Canonical Allele Identifier: CA378101273

Linked Data

dbSNP Id: rs2036508263

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99714627G>A , CM000672.2:g.99714627G>A GRCh38
NC_000010.10:g.101474384G>A , CM000672.1:g.101474384G>A GRCh37
NC_000010.9:g.101464374G>A NCBI36
NG_008986.1:g.23040C>T , LRG_406:g.23040C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000016171.6:c.1193C>T (COX15) MANE Select ENSP00000016171.6:p.Ala398Val
ENST00000649102.1:c.*460+1721C>T ENSP00000497114.1:n.*460+1721C>T
ENST00000016171.5:c.1193C>T (COX15) ENSP00000016171.5:p.Ala398Val
ENST00000370483.9:c.1102-1148C>T (COX15) ENSP00000359514.5:n.1102-1148C>T
ENST00000493385.5:n.117-8291G>A (CUTC)
NM_004376.5:c.1102-1148C>T , LRG_406t2:c.1102-1148C>T (COX15) NP_004367.2:n.1102-1148C>T
NM_078470.4:c.1193C>T , LRG_406t1:c.1193C>T (COX15) NP_510870.1:p.Ala398Val
XM_005269539.3:c.1101+1721C>T (COX15) XP_005269596.1:n.1101+1721C>T
XM_006717633.2:c.*141C>T (COX15) XP_006717696.1:n.*141C>T
XM_006717634.2:c.*49+1721C>T (COX15) XP_006717697.1:n.*49+1721C>T
XM_011539298.1:c.*50-1148C>T (COX15) XP_011537600.1:n.*50-1148C>T
NM_001320974.1:c.1101+1721C>T (COX15) NP_001307903.1:n.1101+1721C>T
NM_001320975.1:c.*141C>T (COX15) NP_001307904.1:n.*141C>T
NM_001320976.1:c.656C>T (COX15) NP_001307905.1:p.Ala219Val
NM_004376.6:c.1102-1148C>T (COX15) NP_004367.2:n.1102-1148C>T
NM_078470.5:c.1193C>T (COX15) NP_510870.1:p.Ala398Val
XM_006717634.3:c.*49+1721C>T (COX15) XP_006717697.1:n.*49+1721C>T
XM_011539298.2:c.*50-1148C>T (COX15) XP_011537600.1:n.*50-1148C>T
NM_001320974.2:c.1101+1721C>T (COX15) NP_001307903.1:n.1101+1721C>T
NM_001320975.2:c.*141C>T (COX15) NP_001307904.1:n.*141C>T
NM_001320976.2:c.656C>T (COX15) NP_001307905.1:p.Ala219Val
NM_001372024.1:c.1102-663C>T (COX15) NP_001358953.1:n.1102-663C>T
NM_001372025.1:c.1211C>T (COX15) NP_001358954.1:p.Ala404Val
NM_001372026.1:c.1166C>T (COX15) NP_001358955.1:p.Ala389Val
NM_001372027.1:c.*64C>T (COX15) NP_001358956.1:n.*64C>T
NM_001372028.1:c.*50-663C>T (COX15) NP_001358957.1:n.*50-663C>T
NM_004376.7:c.1102-1148C>T (COX15) NP_004367.2:n.1102-1148C>T
NM_078470.6:c.1193C>T (COX15) MANE Select NP_510870.1:p.Ala398Val
NR_164009.1:n.1033C>T (COX15)