Canonical Allele Identifier: CA595450090

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs1384587653
• gnomAD v2: 10-101473048-T-C
• gnomAD v3: 10-99713291-T-C
• gnomAD v4: 10-99713291-T-C
• MyVariant Identifiers: chr10:g.101473048T>C (hg19) ; chr10:g.99713291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713291T>C , CM000672.2:g.99713291T>C	GRCh38
NC_000010.10:g.101473048T>C , CM000672.1:g.101473048T>C	GRCh37
NC_000010.9:g.101463038T>C	NCBI36
NG_008986.1:g.24376A>G , LRG_406:g.24376A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1296A>G (COX15) MANE Select	ENSP00000016171.6:n.*1296A>G
ENST00000649102.1:c.*460+3057A>G	ENSP00000497114.1:n.*460+3057A>G
ENST00000370483.9:c.*123A>G (COX15)	ENSP00000359514.5:n.*123A>G
ENST00000493385.5:n.117-9627T>C (CUTC)
NM_004376.5:c.*123A>G , LRG_406t2:c.*123A>G (COX15)	NP_004367.2:n.*123A>G
NM_078470.4:c.*1296A>G , LRG_406t1:c.*1296A>G (COX15)	NP_510870.1:n.*1296A>G
XM_005269539.3:c.1101+3057A>G (COX15)	XP_005269596.1:n.1101+3057A>G
XM_006717633.2:c.*1477A>G (COX15)	XP_006717696.1:n.*1477A>G
XM_006717634.2:c.*49+3057A>G (COX15)	XP_006717697.1:n.*49+3057A>G
NM_001320974.1:c.1101+3057A>G (COX15)	NP_001307903.1:n.1101+3057A>G
NM_001320975.1:c.*1477A>G (COX15)	NP_001307904.1:n.*1477A>G
NM_001320976.1:c.*1296A>G (COX15)	NP_001307905.1:n.*1296A>G
NM_004376.6:c.*123A>G (COX15)	NP_004367.2:n.*123A>G
NM_078470.5:c.*1296A>G (COX15)	NP_510870.1:n.*1296A>G
XM_006717634.3:c.*49+3057A>G (COX15)	XP_006717697.1:n.*49+3057A>G
XM_011539298.2:c.*238A>G (COX15)	XP_011537600.1:n.*238A>G
NM_001320974.2:c.1101+3057A>G (COX15)	NP_001307903.1:n.1101+3057A>G
NM_001320975.2:c.*1477A>G (COX15)	NP_001307904.1:n.*1477A>G
NM_001320976.2:c.*1296A>G (COX15)	NP_001307905.1:n.*1296A>G
NM_001372024.1:c.*515A>G (COX15)	NP_001358953.1:n.*515A>G
NM_001372025.1:c.*1296A>G (COX15)	NP_001358954.1:n.*1296A>G
NM_001372026.1:c.*1296A>G (COX15)	NP_001358955.1:n.*1296A>G
NM_001372027.1:c.*1400A>G (COX15)	NP_001358956.1:n.*1400A>G
NM_001372028.1:c.*723A>G (COX15)	NP_001358957.1:n.*723A>G
NM_004376.7:c.*123A>G (COX15)	NP_004367.2:n.*123A>G
NM_078470.6:c.*1296A>G (COX15) MANE Select	NP_510870.1:n.*1296A>G
NR_164009.1:n.2369A>G (COX15)