Canonical Allele Identifier: CA345052451

Gene: COQ8A

Linked Data

• MyVariant Identifiers: chr1:g.227170601C>A (hg19) ; chr1:g.226982900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982900C>A , CM000663.2:g.226982900C>A	GRCh38
NC_000001.10:g.227170601C>A , CM000663.1:g.227170601C>A	GRCh37
NC_000001.9:g.225237224C>A	NCBI36
NG_012825.1:g.47664C>A
NG_012825.2:g.90365C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.946C>A MANE Select	ENSP00000355739.3:p.Leu316Ile
ENST00000366779.6:c.*5673C>A	ENSP00000355741.2:n.*5673C>A
ENST00000676884.1:c.*5795C>A	ENSP00000503200.1:n.*5795C>A
ENST00000366777.3:c.946C>A	ENSP00000355739.3:p.Leu316Ile
ENST00000366778.5:c.790C>A	ENSP00000355740.1:p.Leu264Ile
ENST00000366779.5:c.946C>A	ENSP00000355741.1:p.Leu316Ile
ENST00000478406.5:n.925C>A
ENST00000485462.5:n.336C>A
NM_020247.4:c.946C>A	NP_064632.2:p.Leu316Ile
XM_005273201.1:c.946C>A	XP_005273258.1:p.Leu316Ile
XM_011544238.1:c.946C>A	XP_011542540.1:p.Leu316Ile
XM_011544239.1:c.946C>A	XP_011542541.1:p.Leu316Ile
XM_011544240.1:c.946C>A	XP_011542542.1:p.Leu316Ile
XM_011544241.1:c.946C>A	XP_011542543.1:p.Leu316Ile
XM_011544239.2:c.946C>A	XP_011542541.1:p.Leu316Ile
XM_011544241.2:c.946C>A	XP_011542543.1:p.Leu316Ile
XM_017001852.1:c.946C>A	XP_016857341.1:p.Leu316Ile
XM_024448517.1:c.946C>A	XP_024304285.1:p.Leu316Ile
XM_024448518.1:c.946C>A	XP_024304286.1:p.Leu316Ile
NM_020247.5:c.946C>A MANE Select	NP_064632.2:p.Leu316Ile