Canonical Allele Identifier: CA402355428

Gene: ATP5F1A

Linked Data

• MyVariant Identifiers: chr18:g.43667404A>C (hg19) ; chr18:g.46087438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087438A>C , CM000680.2:g.46087438A>C	GRCh38
NC_000018.9:g.43667404A>C , CM000680.1:g.43667404A>C	GRCh37
NC_000018.8:g.41921402A>C	NCBI36
NG_041769.1:g.21796T>G
NG_041769.2:g.26796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.854T>G MANE Select	ENSP00000381736.5:p.Leu285Arg
ENST00000282050.6:c.854T>G	ENSP00000282050.2:p.Leu285Arg
ENST00000398752.10:c.854T>G	ENSP00000381736.5:p.Leu285Arg
ENST00000586523.1:n.1259T>G
ENST00000586592.5:c.*917T>G	ENSP00000466275.3:n.*917T>G
ENST00000589252.5:c.587T>G	ENSP00000466975.1:p.Leu196Arg
ENST00000590156.5:c.*750T>G	ENSP00000466309.1:n.*750T>G
ENST00000590665.5:c.788T>G	ENSP00000467037.1:p.Leu263Arg
ENST00000592364.5:c.227-374T>G	ENSP00000468618.1:n.227-374T>G
ENST00000593152.6:c.704T>G	ENSP00000465477.2:p.Leu235Arg
NM_001001935.2:c.704T>G	NP_001001935.1:p.Leu235Arg
NM_001001937.1:c.854T>G	NP_001001937.1:p.Leu285Arg
NM_001257334.1:c.788T>G	NP_001244263.1:p.Leu263Arg
NM_001257335.1:c.704T>G	NP_001244264.1:p.Leu235Arg
NM_004046.5:c.854T>G	NP_004037.1:p.Leu285Arg
XM_011526018.1:c.704T>G	XP_011524320.1:p.Leu235Arg
XM_017025789.1:c.854T>G	XP_016881278.1:p.Leu285Arg
NM_004046.6:c.854T>G MANE Select	NP_004037.1:p.Leu285Arg
NM_001001935.3:c.704T>G	NP_001001935.1:p.Leu235Arg
NM_001257334.2:c.788T>G	NP_001244263.1:p.Leu263Arg
NM_001001937.2:c.854T>G	NP_001001937.1:p.Leu285Arg
NM_001257335.2:c.704T>G	NP_001244264.1:p.Leu235Arg