Canonical Allele Identifier: CA381536562

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67377883T>G (hg19) ; chr11:g.67610412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610412T>G , CM000673.2:g.67610412T>G	GRCh38
NC_000011.9:g.67377883T>G , CM000673.1:g.67377883T>G	GRCh37
NC_000011.8:g.67134459T>G	NCBI36
NG_013353.1:g.8561T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.542T>G MANE Select	ENSP00000322450.6:p.Leu181Arg
ENST00000647561.1:c.542T>G	ENSP00000497587.1:p.Leu181Arg
ENST00000322776.10:c.542T>G	ENSP00000322450.6:p.Leu181Arg
ENST00000415352.6:c.521T>G	ENSP00000395368.2:p.Leu174Arg
ENST00000526169.1:n.284T>G
ENST00000526770.5:n.401T>G
ENST00000529867.5:c.506T>G	ENSP00000434438.1:p.Leu169Arg
ENST00000529927.5:c.515T>G	ENSP00000436766.1:p.Leu172Arg
ENST00000530638.1:c.425T>G	ENSP00000436936.1:p.Leu142Arg
ENST00000532244.5:c.239T>G	ENSP00000435202.1:p.Leu80Arg
ENST00000532303.5:c.239T>G	ENSP00000432015.1:p.Leu80Arg
ENST00000532343.5:c.239T>G	ENSP00000431751.1:p.Leu80Arg
ENST00000533075.5:c.521T>G	ENSP00000437267.1:p.Leu174Arg
ENST00000533919.5:c.20T>G	ENSP00000435199.1:p.Leu7Arg
NM_001166102.1:c.515T>G	NP_001159574.1:p.Leu172Arg
NM_007103.3:c.542T>G	NP_009034.2:p.Leu181Arg
NM_001166102.2:c.515T>G	NP_001159574.1:p.Leu172Arg
NM_007103.4:c.542T>G MANE Select	NP_009034.2:p.Leu181Arg