Canonical Allele Identifier: CA5642060

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs751386316
• ExAC: 10:101474387 C / A
• gnomAD v2: 10-101474387-C-A
• gnomAD v4: 10-99714630-C-A
• MyVariant Identifiers: chr10:g.101474387C>A (hg19) ; chr10:g.99714630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99714630C>A , CM000672.2:g.99714630C>A	GRCh38
NC_000010.10:g.101474387C>A , CM000672.1:g.101474387C>A	GRCh37
NC_000010.9:g.101464377C>A	NCBI36
NG_008986.1:g.23037G>T , LRG_406:g.23037G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000016171.6:c.1190G>T (COX15) MANE Select	ENSP00000016171.6:p.Gly397Val
ENST00000649102.1:c.*460+1718G>T	ENSP00000497114.1:n.*460+1718G>T
ENST00000016171.5:c.1190G>T (COX15)	ENSP00000016171.5:p.Gly397Val
ENST00000370483.9:c.1102-1151G>T (COX15)	ENSP00000359514.5:n.1102-1151G>T
ENST00000493385.5:n.117-8288C>A (CUTC)
NM_004376.5:c.1102-1151G>T , LRG_406t2:c.1102-1151G>T (COX15)	NP_004367.2:n.1102-1151G>T
NM_078470.4:c.1190G>T , LRG_406t1:c.1190G>T (COX15)	NP_510870.1:p.Gly397Val
XM_005269539.3:c.1101+1718G>T (COX15)	XP_005269596.1:n.1101+1718G>T
XM_006717633.2:c.*138G>T (COX15)	XP_006717696.1:n.*138G>T
XM_006717634.2:c.*49+1718G>T (COX15)	XP_006717697.1:n.*49+1718G>T
XM_011539298.1:c.*50-1151G>T (COX15)	XP_011537600.1:n.*50-1151G>T
NM_001320974.1:c.1101+1718G>T (COX15)	NP_001307903.1:n.1101+1718G>T
NM_001320975.1:c.*138G>T (COX15)	NP_001307904.1:n.*138G>T
NM_001320976.1:c.653G>T (COX15)	NP_001307905.1:p.Gly218Val
NM_004376.6:c.1102-1151G>T (COX15)	NP_004367.2:n.1102-1151G>T
NM_078470.5:c.1190G>T (COX15)	NP_510870.1:p.Gly397Val
XM_006717634.3:c.*49+1718G>T (COX15)	XP_006717697.1:n.*49+1718G>T
XM_011539298.2:c.*50-1151G>T (COX15)	XP_011537600.1:n.*50-1151G>T
NM_001320974.2:c.1101+1718G>T (COX15)	NP_001307903.1:n.1101+1718G>T
NM_001320975.2:c.*138G>T (COX15)	NP_001307904.1:n.*138G>T
NM_001320976.2:c.653G>T (COX15)	NP_001307905.1:p.Gly218Val
NM_001372024.1:c.1102-666G>T (COX15)	NP_001358953.1:n.1102-666G>T
NM_001372025.1:c.1208G>T (COX15)	NP_001358954.1:p.Gly403Val
NM_001372026.1:c.1163G>T (COX15)	NP_001358955.1:p.Gly388Val
NM_001372027.1:c.*61G>T (COX15)	NP_001358956.1:n.*61G>T
NM_001372028.1:c.*50-666G>T (COX15)	NP_001358957.1:n.*50-666G>T
NM_004376.7:c.1102-1151G>T (COX15)	NP_004367.2:n.1102-1151G>T
NM_078470.6:c.1190G>T (COX15) MANE Select	NP_510870.1:p.Gly397Val
NR_164009.1:n.1030G>T (COX15)