Canonical Allele Identifier: CA390374861

Gene: COQ6 ENTPD5

Linked Data

• COSMIC: COSM957703
• MyVariant Identifiers: chr14:g.74424864C>A (hg19) ; chr14:g.73958161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73958161C>A , CM000676.2:g.73958161C>A	GRCh38
NC_000014.8:g.74424864C>A , CM000676.1:g.74424864C>A	GRCh37
NC_000014.7:g.73494617C>A	NCBI36
NG_032805.1:g.13228C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.496C>A (COQ6) MANE Select	ENSP00000333946.2:p.Leu166Ile
ENST00000238709.8:c.493C>A (COQ6)	ENSP00000238709.5:p.Leu165Ile
ENST00000334571.6:c.496C>A (COQ6)	ENSP00000333946.2:p.Leu166Ile
ENST00000394026.8:c.421C>A (COQ6)	ENSP00000377594.4:p.Leu141Ile
ENST00000553462.6:n.344C>A (COQ6)
ENST00000554153.5:c.*101C>A (COQ6)	ENSP00000451685.1:n.*101C>A
ENST00000554320.1:c.271C>A (COQ6)	ENSP00000451123.1:p.Leu91Ile
ENST00000554341.6:c.*101C>A (COQ6)	ENSP00000450736.2:n.*101C>A
ENST00000554920.5:c.481+2233C>A (COQ6)	ENSP00000451562.1:n.481+2233C>A
ENST00000555511.5:n.614C>A (COQ6)
ENST00000556300.6:n.530C>A (COQ6)
ENST00000557205.6:n.460C>A (COQ6)
ENST00000557325.5:c.*1369G>T (ENTPD5)	ENSP00000451810.1:n.*1369G>T
ENST00000557584.5:c.*101C>A (COQ6)	ENSP00000450511.1:n.*101C>A
ENST00000629426.2:c.271C>A (COQ6)	ENSP00000486650.1:p.Leu91Ile
NM_182476.2:c.496C>A (COQ6)	NP_872282.1:p.Leu166Ile
NM_182480.2:c.421C>A (COQ6)	NP_872286.2:p.Leu141Ile
XM_005267716.1:c.331C>A (COQ6)	XP_005267773.1:p.Leu111Ile
XM_006720156.1:c.169C>A (COQ6)	XP_006720219.1:p.Leu57Ile
XM_011536807.1:c.496C>A (COQ6)	XP_011535109.1:p.Leu166Ile
XM_011536808.1:c.271C>A (COQ6)	XP_011535110.1:p.Leu91Ile
XM_011536809.1:c.271C>A (COQ6)	XP_011535111.1:p.Leu91Ile
XM_011536810.1:c.496C>A (COQ6)	XP_011535112.1:p.Leu166Ile
XM_011536811.1:c.73-810C>A (COQ6)	XP_011535113.1:n.73-810C>A
XR_943465.1:n.549C>A (COQ6)
XR_943466.1:n.549C>A (COQ6)
NM_001330189.1:c.*1369G>T (ENTPD5)	NP_001317118.1:n.*1369G>T
XM_011536807.2:c.496C>A (COQ6)	XP_011535109.1:p.Leu166Ile
XM_011536808.2:c.271C>A (COQ6)	XP_011535110.1:p.Leu91Ile
XM_011536809.3:c.271C>A (COQ6)	XP_011535111.1:p.Leu91Ile
XM_011536810.3:c.496C>A (COQ6)	XP_011535112.1:p.Leu166Ile
XM_017021351.2:c.73-810C>A (COQ6)	XP_016876840.1:n.73-810C>A
XM_017021352.2:c.-804C>A (COQ6)	XP_016876841.1:n.-804C>A
XM_024449619.1:c.-253C>A (COQ6)	XP_024305387.1:n.-253C>A
XR_001750342.1:n.460C>A (COQ6)
XR_943465.3:n.526C>A (COQ6)
XR_943466.3:n.526C>A (COQ6)
NM_001330189.2:c.*1369G>T (ENTPD5)	NP_001317118.1:n.*1369G>T
NM_182476.3:c.496C>A (COQ6) MANE Select	NP_872282.1:p.Leu166Ile
NM_001382258.1:c.1201-2574G>T (ENTPD5)	NP_001369187.1:n.1201-2574G>T
NM_001382259.1:c.*1369G>T (ENTPD5)	NP_001369188.1:n.*1369G>T
NM_001382260.1:c.*1369G>T (ENTPD5)	NP_001369189.1:n.*1369G>T
NM_001382262.1:c.1201-2333G>T (ENTPD5)	NP_001369191.1:n.1201-2333G>T
NM_182480.3:c.421C>A (COQ6)	NP_872286.2:p.Leu141Ile