Canonical Allele Identifier: CA390379613

Gene: COQ6 ENTPD5

Linked Data

• MyVariant Identifiers: chr14:g.74428578A>C (hg19) ; chr14:g.73961875A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73961875A>C , CM000676.2:g.73961875A>C	GRCh38
NC_000014.8:g.74428578A>C , CM000676.1:g.74428578A>C	GRCh37
NC_000014.7:g.73498331A>C	NCBI36
NG_032805.1:g.16942A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.1349A>C (COQ6) MANE Select	ENSP00000333946.2:p.Gln450Pro
ENST00000238709.8:c.1346A>C (COQ6)	ENSP00000238709.5:p.Gln449Pro
ENST00000334571.6:c.1349A>C (COQ6)	ENSP00000333946.2:p.Gln450Pro
ENST00000394026.8:c.1274A>C (COQ6)	ENSP00000377594.4:p.Gln425Pro
ENST00000554341.6:c.*954A>C (COQ6)	ENSP00000450736.2:n.*954A>C
ENST00000554920.5:c.482-1095A>C (COQ6)	ENSP00000451562.1:n.482-1095A>C
ENST00000555829.5:c.225-325T>G (ENTPD5)
ENST00000556299.1:n.560A>C (COQ6)
ENST00000556588.5:n.2949A>C (COQ6)
ENST00000557325.5:c.1201-2322T>G (ENTPD5)	ENSP00000451810.1:n.1201-2322T>G
ENST00000557780.5:n.343+305A>C (COQ6)
ENST00000629426.2:c.1124A>C (COQ6)	ENSP00000486650.1:p.Gln375Pro
NM_182476.2:c.1349A>C (COQ6)	NP_872282.1:p.Gln450Pro
NM_182480.2:c.1274A>C (COQ6)	NP_872286.2:p.Gln425Pro
XM_005267716.1:c.1184A>C (COQ6)	XP_005267773.1:p.Gln395Pro
XM_006720156.1:c.1022A>C (COQ6)	XP_006720219.1:p.Gln341Pro
XM_006720325.2:c.1201-2322T>G (ENTPD5)	XP_006720388.1:n.1201-2322T>G
XM_011536807.1:c.1241A>C (COQ6)	XP_011535109.1:p.Gln414Pro
XM_011536808.1:c.1124A>C (COQ6)	XP_011535110.1:p.Gln375Pro
XM_011536809.1:c.1124A>C (COQ6)	XP_011535111.1:p.Gln375Pro
XM_011536810.1:c.892-1095A>C (COQ6)	XP_011535112.1:n.892-1095A>C
XM_011536811.1:c.809A>C (COQ6)	XP_011535113.1:p.Gln270Pro
NM_001321984.1:c.1201-325T>G (ENTPD5)	NP_001308913.1:n.1201-325T>G
NM_001330189.1:c.1201-2322T>G (ENTPD5)	NP_001317118.1:n.1201-2322T>G
XM_006720325.3:c.1201-2322T>G (ENTPD5)	XP_006720388.1:n.1201-2322T>G
XM_011536807.2:c.1241A>C (COQ6)	XP_011535109.1:p.Gln414Pro
XM_011536808.2:c.1124A>C (COQ6)	XP_011535110.1:p.Gln375Pro
XM_011536809.3:c.1124A>C (COQ6)	XP_011535111.1:p.Gln375Pro
XM_011536810.3:c.892-1095A>C (COQ6)	XP_011535112.1:n.892-1095A>C
XM_017021351.2:c.809A>C (COQ6)	XP_016876840.1:p.Gln270Pro
XM_017021352.2:c.743A>C (COQ6)	XP_016876841.1:p.Gln248Pro
XM_017021814.1:c.1201-2322T>G (ENTPD5)	XP_016877303.1:n.1201-2322T>G
XM_017021817.1:c.1060-2322T>G (ENTPD5)	XP_016877306.1:n.1060-2322T>G
XM_024449619.1:c.743A>C (COQ6)	XP_024305387.1:p.Gln248Pro
XR_001750342.1:n.1503A>C (COQ6)
NM_001321984.2:c.1201-325T>G (ENTPD5)	NP_001308913.1:n.1201-325T>G
NM_001330189.2:c.1201-2322T>G (ENTPD5)	NP_001317118.1:n.1201-2322T>G
NM_182476.3:c.1349A>C (COQ6) MANE Select	NP_872282.1:p.Gln450Pro
NM_001382258.1:c.1201-6288T>G (ENTPD5)	NP_001369187.1:n.1201-6288T>G
NM_001382259.1:c.1201-2322T>G (ENTPD5)	NP_001369188.1:n.1201-2322T>G
NM_001382260.1:c.1201-2322T>G (ENTPD5)	NP_001369189.1:n.1201-2322T>G
NM_001382262.1:c.1201-6047T>G (ENTPD5)	NP_001369191.1:n.1201-6047T>G
NM_182480.3:c.1274A>C (COQ6)	NP_872286.2:p.Gln425Pro