Canonical Allele Identifier: CA390374847

Gene: COQ6 ENTPD5

Linked Data

• MyVariant Identifiers: chr14:g.74424855G>T (hg19) ; chr14:g.73958152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73958152G>T , CM000676.2:g.73958152G>T	GRCh38
NC_000014.8:g.74424855G>T , CM000676.1:g.74424855G>T	GRCh37
NC_000014.7:g.73494608G>T	NCBI36
NG_032805.1:g.13219G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.487G>T (COQ6) MANE Select	ENSP00000333946.2:p.Val163Leu
ENST00000238709.8:c.484G>T (COQ6)	ENSP00000238709.5:p.Val162Leu
ENST00000334571.6:c.487G>T (COQ6)	ENSP00000333946.2:p.Val163Leu
ENST00000394026.8:c.412G>T (COQ6)	ENSP00000377594.4:p.Val138Leu
ENST00000553462.6:n.335G>T (COQ6)
ENST00000554153.5:c.*92G>T (COQ6)	ENSP00000451685.1:n.*92G>T
ENST00000554320.1:c.262G>T (COQ6)	ENSP00000451123.1:p.Val88Leu
ENST00000554341.6:c.*92G>T (COQ6)	ENSP00000450736.2:n.*92G>T
ENST00000554920.5:c.481+2224G>T (COQ6)	ENSP00000451562.1:n.481+2224G>T
ENST00000555511.5:n.605G>T (COQ6)
ENST00000556300.6:n.521G>T (COQ6)
ENST00000557205.6:n.451G>T (COQ6)
ENST00000557325.5:c.*1378C>A (ENTPD5)	ENSP00000451810.1:n.*1378C>A
ENST00000557584.5:c.*92G>T (COQ6)	ENSP00000450511.1:n.*92G>T
ENST00000629426.2:c.262G>T (COQ6)	ENSP00000486650.1:p.Val88Leu
NM_182476.2:c.487G>T (COQ6)	NP_872282.1:p.Val163Leu
NM_182480.2:c.412G>T (COQ6)	NP_872286.2:p.Val138Leu
XM_005267716.1:c.322G>T (COQ6)	XP_005267773.1:p.Val108Leu
XM_006720156.1:c.160G>T (COQ6)	XP_006720219.1:p.Val54Leu
XM_011536807.1:c.487G>T (COQ6)	XP_011535109.1:p.Val163Leu
XM_011536808.1:c.262G>T (COQ6)	XP_011535110.1:p.Val88Leu
XM_011536809.1:c.262G>T (COQ6)	XP_011535111.1:p.Val88Leu
XM_011536810.1:c.487G>T (COQ6)	XP_011535112.1:p.Val163Leu
XM_011536811.1:c.73-819G>T (COQ6)	XP_011535113.1:n.73-819G>T
XR_943465.1:n.540G>T (COQ6)
XR_943466.1:n.540G>T (COQ6)
NM_001330189.1:c.*1378C>A (ENTPD5)	NP_001317118.1:n.*1378C>A
XM_011536807.2:c.487G>T (COQ6)	XP_011535109.1:p.Val163Leu
XM_011536808.2:c.262G>T (COQ6)	XP_011535110.1:p.Val88Leu
XM_011536809.3:c.262G>T (COQ6)	XP_011535111.1:p.Val88Leu
XM_011536810.3:c.487G>T (COQ6)	XP_011535112.1:p.Val163Leu
XM_017021351.2:c.73-819G>T (COQ6)	XP_016876840.1:n.73-819G>T
XM_017021352.2:c.-813G>T (COQ6)	XP_016876841.1:n.-813G>T
XM_024449619.1:c.-262G>T (COQ6)	XP_024305387.1:n.-262G>T
XR_001750342.1:n.451G>T (COQ6)
XR_943465.3:n.517G>T (COQ6)
XR_943466.3:n.517G>T (COQ6)
NM_001330189.2:c.*1378C>A (ENTPD5)	NP_001317118.1:n.*1378C>A
NM_182476.3:c.487G>T (COQ6) MANE Select	NP_872282.1:p.Val163Leu
NM_001382258.1:c.1201-2565C>A (ENTPD5)	NP_001369187.1:n.1201-2565C>A
NM_001382259.1:c.*1378C>A (ENTPD5)	NP_001369188.1:n.*1378C>A
NM_001382260.1:c.*1378C>A (ENTPD5)	NP_001369189.1:n.*1378C>A
NM_001382262.1:c.1201-2324C>A (ENTPD5)	NP_001369191.1:n.1201-2324C>A
NM_182480.3:c.412G>T (COQ6)	NP_872286.2:p.Val138Leu