Canonical Allele Identifier: CA390380713

Gene: COQ6 ENTPD5

Linked Data

• dbSNP Id: rs2056823091
• gnomAD v3: 14-73962980-T-C
• gnomAD v4: 14-73962980-T-C
• MyVariant Identifiers: chr14:g.74429683T>C (hg19) ; chr14:g.73962980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73962980T>C , CM000676.2:g.73962980T>C	GRCh38
NC_000014.8:g.74429683T>C , CM000676.1:g.74429683T>C	GRCh37
NC_000014.7:g.73499436T>C	NCBI36
NG_032805.1:g.18047T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.1388T>C (COQ6) MANE Select	ENSP00000333946.2:p.Met463Thr
ENST00000238709.8:c.1385T>C (COQ6)	ENSP00000238709.5:p.Met462Thr
ENST00000334571.6:c.1388T>C (COQ6)	ENSP00000333946.2:p.Met463Thr
ENST00000334696.10:c.*3948A>G (ENTPD5)	ENSP00000335246.6:n.*3948A>G
ENST00000394026.8:c.1313T>C (COQ6)	ENSP00000377594.4:p.Met438Thr
ENST00000554341.6:c.*987T>C (COQ6)	ENSP00000450736.2:n.*987T>C
ENST00000554920.5:c.492T>C (COQ6)	ENSP00000451562.1:p.Tyr164=
ENST00000555829.5:c.225-1430A>G (ENTPD5)
ENST00000556299.1:n.599T>C (COQ6)
ENST00000556588.5:n.2988T>C (COQ6)
ENST00000557325.5:c.1201-3427A>G (ENTPD5)	ENSP00000451810.1:n.1201-3427A>G
ENST00000557780.5:n.354T>C (COQ6)
ENST00000629426.2:c.1163T>C (COQ6)	ENSP00000486650.1:p.Met388Thr
NM_182476.2:c.1388T>C (COQ6)	NP_872282.1:p.Met463Thr
NM_182480.2:c.1313T>C (COQ6)	NP_872286.2:p.Met438Thr
XM_005267716.1:c.1223T>C (COQ6)	XP_005267773.1:p.Met408Thr
XM_006720156.1:c.1061T>C (COQ6)	XP_006720219.1:p.Met354Thr
XM_006720325.2:c.1201-3427A>G (ENTPD5)	XP_006720388.1:n.1201-3427A>G
XM_011536807.1:c.1280T>C (COQ6)	XP_011535109.1:p.Met427Thr
XM_011536808.1:c.1163T>C (COQ6)	XP_011535110.1:p.Met388Thr
XM_011536809.1:c.1163T>C (COQ6)	XP_011535111.1:p.Met388Thr
XM_011536810.1:c.902T>C (COQ6)	XP_011535112.1:p.Met301Thr
XM_011536811.1:c.848T>C (COQ6)	XP_011535113.1:p.Met283Thr
NM_001321984.1:c.1201-1430A>G (ENTPD5)	NP_001308913.1:n.1201-1430A>G
NM_001330189.1:c.1201-3427A>G (ENTPD5)	NP_001317118.1:n.1201-3427A>G
XM_006720325.3:c.1201-3427A>G (ENTPD5)	XP_006720388.1:n.1201-3427A>G
XM_011536807.2:c.1280T>C (COQ6)	XP_011535109.1:p.Met427Thr
XM_011536808.2:c.1163T>C (COQ6)	XP_011535110.1:p.Met388Thr
XM_011536809.3:c.1163T>C (COQ6)	XP_011535111.1:p.Met388Thr
XM_011536810.3:c.902T>C (COQ6)	XP_011535112.1:p.Met301Thr
XM_017021351.2:c.848T>C (COQ6)	XP_016876840.1:p.Met283Thr
XM_017021352.2:c.782T>C (COQ6)	XP_016876841.1:p.Met261Thr
XM_017021814.1:c.1201-3427A>G (ENTPD5)	XP_016877303.1:n.1201-3427A>G
XM_017021817.1:c.1060-3427A>G (ENTPD5)	XP_016877306.1:n.1060-3427A>G
XM_024449619.1:c.782T>C (COQ6)	XP_024305387.1:p.Met261Thr
XR_001750342.1:n.1542T>C (COQ6)
NM_001249.4:c.*3948A>G (ENTPD5)	NP_001240.1:n.*3948A>G
NM_001321984.2:c.1201-1430A>G (ENTPD5)	NP_001308913.1:n.1201-1430A>G
NM_001321985.2:c.*3948A>G (ENTPD5)	NP_001308914.1:n.*3948A>G
NM_001321986.2:c.*3948A>G (ENTPD5)	NP_001308915.1:n.*3948A>G
NM_001321987.2:c.*3948A>G (ENTPD5)	NP_001308916.1:n.*3948A>G
NM_001321988.2:c.*3948A>G (ENTPD5)	NP_001308917.1:n.*3948A>G
NM_001330189.2:c.1201-3427A>G (ENTPD5)	NP_001317118.1:n.1201-3427A>G
NM_182476.3:c.1388T>C (COQ6) MANE Select	NP_872282.1:p.Met463Thr
NM_001382258.1:c.1200+7030A>G (ENTPD5)	NP_001369187.1:n.1200+7030A>G
NM_001382259.1:c.1201-3427A>G (ENTPD5)	NP_001369188.1:n.1201-3427A>G
NM_001382260.1:c.1201-3427A>G (ENTPD5)	NP_001369189.1:n.1201-3427A>G
NM_001382262.1:c.1200+7030A>G (ENTPD5)	NP_001369191.1:n.1200+7030A>G
NM_182480.3:c.1313T>C (COQ6)	NP_872286.2:p.Met438Thr