Canonical Allele Identifier: CA1931469199
Community Standard Title: NM_078470.6(COX15):c.649C= (p.Arg217=)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99724057G= , CM000672.2:g.99724057G= GRCh38
NC_000010.10:g.101483814G= , CM000672.1:g.101483814G= GRCh37
NC_000010.9:g.101473804G= NCBI36
NG_008986.1:g.13610C= , LRG_406:g.13610C=

Transcript Alleles

HGVS Amino-acid Change
NM_078470.6:c.649C= (COX15) MANE Select NP_510870.1:p.Arg217=
ENST00000016171.6:c.649C= (COX15) MANE Select ENSP00000016171.6:p.Arg217=
NM_001320974.1:c.649C= (COX15) NP_001307903.1:p.Arg217=
NM_001320974.2:c.649C= (COX15) NP_001307903.1:p.Arg217=
NM_001320975.1:c.649C= (COX15) NP_001307904.1:p.Arg217=
NM_001320975.2:c.649C= (COX15) NP_001307904.1:p.Arg217=
NM_001320976.1:c.112C= (COX15) NP_001307905.1:p.Arg38=
NM_001320976.2:c.112C= (COX15) NP_001307905.1:p.Arg38=
NM_001372024.1:c.649C= (COX15) NP_001358953.1:p.Arg217=
NM_001372025.1:c.649C= (COX15) NP_001358954.1:p.Arg217=
NM_001372026.1:c.649C= (COX15) NP_001358955.1:p.Arg217=
NM_001372027.1:c.649C= (COX15) NP_001358956.1:p.Arg217=
NM_001372028.1:c.649C= (COX15) NP_001358957.1:p.Arg217=
NM_004376.5:c.649C= , LRG_406t2:c.649C= (COX15) NP_004367.2:p.Arg217=
NM_004376.6:c.649C= (COX15) NP_004367.2:p.Arg217=
NM_004376.7:c.649C= (COX15) NP_004367.2:p.Arg217=
NM_078470.4:c.649C= , LRG_406t1:c.649C= (COX15) NP_510870.1:p.Arg217=
NM_078470.5:c.649C= (COX15) NP_510870.1:p.Arg217=
NR_164009.1:n.644C= (COX15)
ENST00000016171.5:c.649C= (COX15) ENSP00000016171.5:p.Arg217=
ENST00000370483.9:c.649C= (COX15) ENSP00000359514.5:p.Arg217=
ENST00000493385.5:n.309+947G= (CUTC)
ENST00000649102.1:c.*8C= ENSP00000497114.1:n.*8C=
XM_005269539.3:c.649C= (COX15) XP_005269596.1:p.Arg217=
XM_006717633.2:c.649C= (COX15) XP_006717696.1:p.Arg217=
XM_006717634.2:c.649C= (COX15) XP_006717697.1:p.Arg217=
XM_006717634.3:c.649C= (COX15) XP_006717697.1:p.Arg217=
XM_011539298.1:c.649C= (COX15) XP_011537600.1:p.Arg217=
XM_011539298.2:c.649C= (COX15) XP_011537600.1:p.Arg217=