Canonical Allele Identifier: CA1931452048

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs1590078672
• gnomAD v4: 10-99713340-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713340G>A , CM000672.2:g.99713340G>A	GRCh38
NC_000010.10:g.101473097G>A , CM000672.1:g.101473097G>A	GRCh37
NC_000010.9:g.101463087G>A	NCBI36
NG_008986.1:g.24327C>T , LRG_406:g.24327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1247C>T (COX15) MANE Select	ENSP00000016171.6:n.*1247C>T
ENST00000649102.1:c.*460+3008C>T	ENSP00000497114.1:n.*460+3008C>T
ENST00000370483.9:c.*74C>T (COX15)	ENSP00000359514.5:n.*74C>T
ENST00000493385.5:n.117-9578G>A (CUTC)
NM_004376.5:c.*74C>T , LRG_406t2:c.*74C>T (COX15)	NP_004367.2:n.*74C>T
NM_078470.4:c.*1247C>T , LRG_406t1:c.*1247C>T (COX15)	NP_510870.1:n.*1247C>T
XM_005269539.3:c.1101+3008C>T (COX15)	XP_005269596.1:n.1101+3008C>T
XM_006717633.2:c.*1428C>T (COX15)	XP_006717696.1:n.*1428C>T
XM_006717634.2:c.*49+3008C>T (COX15)	XP_006717697.1:n.*49+3008C>T
NM_001320974.1:c.1101+3008C>T (COX15)	NP_001307903.1:n.1101+3008C>T
NM_001320975.1:c.*1428C>T (COX15)	NP_001307904.1:n.*1428C>T
NM_001320976.1:c.*1247C>T (COX15)	NP_001307905.1:n.*1247C>T
NM_004376.6:c.*74C>T (COX15)	NP_004367.2:n.*74C>T
NM_078470.5:c.*1247C>T (COX15)	NP_510870.1:n.*1247C>T
XM_006717634.3:c.*49+3008C>T (COX15)	XP_006717697.1:n.*49+3008C>T
XM_011539298.2:c.*189C>T (COX15)	XP_011537600.1:n.*189C>T
NM_001320974.2:c.1101+3008C>T (COX15)	NP_001307903.1:n.1101+3008C>T
NM_001320975.2:c.*1428C>T (COX15)	NP_001307904.1:n.*1428C>T
NM_001320976.2:c.*1247C>T (COX15)	NP_001307905.1:n.*1247C>T
NM_001372024.1:c.*466C>T (COX15)	NP_001358953.1:n.*466C>T
NM_001372025.1:c.*1247C>T (COX15)	NP_001358954.1:n.*1247C>T
NM_001372026.1:c.*1247C>T (COX15)	NP_001358955.1:n.*1247C>T
NM_001372027.1:c.*1351C>T (COX15)	NP_001358956.1:n.*1351C>T
NM_001372028.1:c.*674C>T (COX15)	NP_001358957.1:n.*674C>T
NM_004376.7:c.*74C>T (COX15)	NP_004367.2:n.*74C>T
NM_078470.6:c.*1247C>T (COX15) MANE Select	NP_510870.1:n.*1247C>T
NR_164009.1:n.2320C>T (COX15)