Canonical Allele Identifier: CA6143168
Community Standard Title: NM_007103.4(NDUFV1):c.432G>T (p.Val144=)
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67609557G>T , CM000673.2:g.67609557G>T GRCh38
NC_000011.9:g.67377028G>T , CM000673.1:g.67377028G>T GRCh37
NC_000011.8:g.67133604G>T NCBI36
NG_013353.1:g.7706G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007103.4:c.432G>T MANE Select NP_009034.2:p.Val144=
ENST00000322776.11:c.432G>T MANE Select ENSP00000322450.6:p.Val144=
NM_001166102.1:c.405G>T NP_001159574.1:p.Val135=
NM_001166102.2:c.405G>T NP_001159574.1:p.Val135=
NM_007103.3:c.432G>T NP_009034.2:p.Val144=
ENST00000322776.10:c.432G>T ENSP00000322450.6:p.Val144=
ENST00000415352.6:c.411G>T ENSP00000395368.2:p.Val137=
ENST00000524838.5:n.489G>T
ENST00000525086.5:n.505G>T
ENST00000526169.1:n.174G>T
ENST00000526770.5:n.291G>T
ENST00000528314.1:c.129G>T ENSP00000434581.1:p.Val43=
ENST00000528377.1:n.603G>T
ENST00000529867.5:c.396G>T ENSP00000434438.1:p.Val132=
ENST00000529927.5:c.405G>T ENSP00000436766.1:p.Val135=
ENST00000530014.5:n.727G>T
ENST00000530103.5:c.*326G>T ENSP00000434575.1:n.*326G>T
ENST00000530638.1:c.315G>T ENSP00000436936.1:p.Val105=
ENST00000532244.5:c.129G>T ENSP00000435202.1:p.Val43=
ENST00000532303.5:c.129G>T ENSP00000432015.1:p.Val43=
ENST00000532343.5:c.129G>T ENSP00000431751.1:p.Val43=
ENST00000533075.5:c.411G>T ENSP00000437267.1:p.Val137=
ENST00000534139.5:n.548G>T
ENST00000647561.1:c.432G>T ENSP00000497587.1:p.Val144=