Canonical Allele Identifier: CA212822291

Gene: COX15 CUTC

Linked Data

• dbSNP Id: rs543364106
• gnomAD v2: 10-101473459-G-A
• gnomAD v3: 10-99713702-G-A
• gnomAD v4: 10-99713702-G-A
• MyVariant Identifiers: chr10:g.101473459G>A (hg19) ; chr10:g.99713702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99713702G>A , CM000672.2:g.99713702G>A	GRCh38
NC_000010.10:g.101473459G>A , CM000672.1:g.101473459G>A	GRCh37
NC_000010.9:g.101463449G>A	NCBI36
NG_008986.1:g.23965C>T , LRG_406:g.23965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.*885C>T (COX15) MANE Select	ENSP00000016171.6:n.*885C>T
ENST00000649102.1:c.*460+2646C>T	ENSP00000497114.1:n.*460+2646C>T
ENST00000016171.5:c.*885C>T (COX15)	ENSP00000016171.5:n.*885C>T
ENST00000370483.9:c.1102-223C>T (COX15)	ENSP00000359514.5:n.1102-223C>T
ENST00000493385.5:n.117-9216G>A (CUTC)
NM_004376.5:c.1102-223C>T , LRG_406t2:c.1102-223C>T (COX15)	NP_004367.2:n.1102-223C>T
NM_078470.4:c.*885C>T , LRG_406t1:c.*885C>T (COX15)	NP_510870.1:n.*885C>T
XM_005269539.3:c.1101+2646C>T (COX15)	XP_005269596.1:n.1101+2646C>T
XM_006717633.2:c.*1066C>T (COX15)	XP_006717696.1:n.*1066C>T
XM_006717634.2:c.*49+2646C>T (COX15)	XP_006717697.1:n.*49+2646C>T
XM_011539298.1:c.*50-223C>T (COX15)	XP_011537600.1:n.*50-223C>T
NM_001320974.1:c.1101+2646C>T (COX15)	NP_001307903.1:n.1101+2646C>T
NM_001320975.1:c.*1066C>T (COX15)	NP_001307904.1:n.*1066C>T
NM_001320976.1:c.*885C>T (COX15)	NP_001307905.1:n.*885C>T
NM_004376.6:c.1102-223C>T (COX15)	NP_004367.2:n.1102-223C>T
NM_078470.5:c.*885C>T (COX15)	NP_510870.1:n.*885C>T
XM_006717634.3:c.*49+2646C>T (COX15)	XP_006717697.1:n.*49+2646C>T
XM_011539298.2:c.*50-223C>T (COX15)	XP_011537600.1:n.*50-223C>T
NM_001320974.2:c.1101+2646C>T (COX15)	NP_001307903.1:n.1101+2646C>T
NM_001320975.2:c.*1066C>T (COX15)	NP_001307904.1:n.*1066C>T
NM_001320976.2:c.*885C>T (COX15)	NP_001307905.1:n.*885C>T
NM_001372024.1:c.*104C>T (COX15)	NP_001358953.1:n.*104C>T
NM_001372025.1:c.*885C>T (COX15)	NP_001358954.1:n.*885C>T
NM_001372026.1:c.*885C>T (COX15)	NP_001358955.1:n.*885C>T
NM_001372027.1:c.*989C>T (COX15)	NP_001358956.1:n.*989C>T
NM_001372028.1:c.*312C>T (COX15)	NP_001358957.1:n.*312C>T
NM_004376.7:c.1102-223C>T (COX15)	NP_004367.2:n.1102-223C>T
NM_078470.6:c.*885C>T (COX15) MANE Select	NP_510870.1:n.*885C>T
NR_164009.1:n.1958C>T (COX15)