Canonical Allele Identifier: CA390374860

Gene: COQ6 ENTPD5

Linked Data

• MyVariant Identifiers: chr14:g.74424862T>G (hg19) ; chr14:g.73958159T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73958159T>G , CM000676.2:g.73958159T>G	GRCh38
NC_000014.8:g.74424862T>G , CM000676.1:g.74424862T>G	GRCh37
NC_000014.7:g.73494615T>G	NCBI36
NG_032805.1:g.13226T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.494T>G (COQ6) MANE Select	ENSP00000333946.2:p.Val165Gly
ENST00000238709.8:c.491T>G (COQ6)	ENSP00000238709.5:p.Val164Gly
ENST00000334571.6:c.494T>G (COQ6)	ENSP00000333946.2:p.Val165Gly
ENST00000394026.8:c.419T>G (COQ6)	ENSP00000377594.4:p.Val140Gly
ENST00000553462.6:n.342T>G (COQ6)
ENST00000554153.5:c.*99T>G (COQ6)	ENSP00000451685.1:n.*99T>G
ENST00000554320.1:c.269T>G (COQ6)	ENSP00000451123.1:p.Val90Gly
ENST00000554341.6:c.*99T>G (COQ6)	ENSP00000450736.2:n.*99T>G
ENST00000554920.5:c.481+2231T>G (COQ6)	ENSP00000451562.1:n.481+2231T>G
ENST00000555511.5:n.612T>G (COQ6)
ENST00000556300.6:n.528T>G (COQ6)
ENST00000557205.6:n.458T>G (COQ6)
ENST00000557325.5:c.*1371A>C (ENTPD5)	ENSP00000451810.1:n.*1371A>C
ENST00000557584.5:c.*99T>G (COQ6)	ENSP00000450511.1:n.*99T>G
ENST00000629426.2:c.269T>G (COQ6)	ENSP00000486650.1:p.Val90Gly
NM_182476.2:c.494T>G (COQ6)	NP_872282.1:p.Val165Gly
NM_182480.2:c.419T>G (COQ6)	NP_872286.2:p.Val140Gly
XM_005267716.1:c.329T>G (COQ6)	XP_005267773.1:p.Val110Gly
XM_006720156.1:c.167T>G (COQ6)	XP_006720219.1:p.Val56Gly
XM_011536807.1:c.494T>G (COQ6)	XP_011535109.1:p.Val165Gly
XM_011536808.1:c.269T>G (COQ6)	XP_011535110.1:p.Val90Gly
XM_011536809.1:c.269T>G (COQ6)	XP_011535111.1:p.Val90Gly
XM_011536810.1:c.494T>G (COQ6)	XP_011535112.1:p.Val165Gly
XM_011536811.1:c.73-812T>G (COQ6)	XP_011535113.1:n.73-812T>G
XR_943465.1:n.547T>G (COQ6)
XR_943466.1:n.547T>G (COQ6)
NM_001330189.1:c.*1371A>C (ENTPD5)	NP_001317118.1:n.*1371A>C
XM_011536807.2:c.494T>G (COQ6)	XP_011535109.1:p.Val165Gly
XM_011536808.2:c.269T>G (COQ6)	XP_011535110.1:p.Val90Gly
XM_011536809.3:c.269T>G (COQ6)	XP_011535111.1:p.Val90Gly
XM_011536810.3:c.494T>G (COQ6)	XP_011535112.1:p.Val165Gly
XM_017021351.2:c.73-812T>G (COQ6)	XP_016876840.1:n.73-812T>G
XM_017021352.2:c.-806T>G (COQ6)	XP_016876841.1:n.-806T>G
XM_024449619.1:c.-255T>G (COQ6)	XP_024305387.1:n.-255T>G
XR_001750342.1:n.458T>G (COQ6)
XR_943465.3:n.524T>G (COQ6)
XR_943466.3:n.524T>G (COQ6)
NM_001330189.2:c.*1371A>C (ENTPD5)	NP_001317118.1:n.*1371A>C
NM_182476.3:c.494T>G (COQ6) MANE Select	NP_872282.1:p.Val165Gly
NM_001382258.1:c.1201-2572A>C (ENTPD5)	NP_001369187.1:n.1201-2572A>C
NM_001382259.1:c.*1371A>C (ENTPD5)	NP_001369188.1:n.*1371A>C
NM_001382260.1:c.*1371A>C (ENTPD5)	NP_001369189.1:n.*1371A>C
NM_001382262.1:c.1201-2331A>C (ENTPD5)	NP_001369191.1:n.1201-2331A>C
NM_182480.3:c.419T>G (COQ6)	NP_872286.2:p.Val140Gly