Canonical Allele Identifier: CA378101165

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs1294072515
• gnomAD v2: 10-101473226-A-G
• gnomAD v4: 10-99713469-A-G
• MyVariant Identifiers: chr10:g.101473226A>G (hg19) ; chr10:g.99713469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713469A>G , CM000672.2:g.99713469A>G	GRCh38
NC_000010.10:g.101473226A>G , CM000672.1:g.101473226A>G	GRCh37
NC_000010.9:g.101463216A>G	NCBI36
NG_008986.1:g.24198T>C , LRG_406:g.24198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1118T>C (COX15) MANE Select	ENSP00000016171.6:n.*1118T>C
ENST00000649102.1:c.*460+2879T>C	ENSP00000497114.1:n.*460+2879T>C
ENST00000370483.9:c.1112T>C (COX15)	ENSP00000359514.5:p.Leu371Ser
ENST00000493385.5:n.117-9449A>G (CUTC)
NM_004376.5:c.1112T>C , LRG_406t2:c.1112T>C (COX15)	NP_004367.2:p.Leu371Ser
NM_078470.4:c.*1118T>C , LRG_406t1:c.*1118T>C (COX15)	NP_510870.1:n.*1118T>C
XM_005269539.3:c.1101+2879T>C (COX15)	XP_005269596.1:n.1101+2879T>C
XM_006717633.2:c.*1299T>C (COX15)	XP_006717696.1:n.*1299T>C
XM_006717634.2:c.*49+2879T>C (COX15)	XP_006717697.1:n.*49+2879T>C
XM_011539298.1:c.*60T>C (COX15)	XP_011537600.1:n.*60T>C
NM_001320974.1:c.1101+2879T>C (COX15)	NP_001307903.1:n.1101+2879T>C
NM_001320975.1:c.*1299T>C (COX15)	NP_001307904.1:n.*1299T>C
NM_001320976.1:c.*1118T>C (COX15)	NP_001307905.1:n.*1118T>C
NM_004376.6:c.1112T>C (COX15)	NP_004367.2:p.Leu371Ser
NM_078470.5:c.*1118T>C (COX15)	NP_510870.1:n.*1118T>C
XM_006717634.3:c.*49+2879T>C (COX15)	XP_006717697.1:n.*49+2879T>C
XM_011539298.2:c.*60T>C (COX15)	XP_011537600.1:n.*60T>C
NM_001320974.2:c.1101+2879T>C (COX15)	NP_001307903.1:n.1101+2879T>C
NM_001320975.2:c.*1299T>C (COX15)	NP_001307904.1:n.*1299T>C
NM_001320976.2:c.*1118T>C (COX15)	NP_001307905.1:n.*1118T>C
NM_001372024.1:c.*337T>C (COX15)	NP_001358953.1:n.*337T>C
NM_001372025.1:c.*1118T>C (COX15)	NP_001358954.1:n.*1118T>C
NM_001372026.1:c.*1118T>C (COX15)	NP_001358955.1:n.*1118T>C
NM_001372027.1:c.*1222T>C (COX15)	NP_001358956.1:n.*1222T>C
NM_001372028.1:c.*545T>C (COX15)	NP_001358957.1:n.*545T>C
NM_004376.7:c.1112T>C (COX15)	NP_004367.2:p.Leu371Ser
NM_078470.6:c.*1118T>C (COX15) MANE Select	NP_510870.1:n.*1118T>C
NR_164009.1:n.2191T>C (COX15)