Canonical Allele Identifier: CA381540887

Gene: NDUFV1

Linked Data

• MyVariant Identifiers: chr11:g.67378969A>C (hg19) ; chr11:g.67611498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67611498A>C , CM000673.2:g.67611498A>C	GRCh38
NC_000011.9:g.67378969A>C , CM000673.1:g.67378969A>C	GRCh37
NC_000011.8:g.67135545A>C	NCBI36
NG_013353.1:g.9647A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322776.11:c.1009A>C MANE Select	ENSP00000322450.6:p.Met337Leu
ENST00000647561.1:c.1009A>C	ENSP00000497587.1:p.Met337Leu
ENST00000322776.10:c.1009A>C	ENSP00000322450.6:p.Met337Leu
ENST00000415352.6:c.988A>C	ENSP00000395368.2:p.Met330Leu
ENST00000526169.1:n.656-24A>C
ENST00000526770.5:n.1292A>C
ENST00000527355.5:c.298A>C	ENSP00000432637.1:p.Met100Leu
ENST00000527923.1:n.351A>C
ENST00000529927.5:c.982A>C	ENSP00000436766.1:p.Met328Leu
ENST00000532303.5:c.706A>C	ENSP00000432015.1:p.Met236Leu
ENST00000533919.5:c.413A>C	ENSP00000435199.1:n.413A>C
NM_001166102.1:c.982A>C	NP_001159574.1:p.Met328Leu
NM_007103.3:c.1009A>C	NP_009034.2:p.Met337Leu
NM_001166102.2:c.982A>C	NP_001159574.1:p.Met328Leu
NM_007103.4:c.1009A>C MANE Select	NP_009034.2:p.Met337Leu