Canonical Allele Identifier: CA288774

Gene: COX15 CUTC

Linked Data

• ClinVar Variation Id: 128836
• ClinVar RCV Id: RCV000116814 ; RCV000259999 ; RCV000676871
• dbSNP Id: rs2231687
• ExAC: 10:101473218 A / G
• gnomAD v2: 10-101473218-A-G
• gnomAD v3: 10-99713461-A-G
• gnomAD v4: 10-99713461-A-G
• MyVariant Identifiers: chr10:g.101473218A>G (hg19) ; chr10:g.99713461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713461A>G , CM000672.2:g.99713461A>G	GRCh38
NC_000010.10:g.101473218A>G , CM000672.1:g.101473218A>G	GRCh37
NC_000010.9:g.101463208A>G	NCBI36
NG_008986.1:g.24206T>C , LRG_406:g.24206T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000016171.6:c.*1126T>C (COX15) MANE Select	ENSP00000016171.6:n.*1126T>C
ENST00000649102.1:c.*460+2887T>C	ENSP00000497114.1:n.*460+2887T>C
ENST00000370483.9:c.1120T>C (COX15)	ENSP00000359514.5:p.Phe374Leu
ENST00000493385.5:n.117-9457A>G (CUTC)
NM_004376.5:c.1120T>C , LRG_406t2:c.1120T>C (COX15)	NP_004367.2:p.Phe374Leu
NM_078470.4:c.*1126T>C , LRG_406t1:c.*1126T>C (COX15)	NP_510870.1:n.*1126T>C
XM_005269539.3:c.1101+2887T>C (COX15)	XP_005269596.1:n.1101+2887T>C
XM_006717633.2:c.*1307T>C (COX15)	XP_006717696.1:n.*1307T>C
XM_006717634.2:c.*49+2887T>C (COX15)	XP_006717697.1:n.*49+2887T>C
XM_011539298.1:c.*68T>C (COX15)	XP_011537600.1:n.*68T>C
NM_001320974.1:c.1101+2887T>C (COX15)	NP_001307903.1:n.1101+2887T>C
NM_001320975.1:c.*1307T>C (COX15)	NP_001307904.1:n.*1307T>C
NM_001320976.1:c.*1126T>C (COX15)	NP_001307905.1:n.*1126T>C
NM_004376.6:c.1120T>C (COX15)	NP_004367.2:p.Phe374Leu
NM_078470.5:c.*1126T>C (COX15)	NP_510870.1:n.*1126T>C
XM_006717634.3:c.*49+2887T>C (COX15)	XP_006717697.1:n.*49+2887T>C
XM_011539298.2:c.*68T>C (COX15)	XP_011537600.1:n.*68T>C
NM_001320974.2:c.1101+2887T>C (COX15)	NP_001307903.1:n.1101+2887T>C
NM_001320975.2:c.*1307T>C (COX15)	NP_001307904.1:n.*1307T>C
NM_001320976.2:c.*1126T>C (COX15)	NP_001307905.1:n.*1126T>C
NM_001372024.1:c.*345T>C (COX15)	NP_001358953.1:n.*345T>C
NM_001372025.1:c.*1126T>C (COX15)	NP_001358954.1:n.*1126T>C
NM_001372026.1:c.*1126T>C (COX15)	NP_001358955.1:n.*1126T>C
NM_001372027.1:c.*1230T>C (COX15)	NP_001358956.1:n.*1230T>C
NM_001372028.1:c.*553T>C (COX15)	NP_001358957.1:n.*553T>C
NM_004376.7:c.1120T>C (COX15)	NP_004367.2:p.Phe374Leu
NM_078470.6:c.*1126T>C (COX15) MANE Select	NP_510870.1:n.*1126T>C
NR_164009.1:n.2199T>C (COX15)