Canonical Allele Identifier: CA503984987
Gene: ATP5F1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.43667394C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46087428C>T , CM000680.2:g.46087428C>T GRCh38
NC_000018.9:g.43667394C>T , CM000680.1:g.43667394C>T GRCh37
NC_000018.8:g.41921392C>T NCBI36
NG_041769.1:g.21806G>A
NG_041769.2:g.26806G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000398752.11:c.864G>A MANE Select ENSP00000381736.5:p.Leu288=
ENST00000282050.6:c.864G>A ENSP00000282050.2:p.Leu288=
ENST00000398752.10:c.864G>A ENSP00000381736.5:p.Leu288=
ENST00000586523.1:n.1269G>A
ENST00000586592.5:c.*927G>A ENSP00000466275.3:n.*927G>A
ENST00000589252.5:c.597G>A ENSP00000466975.1:p.Leu199=
ENST00000590156.5:c.*760G>A ENSP00000466309.1:n.*760G>A
ENST00000590665.5:c.798G>A ENSP00000467037.1:p.Leu266=
ENST00000592364.5:c.227-364G>A ENSP00000468618.1:n.227-364G>A
ENST00000593152.6:c.714G>A ENSP00000465477.2:p.Leu238=
NM_001001935.2:c.714G>A NP_001001935.1:p.Leu238=
NM_001001937.1:c.864G>A NP_001001937.1:p.Leu288=
NM_001257334.1:c.798G>A NP_001244263.1:p.Leu266=
NM_001257335.1:c.714G>A NP_001244264.1:p.Leu238=
NM_004046.5:c.864G>A NP_004037.1:p.Leu288=
XM_011526018.1:c.714G>A XP_011524320.1:p.Leu238=
XM_017025789.1:c.864G>A XP_016881278.1:p.Leu288=
NM_004046.6:c.864G>A MANE Select NP_004037.1:p.Leu288=
NM_001001935.3:c.714G>A NP_001001935.1:p.Leu238=
NM_001257334.2:c.798G>A NP_001244263.1:p.Leu266=
NM_001001937.2:c.864G>A NP_001001937.1:p.Leu288=
NM_001257335.2:c.714G>A NP_001244264.1:p.Leu238=