Canonical Allele Identifier: CA381535437
Community Standard Title: NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly)
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67609505A>G , CM000673.2:g.67609505A>G GRCh38
NC_000011.9:g.67376976A>G , CM000673.1:g.67376976A>G GRCh37
NC_000011.8:g.67133552A>G NCBI36
NG_013353.1:g.7654A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007103.4:c.380A>G MANE Select NP_009034.2:p.Asp127Gly
ENST00000322776.11:c.380A>G MANE Select ENSP00000322450.6:p.Asp127Gly
NM_001166102.1:c.353A>G NP_001159574.1:p.Asp118Gly
NM_001166102.2:c.353A>G NP_001159574.1:p.Asp118Gly
NM_007103.3:c.380A>G NP_009034.2:p.Asp127Gly
ENST00000322776.10:c.380A>G ENSP00000322450.6:p.Asp127Gly
ENST00000415352.6:c.359A>G ENSP00000395368.2:p.Asp120Gly
ENST00000524838.5:n.437A>G
ENST00000525086.5:n.453A>G
ENST00000526169.1:n.122A>G
ENST00000526770.5:n.239A>G
ENST00000528314.1:c.77A>G ENSP00000434581.1:p.Asp26Gly
ENST00000528377.1:n.551A>G
ENST00000529867.5:c.344A>G ENSP00000434438.1:p.Asp115Gly
ENST00000529927.5:c.353A>G ENSP00000436766.1:p.Asp118Gly
ENST00000530014.5:n.675A>G
ENST00000530103.5:c.*274A>G ENSP00000434575.1:n.*274A>G
ENST00000530638.1:c.263A>G ENSP00000436936.1:p.Asp88Gly
ENST00000532244.5:c.77A>G ENSP00000435202.1:p.Asp26Gly
ENST00000532303.5:c.77A>G ENSP00000432015.1:p.Asp26Gly
ENST00000532343.5:c.77A>G ENSP00000431751.1:p.Asp26Gly
ENST00000533075.5:c.359A>G ENSP00000437267.1:p.Asp120Gly
ENST00000534139.5:n.496A>G
ENST00000647561.1:c.380A>G ENSP00000497587.1:p.Asp127Gly