Canonical Allele Identifier: CA390374848

Gene: COQ6 ENTPD5

Linked Data

• MyVariant Identifiers: chr14:g.74424856T>C (hg19) ; chr14:g.73958153T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73958153T>C , CM000676.2:g.73958153T>C	GRCh38
NC_000014.8:g.74424856T>C , CM000676.1:g.74424856T>C	GRCh37
NC_000014.7:g.73494609T>C	NCBI36
NG_032805.1:g.13220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.488T>C (COQ6) MANE Select	ENSP00000333946.2:p.Val163Ala
ENST00000238709.8:c.485T>C (COQ6)	ENSP00000238709.5:p.Val162Ala
ENST00000334571.6:c.488T>C (COQ6)	ENSP00000333946.2:p.Val163Ala
ENST00000394026.8:c.413T>C (COQ6)	ENSP00000377594.4:p.Val138Ala
ENST00000553462.6:n.336T>C (COQ6)
ENST00000554153.5:c.*93T>C (COQ6)	ENSP00000451685.1:n.*93T>C
ENST00000554320.1:c.263T>C (COQ6)	ENSP00000451123.1:p.Val88Ala
ENST00000554341.6:c.*93T>C (COQ6)	ENSP00000450736.2:n.*93T>C
ENST00000554920.5:c.481+2225T>C (COQ6)	ENSP00000451562.1:n.481+2225T>C
ENST00000555511.5:n.606T>C (COQ6)
ENST00000556300.6:n.522T>C (COQ6)
ENST00000557205.6:n.452T>C (COQ6)
ENST00000557325.5:c.*1377A>G (ENTPD5)	ENSP00000451810.1:n.*1377A>G
ENST00000557584.5:c.*93T>C (COQ6)	ENSP00000450511.1:n.*93T>C
ENST00000629426.2:c.263T>C (COQ6)	ENSP00000486650.1:p.Val88Ala
NM_182476.2:c.488T>C (COQ6)	NP_872282.1:p.Val163Ala
NM_182480.2:c.413T>C (COQ6)	NP_872286.2:p.Val138Ala
XM_005267716.1:c.323T>C (COQ6)	XP_005267773.1:p.Val108Ala
XM_006720156.1:c.161T>C (COQ6)	XP_006720219.1:p.Val54Ala
XM_011536807.1:c.488T>C (COQ6)	XP_011535109.1:p.Val163Ala
XM_011536808.1:c.263T>C (COQ6)	XP_011535110.1:p.Val88Ala
XM_011536809.1:c.263T>C (COQ6)	XP_011535111.1:p.Val88Ala
XM_011536810.1:c.488T>C (COQ6)	XP_011535112.1:p.Val163Ala
XM_011536811.1:c.73-818T>C (COQ6)	XP_011535113.1:n.73-818T>C
XR_943465.1:n.541T>C (COQ6)
XR_943466.1:n.541T>C (COQ6)
NM_001330189.1:c.*1377A>G (ENTPD5)	NP_001317118.1:n.*1377A>G
XM_011536807.2:c.488T>C (COQ6)	XP_011535109.1:p.Val163Ala
XM_011536808.2:c.263T>C (COQ6)	XP_011535110.1:p.Val88Ala
XM_011536809.3:c.263T>C (COQ6)	XP_011535111.1:p.Val88Ala
XM_011536810.3:c.488T>C (COQ6)	XP_011535112.1:p.Val163Ala
XM_017021351.2:c.73-818T>C (COQ6)	XP_016876840.1:n.73-818T>C
XM_017021352.2:c.-812T>C (COQ6)	XP_016876841.1:n.-812T>C
XM_024449619.1:c.-261T>C (COQ6)	XP_024305387.1:n.-261T>C
XR_001750342.1:n.452T>C (COQ6)
XR_943465.3:n.518T>C (COQ6)
XR_943466.3:n.518T>C (COQ6)
NM_001330189.2:c.*1377A>G (ENTPD5)	NP_001317118.1:n.*1377A>G
NM_182476.3:c.488T>C (COQ6) MANE Select	NP_872282.1:p.Val163Ala
NM_001382258.1:c.1201-2566A>G (ENTPD5)	NP_001369187.1:n.1201-2566A>G
NM_001382259.1:c.*1377A>G (ENTPD5)	NP_001369188.1:n.*1377A>G
NM_001382260.1:c.*1377A>G (ENTPD5)	NP_001369189.1:n.*1377A>G
NM_001382262.1:c.1201-2325A>G (ENTPD5)	NP_001369191.1:n.1201-2325A>G
NM_182480.3:c.413T>C (COQ6)	NP_872286.2:p.Val138Ala