Canonical Allele Identifier: CA931706347

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs2036476664
• gnomAD v3: 10-99713815-C-T
• gnomAD v4: 10-99713815-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713815C>T , CM000672.2:g.99713815C>T	GRCh38
NC_000010.10:g.101473572C>T , CM000672.1:g.101473572C>T	GRCh37
NC_000010.9:g.101463562C>T	NCBI36
NG_008986.1:g.23852G>A , LRG_406:g.23852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*772G>A (COX15) MANE Select	ENSP00000016171.6:n.*772G>A
ENST00000649102.1:c.*460+2533G>A	ENSP00000497114.1:n.*460+2533G>A
ENST00000016171.5:c.*772G>A (COX15)	ENSP00000016171.5:n.*772G>A
ENST00000370483.9:c.1102-336G>A (COX15)	ENSP00000359514.5:n.1102-336G>A
ENST00000493385.5:n.117-9103C>T (CUTC)
NM_004376.5:c.1102-336G>A , LRG_406t2:c.1102-336G>A (COX15)	NP_004367.2:n.1102-336G>A
NM_078470.4:c.*772G>A , LRG_406t1:c.*772G>A (COX15)	NP_510870.1:n.*772G>A
XM_005269539.3:c.1101+2533G>A (COX15)	XP_005269596.1:n.1101+2533G>A
XM_006717633.2:c.*953G>A (COX15)	XP_006717696.1:n.*953G>A
XM_006717634.2:c.*49+2533G>A (COX15)	XP_006717697.1:n.*49+2533G>A
XM_011539298.1:c.*50-336G>A (COX15)	XP_011537600.1:n.*50-336G>A
NM_001320974.1:c.1101+2533G>A (COX15)	NP_001307903.1:n.1101+2533G>A
NM_001320975.1:c.*953G>A (COX15)	NP_001307904.1:n.*953G>A
NM_001320976.1:c.*772G>A (COX15)	NP_001307905.1:n.*772G>A
NM_004376.6:c.1102-336G>A (COX15)	NP_004367.2:n.1102-336G>A
NM_078470.5:c.*772G>A (COX15)	NP_510870.1:n.*772G>A
XM_006717634.3:c.*49+2533G>A (COX15)	XP_006717697.1:n.*49+2533G>A
XM_011539298.2:c.*50-336G>A (COX15)	XP_011537600.1:n.*50-336G>A
NM_001320974.2:c.1101+2533G>A (COX15)	NP_001307903.1:n.1101+2533G>A
NM_001320975.2:c.*953G>A (COX15)	NP_001307904.1:n.*953G>A
NM_001320976.2:c.*772G>A (COX15)	NP_001307905.1:n.*772G>A
NM_001372024.1:c.1251G>A (COX15)	NP_001358953.1:p.Leu417=
NM_001372025.1:c.*772G>A (COX15)	NP_001358954.1:n.*772G>A
NM_001372026.1:c.*772G>A (COX15)	NP_001358955.1:n.*772G>A
NM_001372027.1:c.*876G>A (COX15)	NP_001358956.1:n.*876G>A
NM_001372028.1:c.*199G>A (COX15)	NP_001358957.1:n.*199G>A
NM_004376.7:c.1102-336G>A (COX15)	NP_004367.2:n.1102-336G>A
NM_078470.6:c.*772G>A (COX15) MANE Select	NP_510870.1:n.*772G>A
NR_164009.1:n.1845G>A (COX15)