Canonical Allele Identifier: CA129831

Gene: COQ6 ENTPD5

Linked Data

• ClinVar Variation Id: 31598
• ClinVar RCV Id: RCV000024303
• dbSNP Id: rs189840848
• gnomAD v4: 14-73958149-C-T
• MyVariant Identifiers: chr14:g.74424852C>T (hg19) ; chr14:g.73958149C>T (hg38)
• PubMed: PMID:21540551 ; PMID:28125198

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73958149C>T , CM000676.2:g.73958149C>T	GRCh38
NC_000014.8:g.74424852C>T , CM000676.1:g.74424852C>T	GRCh37
NC_000014.7:g.73494605C>T	NCBI36
NG_032805.1:g.13216C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.484C>T (COQ6) MANE Select	ENSP00000333946.2:p.Arg162Ter
ENST00000238709.8:c.481C>T (COQ6)	ENSP00000238709.5:p.Arg161Ter
ENST00000334571.6:c.484C>T (COQ6)	ENSP00000333946.2:p.Arg162Ter
ENST00000394026.8:c.409C>T (COQ6)	ENSP00000377594.4:p.Arg137Ter
ENST00000553462.6:n.332C>T (COQ6)
ENST00000554153.5:c.*89C>T (COQ6)	ENSP00000451685.1:n.*89C>T
ENST00000554320.1:c.259C>T (COQ6)	ENSP00000451123.1:p.Arg87Ter
ENST00000554341.6:c.*89C>T (COQ6)	ENSP00000450736.2:n.*89C>T
ENST00000554920.5:c.481+2221C>T (COQ6)	ENSP00000451562.1:n.481+2221C>T
ENST00000555511.5:n.602C>T (COQ6)
ENST00000556300.6:n.518C>T (COQ6)
ENST00000557205.6:n.448C>T (COQ6)
ENST00000557325.5:c.*1381G>A (ENTPD5)	ENSP00000451810.1:n.*1381G>A
ENST00000557584.5:c.*89C>T (COQ6)	ENSP00000450511.1:n.*89C>T
ENST00000629426.2:c.259C>T (COQ6)	ENSP00000486650.1:p.Arg87Ter
NM_182476.2:c.484C>T (COQ6)	NP_872282.1:p.Arg162Ter
NM_182480.2:c.409C>T (COQ6)	NP_872286.2:p.Arg137Ter
XM_005267716.1:c.319C>T (COQ6)	XP_005267773.1:p.Arg107Ter
XM_006720156.1:c.157C>T (COQ6)	XP_006720219.1:p.Arg53Ter
XM_011536807.1:c.484C>T (COQ6)	XP_011535109.1:p.Arg162Ter
XM_011536808.1:c.259C>T (COQ6)	XP_011535110.1:p.Arg87Ter
XM_011536809.1:c.259C>T (COQ6)	XP_011535111.1:p.Arg87Ter
XM_011536810.1:c.484C>T (COQ6)	XP_011535112.1:p.Arg162Ter
XM_011536811.1:c.73-822C>T (COQ6)	XP_011535113.1:n.73-822C>T
XR_943465.1:n.537C>T (COQ6)
XR_943466.1:n.537C>T (COQ6)
NM_001330189.1:c.*1381G>A (ENTPD5)	NP_001317118.1:n.*1381G>A
XM_011536807.2:c.484C>T (COQ6)	XP_011535109.1:p.Arg162Ter
XM_011536808.2:c.259C>T (COQ6)	XP_011535110.1:p.Arg87Ter
XM_011536809.3:c.259C>T (COQ6)	XP_011535111.1:p.Arg87Ter
XM_011536810.3:c.484C>T (COQ6)	XP_011535112.1:p.Arg162Ter
XM_017021351.2:c.73-822C>T (COQ6)	XP_016876840.1:n.73-822C>T
XM_017021352.2:c.-816C>T (COQ6)	XP_016876841.1:n.-816C>T
XM_024449619.1:c.-265C>T (COQ6)	XP_024305387.1:n.-265C>T
XR_001750342.1:n.448C>T (COQ6)
XR_943465.3:n.514C>T (COQ6)
XR_943466.3:n.514C>T (COQ6)
NM_001330189.2:c.*1381G>A (ENTPD5)	NP_001317118.1:n.*1381G>A
NM_182476.3:c.484C>T (COQ6) MANE Select	NP_872282.1:p.Arg162Ter
NM_001382258.1:c.1201-2562G>A (ENTPD5)	NP_001369187.1:n.1201-2562G>A
NM_001382259.1:c.*1381G>A (ENTPD5)	NP_001369188.1:n.*1381G>A
NM_001382260.1:c.*1381G>A (ENTPD5)	NP_001369189.1:n.*1381G>A
NM_001382262.1:c.1201-2321G>A (ENTPD5)	NP_001369191.1:n.1201-2321G>A
NM_182480.3:c.409C>T (COQ6)	NP_872286.2:p.Arg137Ter