Canonical Allele Identifier: CA2589023012

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs2133562381
• gnomAD v3: 10-99713373-C-T
• gnomAD v4: 10-99713373-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713373C>T , CM000672.2:g.99713373C>T	GRCh38
NC_000010.10:g.101473130C>T , CM000672.1:g.101473130C>T	GRCh37
NC_000010.9:g.101463120C>T	NCBI36
NG_008986.1:g.24294G>A , LRG_406:g.24294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*1214G>A (COX15) MANE Select	ENSP00000016171.6:n.*1214G>A
ENST00000649102.1:c.*460+2975G>A	ENSP00000497114.1:n.*460+2975G>A
ENST00000370483.9:c.*41G>A (COX15)	ENSP00000359514.5:n.*41G>A
ENST00000493385.5:n.117-9545C>T (CUTC)
NM_004376.5:c.*41G>A , LRG_406t2:c.*41G>A (COX15)	NP_004367.2:n.*41G>A
NM_078470.4:c.*1214G>A , LRG_406t1:c.*1214G>A (COX15)	NP_510870.1:n.*1214G>A
XM_005269539.3:c.1101+2975G>A (COX15)	XP_005269596.1:n.1101+2975G>A
XM_006717633.2:c.*1395G>A (COX15)	XP_006717696.1:n.*1395G>A
XM_006717634.2:c.*49+2975G>A (COX15)	XP_006717697.1:n.*49+2975G>A
NM_001320974.1:c.1101+2975G>A (COX15)	NP_001307903.1:n.1101+2975G>A
NM_001320975.1:c.*1395G>A (COX15)	NP_001307904.1:n.*1395G>A
NM_001320976.1:c.*1214G>A (COX15)	NP_001307905.1:n.*1214G>A
NM_004376.6:c.*41G>A (COX15)	NP_004367.2:n.*41G>A
NM_078470.5:c.*1214G>A (COX15)	NP_510870.1:n.*1214G>A
XM_006717634.3:c.*49+2975G>A (COX15)	XP_006717697.1:n.*49+2975G>A
XM_011539298.2:c.*156G>A (COX15)	XP_011537600.1:n.*156G>A
NM_001320974.2:c.1101+2975G>A (COX15)	NP_001307903.1:n.1101+2975G>A
NM_001320975.2:c.*1395G>A (COX15)	NP_001307904.1:n.*1395G>A
NM_001320976.2:c.*1214G>A (COX15)	NP_001307905.1:n.*1214G>A
NM_001372024.1:c.*433G>A (COX15)	NP_001358953.1:n.*433G>A
NM_001372025.1:c.*1214G>A (COX15)	NP_001358954.1:n.*1214G>A
NM_001372026.1:c.*1214G>A (COX15)	NP_001358955.1:n.*1214G>A
NM_001372027.1:c.*1318G>A (COX15)	NP_001358956.1:n.*1318G>A
NM_001372028.1:c.*641G>A (COX15)	NP_001358957.1:n.*641G>A
NM_004376.7:c.*41G>A (COX15)	NP_004367.2:n.*41G>A
NM_078470.6:c.*1214G>A (COX15) MANE Select	NP_510870.1:n.*1214G>A
NR_164009.1:n.2287G>A (COX15)