Canonical Allele Identifier: CA290484

Gene: COX15 CUTC

Linked Data

• ClinVar Variation Id: 137013
• ClinVar RCV Id: RCV000124578 ; RCV000426006 ; RCV001106672
• dbSNP Id: rs542092025
• ExAC: 10:101476226 G / T
• gnomAD v2: 10-101476226-G-T
• gnomAD v3: 10-99716469-G-T
• gnomAD v4: 10-99716469-G-T
• MyVariant Identifiers: chr10:g.101476226G>T (hg19) ; chr10:g.99716469G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99716469G>T , CM000672.2:g.99716469G>T	GRCh38
NC_000010.10:g.101476226G>T , CM000672.1:g.101476226G>T	GRCh37
NC_000010.9:g.101466216G>T	NCBI36
NG_008986.1:g.21198C>A , LRG_406:g.21198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000016171.6:c.988-8C>A (COX15) MANE Select	ENSP00000016171.6:n.988-8C>A
ENST00000649102.1:c.*347-8C>A	ENSP00000497114.1:n.*347-8C>A
ENST00000016171.5:c.988-8C>A (COX15)	ENSP00000016171.5:n.988-8C>A
ENST00000370483.9:c.988-8C>A (COX15)	ENSP00000359514.5:n.988-8C>A
ENST00000493385.5:n.117-6449G>T (CUTC)
ENST00000497381.1:n.178C>A (COX15)
NM_004376.5:c.988-8C>A , LRG_406t2:c.988-8C>A (COX15)	NP_004367.2:n.988-8C>A
NM_078470.4:c.988-8C>A , LRG_406t1:c.988-8C>A (COX15)	NP_510870.1:n.988-8C>A
XM_005269539.3:c.988-8C>A (COX15)	XP_005269596.1:n.988-8C>A
XM_006717633.2:c.833-8C>A (COX15)	XP_006717696.1:n.833-8C>A
XM_006717634.2:c.833-8C>A (COX15)	XP_006717697.1:n.833-8C>A
XM_011539298.1:c.833-8C>A (COX15)	XP_011537600.1:n.833-8C>A
NM_001320974.1:c.988-8C>A (COX15)	NP_001307903.1:n.988-8C>A
NM_001320975.1:c.833-8C>A (COX15)	NP_001307904.1:n.833-8C>A
NM_001320976.1:c.451-8C>A (COX15)	NP_001307905.1:n.451-8C>A
NM_004376.6:c.988-8C>A (COX15)	NP_004367.2:n.988-8C>A
NM_078470.5:c.988-8C>A (COX15)	NP_510870.1:n.988-8C>A
XM_006717634.3:c.833-8C>A (COX15)	XP_006717697.1:n.833-8C>A
XM_011539298.2:c.833-8C>A (COX15)	XP_011537600.1:n.833-8C>A
NM_001320974.2:c.988-8C>A (COX15)	NP_001307903.1:n.988-8C>A
NM_001320975.2:c.833-8C>A (COX15)	NP_001307904.1:n.833-8C>A
NM_001320976.2:c.451-8C>A (COX15)	NP_001307905.1:n.451-8C>A
NM_001372024.1:c.988-8C>A (COX15)	NP_001358953.1:n.988-8C>A
NM_001372025.1:c.998C>A (COX15)	NP_001358954.1:p.Ser333Tyr
NM_001372026.1:c.961-8C>A (COX15)	NP_001358955.1:n.961-8C>A
NM_001372027.1:c.988-8C>A (COX15)	NP_001358956.1:n.988-8C>A
NM_001372028.1:c.833-8C>A (COX15)	NP_001358957.1:n.833-8C>A
NM_004376.7:c.988-8C>A (COX15)	NP_004367.2:n.988-8C>A
NM_078470.6:c.988-8C>A (COX15) MANE Select	NP_510870.1:n.988-8C>A
NR_164009.1:n.828-8C>A (COX15)