Canonical Allele Identifier: CA378101147

Gene: COX15 CUTC

Linked Data

• gnomAD v4: 10-99713462-G-C
• MyVariant Identifiers: chr10:g.101473219G>C (hg19) ; chr10:g.99713462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713462G>C , CM000672.2:g.99713462G>C	GRCh38
NC_000010.10:g.101473219G>C , CM000672.1:g.101473219G>C	GRCh37
NC_000010.9:g.101463209G>C	NCBI36
NG_008986.1:g.24205C>G , LRG_406:g.24205C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1125C>G (COX15) MANE Select	ENSP00000016171.6:n.*1125C>G
ENST00000649102.1:c.*460+2886C>G	ENSP00000497114.1:n.*460+2886C>G
ENST00000370483.9:c.1119C>G (COX15)	ENSP00000359514.5:p.Asn373Lys
ENST00000493385.5:n.117-9456G>C (CUTC)
NM_004376.5:c.1119C>G , LRG_406t2:c.1119C>G (COX15)	NP_004367.2:p.Asn373Lys
NM_078470.4:c.*1125C>G , LRG_406t1:c.*1125C>G (COX15)	NP_510870.1:n.*1125C>G
XM_005269539.3:c.1101+2886C>G (COX15)	XP_005269596.1:n.1101+2886C>G
XM_006717633.2:c.*1306C>G (COX15)	XP_006717696.1:n.*1306C>G
XM_006717634.2:c.*49+2886C>G (COX15)	XP_006717697.1:n.*49+2886C>G
XM_011539298.1:c.*67C>G (COX15)	XP_011537600.1:n.*67C>G
NM_001320974.1:c.1101+2886C>G (COX15)	NP_001307903.1:n.1101+2886C>G
NM_001320975.1:c.*1306C>G (COX15)	NP_001307904.1:n.*1306C>G
NM_001320976.1:c.*1125C>G (COX15)	NP_001307905.1:n.*1125C>G
NM_004376.6:c.1119C>G (COX15)	NP_004367.2:p.Asn373Lys
NM_078470.5:c.*1125C>G (COX15)	NP_510870.1:n.*1125C>G
XM_006717634.3:c.*49+2886C>G (COX15)	XP_006717697.1:n.*49+2886C>G
XM_011539298.2:c.*67C>G (COX15)	XP_011537600.1:n.*67C>G
NM_001320974.2:c.1101+2886C>G (COX15)	NP_001307903.1:n.1101+2886C>G
NM_001320975.2:c.*1306C>G (COX15)	NP_001307904.1:n.*1306C>G
NM_001320976.2:c.*1125C>G (COX15)	NP_001307905.1:n.*1125C>G
NM_001372024.1:c.*344C>G (COX15)	NP_001358953.1:n.*344C>G
NM_001372025.1:c.*1125C>G (COX15)	NP_001358954.1:n.*1125C>G
NM_001372026.1:c.*1125C>G (COX15)	NP_001358955.1:n.*1125C>G
NM_001372027.1:c.*1229C>G (COX15)	NP_001358956.1:n.*1229C>G
NM_001372028.1:c.*552C>G (COX15)	NP_001358957.1:n.*552C>G
NM_004376.7:c.1119C>G (COX15)	NP_004367.2:p.Asn373Lys
NM_078470.6:c.*1125C>G (COX15) MANE Select	NP_510870.1:n.*1125C>G
NR_164009.1:n.2198C>G (COX15)