Canonical Allele Identifier: CA290485

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99714611A>G , CM000672.2:g.99714611A>G GRCh38
NC_000010.10:g.101474368A>G , CM000672.1:g.101474368A>G GRCh37
NC_000010.9:g.101464358A>G NCBI36
NG_008986.1:g.23056T>C , LRG_406:g.23056T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000016171.6:c.1209T>C (COX15) MANE Select ENSP00000016171.6:p.Asn403=
ENST00000649102.1:c.*460+1737T>C ENSP00000497114.1:n.*460+1737T>C
ENST00000016171.5:c.1209T>C (COX15) ENSP00000016171.5:p.Asn403=
ENST00000370483.9:c.1102-1132T>C (COX15) ENSP00000359514.5:n.1102-1132T>C
ENST00000493385.5:n.117-8307A>G (CUTC)
NM_004376.5:c.1102-1132T>C , LRG_406t2:c.1102-1132T>C (COX15) NP_004367.2:n.1102-1132T>C
NM_078470.4:c.1209T>C , LRG_406t1:c.1209T>C (COX15) NP_510870.1:p.Asn403=
XM_005269539.3:c.1101+1737T>C (COX15) XP_005269596.1:n.1101+1737T>C
XM_006717633.2:c.*157T>C (COX15) XP_006717696.1:n.*157T>C
XM_006717634.2:c.*49+1737T>C (COX15) XP_006717697.1:n.*49+1737T>C
XM_011539298.1:c.*50-1132T>C (COX15) XP_011537600.1:n.*50-1132T>C
NM_001320974.1:c.1101+1737T>C (COX15) NP_001307903.1:n.1101+1737T>C
NM_001320975.1:c.*157T>C (COX15) NP_001307904.1:n.*157T>C
NM_001320976.1:c.672T>C (COX15) NP_001307905.1:p.Asn224=
NM_004376.6:c.1102-1132T>C (COX15) NP_004367.2:n.1102-1132T>C
NM_078470.5:c.1209T>C (COX15) NP_510870.1:p.Asn403=
XM_006717634.3:c.*49+1737T>C (COX15) XP_006717697.1:n.*49+1737T>C
XM_011539298.2:c.*50-1132T>C (COX15) XP_011537600.1:n.*50-1132T>C
NM_001320974.2:c.1101+1737T>C (COX15) NP_001307903.1:n.1101+1737T>C
NM_001320975.2:c.*157T>C (COX15) NP_001307904.1:n.*157T>C
NM_001320976.2:c.672T>C (COX15) NP_001307905.1:p.Asn224=
NM_001372024.1:c.1102-647T>C (COX15) NP_001358953.1:n.1102-647T>C
NM_001372025.1:c.1227T>C (COX15) NP_001358954.1:p.Asn409=
NM_001372026.1:c.1182T>C (COX15) NP_001358955.1:p.Asn394=
NM_001372027.1:c.*80T>C (COX15) NP_001358956.1:n.*80T>C
NM_001372028.1:c.*50-647T>C (COX15) NP_001358957.1:n.*50-647T>C
NM_004376.7:c.1102-1132T>C (COX15) NP_004367.2:n.1102-1132T>C
NM_078470.6:c.1209T>C (COX15) MANE Select NP_510870.1:p.Asn403=
NR_164009.1:n.1049T>C (COX15)