Canonical Allele Identifier: CA1017178086

Gene: UQCC1

Linked Data

• dbSNP Id: rs2061096350
• gnomAD v3: 20-35319288-T-TGTCACCTC
• gnomAD v4: 20-35319288-T-TGTCACCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35319289_35319296dup , CM000682.2:g.35319289_35319296dup	GRCh38
NC_000020.10:g.33907092_33907099dup , CM000682.1:g.33907092_33907099dup	GRCh37
NC_000020.9:g.33370506_33370513dup	NCBI36
NG_021421.1:g.97847_97854dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000453855.6:c.268-4589_268-4582dup	ENSP00000390334.2:n.268-4589_268-4582dup
ENST00000374385.10:c.574-4531_574-4524dup MANE Select	ENSP00000363506.5:n.574-4531_574-4524dup
ENST00000349714.9:c.493-4531_493-4524dup	ENSP00000335364.6:n.493-4531_493-4524dup
ENST00000359226.6:c.334-4531_334-4524dup	ENSP00000352161.2:n.334-4531_334-4524dup
ENST00000374380.6:c.370-4531_370-4524dup	ENSP00000363501.2:n.370-4531_370-4524dup
ENST00000374384.6:c.574-12517_574-12510dup	ENSP00000363505.2:n.574-12517_574-12510du...
ENST00000374385.9:c.574-4531_574-4524dup	ENSP00000363506.5:n.574-4531_574-4524dup
ENST00000374394.7:c.*555-4531_*555-4524dup	ENSP00000363515.3:n.*555-4531_*555-4524du...
ENST00000397556.7:c.355-4531_355-4524dup	ENSP00000380688.4:n.355-4531_355-4524dup
ENST00000424405.5:c.478-4531_478-4524dup	ENSP00000399713.1:n.478-4531_478-4524dup
ENST00000438533.5:c.616-4531_616-4524dup	ENSP00000398531.1:n.616-4531_616-4524dup
ENST00000443429.5:c.*126-4531_*126-4524dup	ENSP00000416246.1:n.*126-4531_*126-4524du...
ENST00000453855.5:c.265-4589_265-4582dup	ENSP00000390334.1:n.265-4589_265-4582dup
ENST00000457259.5:c.292-4531_292-4524dup
ENST00000497717.5:n.64-4531_64-4524dup
NM_001184977.1:c.370-4531_370-4524dup	NP_001171906.1:n.370-4531_370-4524dup
NM_018244.4:c.574-4531_574-4524dup	NP_060714.3:n.574-4531_574-4524dup
NM_199487.2:c.574-12517_574-12510dup	NP_955781.2:n.574-12517_574-12510dup
XM_011528877.1:c.616-4531_616-4524dup	XP_011527179.1:n.616-4531_616-4524dup
XM_011528878.1:c.478-4531_478-4524dup	XP_011527180.1:n.478-4531_478-4524dup
XM_011528879.1:c.436-4531_436-4524dup	XP_011527181.1:n.436-4531_436-4524dup
XM_011528880.1:c.436-4531_436-4524dup	XP_011527182.1:n.436-4531_436-4524dup
XM_011528881.1:c.277-4531_277-4524dup	XP_011527183.1:n.277-4531_277-4524dup
XM_011528882.1:c.172-4531_172-4524dup	XP_011527184.1:n.172-4531_172-4524dup
XM_011528883.1:c.172-4531_172-4524dup	XP_011527185.1:n.172-4531_172-4524dup
XM_011528884.1:c.172-4531_172-4524dup	XP_011527186.1:n.172-4531_172-4524dup
XM_011528878.2:c.478-4531_478-4524dup	XP_011527180.1:n.478-4531_478-4524dup
XM_011528880.2:c.436-4531_436-4524dup	XP_011527182.1:n.436-4531_436-4524dup
XM_011528881.3:c.277-4531_277-4524dup	XP_011527183.1:n.277-4531_277-4524dup
XM_011528882.2:c.172-4531_172-4524dup	XP_011527184.1:n.172-4531_172-4524dup
XM_011528883.2:c.172-4531_172-4524dup	XP_011527185.1:n.172-4531_172-4524dup
XM_011528884.2:c.172-4531_172-4524dup	XP_011527186.1:n.172-4531_172-4524dup
NM_018244.5:c.574-4531_574-4524dup MANE Select	NP_060714.3:n.574-4531_574-4524dup
NM_001184977.2:c.370-4531_370-4524dup	NP_001171906.1:n.370-4531_370-4524dup
NM_199487.3:c.574-12517_574-12510dup	NP_955781.2:n.574-12517_574-12510dup