Canonical Allele Identifier: CA212822052

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs906449340
• gnomAD v2: 10-101473101-A-G
• gnomAD v3: 10-99713344-A-G
• gnomAD v4: 10-99713344-A-G
• MyVariant Identifiers: chr10:g.101473101A>G (hg19) ; chr10:g.99713344A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713344A>G , CM000672.2:g.99713344A>G	GRCh38
NC_000010.10:g.101473101A>G , CM000672.1:g.101473101A>G	GRCh37
NC_000010.9:g.101463091A>G	NCBI36
NG_008986.1:g.24323T>C , LRG_406:g.24323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1243T>C (COX15) MANE Select	ENSP00000016171.6:n.*1243T>C
ENST00000649102.1:c.*460+3004T>C	ENSP00000497114.1:n.*460+3004T>C
ENST00000370483.9:c.*70T>C (COX15)	ENSP00000359514.5:n.*70T>C
ENST00000493385.5:n.117-9574A>G (CUTC)
NM_004376.5:c.*70T>C , LRG_406t2:c.*70T>C (COX15)	NP_004367.2:n.*70T>C
NM_078470.4:c.*1243T>C , LRG_406t1:c.*1243T>C (COX15)	NP_510870.1:n.*1243T>C
XM_005269539.3:c.1101+3004T>C (COX15)	XP_005269596.1:n.1101+3004T>C
XM_006717633.2:c.*1424T>C (COX15)	XP_006717696.1:n.*1424T>C
XM_006717634.2:c.*49+3004T>C (COX15)	XP_006717697.1:n.*49+3004T>C
NM_001320974.1:c.1101+3004T>C (COX15)	NP_001307903.1:n.1101+3004T>C
NM_001320975.1:c.*1424T>C (COX15)	NP_001307904.1:n.*1424T>C
NM_001320976.1:c.*1243T>C (COX15)	NP_001307905.1:n.*1243T>C
NM_004376.6:c.*70T>C (COX15)	NP_004367.2:n.*70T>C
NM_078470.5:c.*1243T>C (COX15)	NP_510870.1:n.*1243T>C
XM_006717634.3:c.*49+3004T>C (COX15)	XP_006717697.1:n.*49+3004T>C
XM_011539298.2:c.*185T>C (COX15)	XP_011537600.1:n.*185T>C
NM_001320974.2:c.1101+3004T>C (COX15)	NP_001307903.1:n.1101+3004T>C
NM_001320975.2:c.*1424T>C (COX15)	NP_001307904.1:n.*1424T>C
NM_001320976.2:c.*1243T>C (COX15)	NP_001307905.1:n.*1243T>C
NM_001372024.1:c.*462T>C (COX15)	NP_001358953.1:n.*462T>C
NM_001372025.1:c.*1243T>C (COX15)	NP_001358954.1:n.*1243T>C
NM_001372026.1:c.*1243T>C (COX15)	NP_001358955.1:n.*1243T>C
NM_001372027.1:c.*1347T>C (COX15)	NP_001358956.1:n.*1347T>C
NM_001372028.1:c.*670T>C (COX15)	NP_001358957.1:n.*670T>C
NM_004376.7:c.*70T>C (COX15)	NP_004367.2:n.*70T>C
NM_078470.6:c.*1243T>C (COX15) MANE Select	NP_510870.1:n.*1243T>C
NR_164009.1:n.2316T>C (COX15)