Trp391=
NM_001372027.1:c.*71G= (COX15) NP_001358956.1:n.*71G=
NM_001372028.1:c.*50-656G= (COX15) NP_001358957.1:n.*50-656G=
NM_004376.5:c.1102-1141G= , LRG_406t2:c.1102-1141G= (COX15) NP_004367.2:n.1102-1141G=
NM_004376.6:c.1102-1141G= (COX15) NP_004367.2:n.1102-1141G=
NM_004376.7:c.1102-1141G= (COX15) NP_004367.2:n.1102-1141G=
NM_078470.4:c.1200G= , LRG_406t1:c.1200G= (COX15) NP_510870.1:p.Trp400=
NM_078470.5:c.1200G= (COX15) NP_510870.1:p.Trp400=
NR_164009.1:n.1040G= (COX15)
ENST00000016171.5:c.1200G= (COX15) ENSP00000016171.5:p.Trp400=
ENST00000370483.9:c.1102-1141G= (COX15) ENSP00000359514.5:n.1102-1141G=
ENST00000493385.5:n.117-8298C= (CUTC)
ENST00000649102.1:c.*460+1728G= ENSP00000497114.1:n.*460+1728G=
XM_005269539.3:c.1101+1728G= (COX15) XP_005269596.1:n.1101+1728G=
XM_006717633.2:c.*148G= (COX15) XP_006717696.1:n.*148G=
XM_006717634.2:c.*49+1728G= (COX15) XP_006717697.1:n.*49+1728G=
XM_006717634.3:c.*49+1728G= (COX15) XP_006717697.1:n.*49+1728G=
XM_011539298.1:c.*50-1141G= (COX15) XP_011537600.1:n.*50-1141G=
XM_011539298.2:c.*50-1141G= (COX15) XP_011537600.1:n.*50-1141G=