Canonical Allele Identifier: CA5642027

Gene: COX15 CUTC

Linked Data

• ClinVar Variation Id: 298411
• ClinVar RCV Id: RCV000354834 ; RCV001582923
• dbSNP Id: rs149696723
• ExAC: 10:101473147 A / G
• gnomAD v2: 10-101473147-A-G
• gnomAD v3: 10-99713390-A-G
• gnomAD v4: 10-99713390-A-G
• MyVariant Identifiers: chr10:g.101473147A>G (hg19) ; chr10:g.99713390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713390A>G , CM000672.2:g.99713390A>G	GRCh38
NC_000010.10:g.101473147A>G , CM000672.1:g.101473147A>G	GRCh37
NC_000010.9:g.101463137A>G	NCBI36
NG_008986.1:g.24277T>C , LRG_406:g.24277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1197T>C (COX15) MANE Select	ENSP00000016171.6:n.*1197T>C
ENST00000649102.1:c.*460+2958T>C	ENSP00000497114.1:n.*460+2958T>C
ENST00000370483.9:c.*24T>C (COX15)	ENSP00000359514.5:n.*24T>C
ENST00000493385.5:n.117-9528A>G (CUTC)
NM_004376.5:c.*24T>C , LRG_406t2:c.*24T>C (COX15)	NP_004367.2:n.*24T>C
NM_078470.4:c.*1197T>C , LRG_406t1:c.*1197T>C (COX15)	NP_510870.1:n.*1197T>C
XM_005269539.3:c.1101+2958T>C (COX15)	XP_005269596.1:n.1101+2958T>C
XM_006717633.2:c.*1378T>C (COX15)	XP_006717696.1:n.*1378T>C
XM_006717634.2:c.*49+2958T>C (COX15)	XP_006717697.1:n.*49+2958T>C
NM_001320974.1:c.1101+2958T>C (COX15)	NP_001307903.1:n.1101+2958T>C
NM_001320975.1:c.*1378T>C (COX15)	NP_001307904.1:n.*1378T>C
NM_001320976.1:c.*1197T>C (COX15)	NP_001307905.1:n.*1197T>C
NM_004376.6:c.*24T>C (COX15)	NP_004367.2:n.*24T>C
NM_078470.5:c.*1197T>C (COX15)	NP_510870.1:n.*1197T>C
XM_006717634.3:c.*49+2958T>C (COX15)	XP_006717697.1:n.*49+2958T>C
XM_011539298.2:c.*139T>C (COX15)	XP_011537600.1:n.*139T>C
NM_001320974.2:c.1101+2958T>C (COX15)	NP_001307903.1:n.1101+2958T>C
NM_001320975.2:c.*1378T>C (COX15)	NP_001307904.1:n.*1378T>C
NM_001320976.2:c.*1197T>C (COX15)	NP_001307905.1:n.*1197T>C
NM_001372024.1:c.*416T>C (COX15)	NP_001358953.1:n.*416T>C
NM_001372025.1:c.*1197T>C (COX15)	NP_001358954.1:n.*1197T>C
NM_001372026.1:c.*1197T>C (COX15)	NP_001358955.1:n.*1197T>C
NM_001372027.1:c.*1301T>C (COX15)	NP_001358956.1:n.*1301T>C
NM_001372028.1:c.*624T>C (COX15)	NP_001358957.1:n.*624T>C
NM_004376.7:c.*24T>C (COX15)	NP_004367.2:n.*24T>C
NM_078470.6:c.*1197T>C (COX15) MANE Select	NP_510870.1:n.*1197T>C
NR_164009.1:n.2270T>C (COX15)