Canonical Allele Identifier: CA408737796

Gene: UQCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35384111C>A , CM000682.2:g.35384111C>A	GRCh38
NC_000020.10:g.33971914C>A , CM000682.1:g.33971914C>A	GRCh37
NC_000020.9:g.33435328C>A	NCBI36
NG_021421.1:g.33032G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453855.6:c.152G>T	ENSP00000390334.2:p.Arg51Leu
ENST00000374385.10:c.152G>T MANE Select	ENSP00000363506.5:p.Arg51Leu
ENST00000349714.9:c.152G>T	ENSP00000335364.6:p.Arg51Leu
ENST00000359226.6:c.152G>T	ENSP00000352161.2:p.Arg51Leu
ENST00000374380.6:c.130-9855G>T	ENSP00000363501.2:n.130-9855G>T
ENST00000374384.6:c.152G>T	ENSP00000363505.2:p.Arg51Leu
ENST00000374385.9:c.152G>T	ENSP00000363506.5:p.Arg51Leu
ENST00000374394.7:c.*206G>T	ENSP00000363515.3:n.*206G>T
ENST00000397553.6:c.*88G>T	ENSP00000380685.2:n.*88G>T
ENST00000397554.5:c.152G>T	ENSP00000380686.1:p.Arg51Leu
ENST00000397556.7:c.14G>T	ENSP00000380688.4:p.Arg5Leu
ENST00000424405.5:c.130-2086G>T	ENSP00000399713.1:n.130-2086G>T
ENST00000438533.5:c.194G>T	ENSP00000398531.1:p.Arg65Leu
ENST00000443429.5:c.152G>T	ENSP00000416246.1:p.Arg51Leu
ENST00000453855.5:c.149G>T	ENSP00000390334.1:p.Arg50Leu
ENST00000457259.5:c.124+9981G>T
ENST00000491040.5:c.*108-2086G>T	ENSP00000420584.1:n.*108-2086G>T
ENST00000491125.5:n.165G>T
ENST00000495752.1:n.229G>T
NM_001184977.1:c.130-9855G>T	NP_001171906.1:n.130-9855G>T
NM_018244.4:c.152G>T	NP_060714.3:p.Arg51Leu
NM_199487.2:c.152G>T	NP_955781.2:p.Arg51Leu
XM_011528877.1:c.194G>T	XP_011527179.1:p.Arg65Leu
XM_011528878.1:c.130-2086G>T	XP_011527180.1:n.130-2086G>T
XM_011528879.1:c.14G>T	XP_011527181.1:p.Arg5Leu
XM_011528880.1:c.14G>T	XP_011527182.1:p.Arg5Leu
XM_011528881.1:c.-72-2086G>T	XP_011527183.1:n.-72-2086G>T
XM_011528882.1:c.-178G>T	XP_011527184.1:n.-178G>T
XM_011528883.1:c.-104-2086G>T	XP_011527185.1:n.-104-2086G>T
XM_011528884.1:c.-104-2086G>T	XP_011527186.1:n.-104-2086G>T
XM_011528878.2:c.130-2086G>T	XP_011527180.1:n.130-2086G>T
XM_011528880.2:c.14G>T	XP_011527182.1:p.Arg5Leu
XM_011528881.3:c.-72-2086G>T	XP_011527183.1:n.-72-2086G>T
XM_011528882.2:c.-178G>T	XP_011527184.1:n.-178G>T
XM_011528883.2:c.-104-2086G>T	XP_011527185.1:n.-104-2086G>T
XM_011528884.2:c.-104-2086G>T	XP_011527186.1:n.-104-2086G>T
NM_018244.5:c.152G>T MANE Select	NP_060714.3:p.Arg51Leu
NM_001184977.2:c.130-9855G>T	NP_001171906.1:n.130-9855G>T
NM_199487.3:c.152G>T	NP_955781.2:p.Arg51Leu