Canonical Allele Identifier: CA471122802

Gene: COX15 CUTC

Linked Data

• ClinVar Variation Id: 2061257
• ClinVar RCV Id: RCV002942585
• dbSNP Id: rs148525464
• gnomAD v4: 10-99727076-A-C
• MyVariant Identifiers: chr10:g.101486833A>C (hg19) ; chr10:g.99727076A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99727076A>C , CM000672.2:g.99727076A>C	GRCh38
NC_000010.10:g.101486833A>C , CM000672.1:g.101486833A>C	GRCh37
NC_000010.9:g.101476823A>C	NCBI36
NG_008986.1:g.10591T>G , LRG_406:g.10591T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.474T>G (COX15) MANE Select	ENSP00000016171.6:p.Leu158=
ENST00000649102.1:c.396-5T>G	ENSP00000497114.1:n.396-5T>G
ENST00000016171.5:c.474T>G (COX15)	ENSP00000016171.5:p.Leu158=
ENST00000370483.9:c.474T>G (COX15)	ENSP00000359514.5:p.Leu158=
ENST00000493385.5:n.309+3966A>C (CUTC)
NM_004376.5:c.474T>G , LRG_406t2:c.474T>G (COX15)	NP_004367.2:p.Leu158=
NM_078470.4:c.474T>G , LRG_406t1:c.474T>G (COX15)	NP_510870.1:p.Leu158=
XM_005269539.3:c.474T>G (COX15)	XP_005269596.1:p.Leu158=
XM_006717633.2:c.474T>G (COX15)	XP_006717696.1:p.Leu158=
XM_006717634.2:c.474T>G (COX15)	XP_006717697.1:p.Leu158=
XM_011539298.1:c.474T>G (COX15)	XP_011537600.1:p.Leu158=
NM_001320974.1:c.474T>G (COX15)	NP_001307903.1:p.Leu158=
NM_001320975.1:c.474T>G (COX15)	NP_001307904.1:p.Leu158=
NM_001320976.1:c.-59-5T>G (COX15)	NP_001307905.1:n.-59-5T>G
NM_004376.6:c.474T>G (COX15)	NP_004367.2:p.Leu158=
NM_078470.5:c.474T>G (COX15)	NP_510870.1:p.Leu158=
XM_006717634.3:c.474T>G (COX15)	XP_006717697.1:p.Leu158=
XM_011539298.2:c.474T>G (COX15)	XP_011537600.1:p.Leu158=
NM_001320974.2:c.474T>G (COX15)	NP_001307903.1:p.Leu158=
NM_001320975.2:c.474T>G (COX15)	NP_001307904.1:p.Leu158=
NM_001320976.2:c.-59-5T>G (COX15)	NP_001307905.1:n.-59-5T>G
NM_001372024.1:c.474T>G (COX15)	NP_001358953.1:p.Leu158=
NM_001372025.1:c.474T>G (COX15)	NP_001358954.1:p.Leu158=
NM_001372026.1:c.474T>G (COX15)	NP_001358955.1:p.Leu158=
NM_001372027.1:c.474T>G (COX15)	NP_001358956.1:p.Leu158=
NM_001372028.1:c.474T>G (COX15)	NP_001358957.1:p.Leu158=
NM_004376.7:c.474T>G (COX15)	NP_004367.2:p.Leu158=
NM_078470.6:c.474T>G (COX15) MANE Select	NP_510870.1:p.Leu158=
NR_164009.1:n.474-5T>G (COX15)