Canonical Allele Identifier: CA378101276

Gene: COX15 CUTC

Linked Data

• MyVariant Identifiers: chr10:g.101474385C>G (hg19) ; chr10:g.99714628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99714628C>G , CM000672.2:g.99714628C>G	GRCh38
NC_000010.10:g.101474385C>G , CM000672.1:g.101474385C>G	GRCh37
NC_000010.9:g.101464375C>G	NCBI36
NG_008986.1:g.23039G>C , LRG_406:g.23039G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000016171.6:c.1192G>C (COX15) MANE Select	ENSP00000016171.6:p.Ala398Pro
ENST00000649102.1:c.*460+1720G>C	ENSP00000497114.1:n.*460+1720G>C
ENST00000016171.5:c.1192G>C (COX15)	ENSP00000016171.5:p.Ala398Pro
ENST00000370483.9:c.1102-1149G>C (COX15)	ENSP00000359514.5:n.1102-1149G>C
ENST00000493385.5:n.117-8290C>G (CUTC)
NM_004376.5:c.1102-1149G>C , LRG_406t2:c.1102-1149G>C (COX15)	NP_004367.2:n.1102-1149G>C
NM_078470.4:c.1192G>C , LRG_406t1:c.1192G>C (COX15)	NP_510870.1:p.Ala398Pro
XM_005269539.3:c.1101+1720G>C (COX15)	XP_005269596.1:n.1101+1720G>C
XM_006717633.2:c.*140G>C (COX15)	XP_006717696.1:n.*140G>C
XM_006717634.2:c.*49+1720G>C (COX15)	XP_006717697.1:n.*49+1720G>C
XM_011539298.1:c.*50-1149G>C (COX15)	XP_011537600.1:n.*50-1149G>C
NM_001320974.1:c.1101+1720G>C (COX15)	NP_001307903.1:n.1101+1720G>C
NM_001320975.1:c.*140G>C (COX15)	NP_001307904.1:n.*140G>C
NM_001320976.1:c.655G>C (COX15)	NP_001307905.1:p.Ala219Pro
NM_004376.6:c.1102-1149G>C (COX15)	NP_004367.2:n.1102-1149G>C
NM_078470.5:c.1192G>C (COX15)	NP_510870.1:p.Ala398Pro
XM_006717634.3:c.*49+1720G>C (COX15)	XP_006717697.1:n.*49+1720G>C
XM_011539298.2:c.*50-1149G>C (COX15)	XP_011537600.1:n.*50-1149G>C
NM_001320974.2:c.1101+1720G>C (COX15)	NP_001307903.1:n.1101+1720G>C
NM_001320975.2:c.*140G>C (COX15)	NP_001307904.1:n.*140G>C
NM_001320976.2:c.655G>C (COX15)	NP_001307905.1:p.Ala219Pro
NM_001372024.1:c.1102-664G>C (COX15)	NP_001358953.1:n.1102-664G>C
NM_001372025.1:c.1210G>C (COX15)	NP_001358954.1:p.Ala404Pro
NM_001372026.1:c.1165G>C (COX15)	NP_001358955.1:p.Ala389Pro
NM_001372027.1:c.*63G>C (COX15)	NP_001358956.1:n.*63G>C
NM_001372028.1:c.*50-664G>C (COX15)	NP_001358957.1:n.*50-664G>C
NM_004376.7:c.1102-1149G>C (COX15)	NP_004367.2:n.1102-1149G>C
NM_078470.6:c.1192G>C (COX15) MANE Select	NP_510870.1:p.Ala398Pro
NR_164009.1:n.1032G>C (COX15)