Canonical Allele Identifier: CA390380685

Gene: COQ6 ENTPD5

Linked Data

• MyVariant Identifiers: chr14:g.74429678G>A (hg19) ; chr14:g.73962975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73962975G>A , CM000676.2:g.73962975G>A	GRCh38
NC_000014.8:g.74429678G>A , CM000676.1:g.74429678G>A	GRCh37
NC_000014.7:g.73499431G>A	NCBI36
NG_032805.1:g.18042G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.1383G>A (COQ6) MANE Select	ENSP00000333946.2:p.Gln461=
ENST00000238709.8:c.1380G>A (COQ6)	ENSP00000238709.5:p.Gln460=
ENST00000334571.6:c.1383G>A (COQ6)	ENSP00000333946.2:p.Gln461=
ENST00000334696.10:c.*3953C>T (ENTPD5)	ENSP00000335246.6:n.*3953C>T
ENST00000394026.8:c.1308G>A (COQ6)	ENSP00000377594.4:p.Gln436=
ENST00000554341.6:c.*983-1G>A (COQ6)	ENSP00000450736.2:n.*983-1G>A
ENST00000554920.5:c.487G>A (COQ6)	ENSP00000451562.1:p.Asp163Asn
ENST00000555829.5:c.225-1425C>T (ENTPD5)
ENST00000556299.1:n.594G>A (COQ6)
ENST00000556588.5:n.2983G>A (COQ6)
ENST00000557325.5:c.1201-3422C>T (ENTPD5)	ENSP00000451810.1:n.1201-3422C>T
ENST00000557780.5:n.349G>A (COQ6)
ENST00000629426.2:c.1158G>A (COQ6)	ENSP00000486650.1:p.Gln386=
NM_182476.2:c.1383G>A (COQ6)	NP_872282.1:p.Gln461=
NM_182480.2:c.1308G>A (COQ6)	NP_872286.2:p.Gln436=
XM_005267716.1:c.1218G>A (COQ6)	XP_005267773.1:p.Gln406=
XM_006720156.1:c.1056G>A (COQ6)	XP_006720219.1:p.Gln352=
XM_006720325.2:c.1201-3422C>T (ENTPD5)	XP_006720388.1:n.1201-3422C>T
XM_011536807.1:c.1275G>A (COQ6)	XP_011535109.1:p.Gln425=
XM_011536808.1:c.1158G>A (COQ6)	XP_011535110.1:p.Gln386=
XM_011536809.1:c.1158G>A (COQ6)	XP_011535111.1:p.Gln386=
XM_011536810.1:c.897G>A (COQ6)	XP_011535112.1:p.Gln299=
XM_011536811.1:c.843G>A (COQ6)	XP_011535113.1:p.Gln281=
NM_001321984.1:c.1201-1425C>T (ENTPD5)	NP_001308913.1:n.1201-1425C>T
NM_001330189.1:c.1201-3422C>T (ENTPD5)	NP_001317118.1:n.1201-3422C>T
XM_006720325.3:c.1201-3422C>T (ENTPD5)	XP_006720388.1:n.1201-3422C>T
XM_011536807.2:c.1275G>A (COQ6)	XP_011535109.1:p.Gln425=
XM_011536808.2:c.1158G>A (COQ6)	XP_011535110.1:p.Gln386=
XM_011536809.3:c.1158G>A (COQ6)	XP_011535111.1:p.Gln386=
XM_011536810.3:c.897G>A (COQ6)	XP_011535112.1:p.Gln299=
XM_017021351.2:c.843G>A (COQ6)	XP_016876840.1:p.Gln281=
XM_017021352.2:c.777G>A (COQ6)	XP_016876841.1:p.Gln259=
XM_017021814.1:c.1201-3422C>T (ENTPD5)	XP_016877303.1:n.1201-3422C>T
XM_017021817.1:c.1060-3422C>T (ENTPD5)	XP_016877306.1:n.1060-3422C>T
XM_024449619.1:c.777G>A (COQ6)	XP_024305387.1:p.Gln259=
XR_001750342.1:n.1537G>A (COQ6)
NM_001249.4:c.*3953C>T (ENTPD5)	NP_001240.1:n.*3953C>T
NM_001321984.2:c.1201-1425C>T (ENTPD5)	NP_001308913.1:n.1201-1425C>T
NM_001321985.2:c.*3953C>T (ENTPD5)	NP_001308914.1:n.*3953C>T
NM_001321986.2:c.*3953C>T (ENTPD5)	NP_001308915.1:n.*3953C>T
NM_001321987.2:c.*3953C>T (ENTPD5)	NP_001308916.1:n.*3953C>T
NM_001321988.2:c.*3953C>T (ENTPD5)	NP_001308917.1:n.*3953C>T
NM_001330189.2:c.1201-3422C>T (ENTPD5)	NP_001317118.1:n.1201-3422C>T
NM_182476.3:c.1383G>A (COQ6) MANE Select	NP_872282.1:p.Gln461=
NM_001382258.1:c.1200+7035C>T (ENTPD5)	NP_001369187.1:n.1200+7035C>T
NM_001382259.1:c.1201-3422C>T (ENTPD5)	NP_001369188.1:n.1201-3422C>T
NM_001382260.1:c.1201-3422C>T (ENTPD5)	NP_001369189.1:n.1201-3422C>T
NM_001382262.1:c.1200+7035C>T (ENTPD5)	NP_001369191.1:n.1200+7035C>T
NM_182480.3:c.1308G>A (COQ6)	NP_872286.2:p.Gln436=