Canonical Allele Identifier: CA402357393

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46089671C>T , CM000680.2:g.46089671C>T	GRCh38
NC_000018.9:g.43669637C>T , CM000680.1:g.43669637C>T	GRCh37
NC_000018.8:g.41923635C>T	NCBI36
NG_041769.1:g.19563G>A
NG_041769.2:g.24563G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.545G>A MANE Select	NP_004037.1:p.Arg182Gln
ENST00000398752.11:c.545G>A MANE Select	ENSP00000381736.5:p.Arg182Gln
NM_001001935.2:c.395G>A	NP_001001935.1:p.Arg132Gln
NM_001001935.3:c.395G>A	NP_001001935.1:p.Arg132Gln
NM_001001937.1:c.545G>A	NP_001001937.1:p.Arg182Gln
NM_001001937.2:c.545G>A	NP_001001937.1:p.Arg182Gln
NM_001257334.1:c.479G>A	NP_001244263.1:p.Arg160Gln
NM_001257334.2:c.479G>A	NP_001244263.1:p.Arg160Gln
NM_001257335.1:c.395G>A	NP_001244264.1:p.Arg132Gln
NM_001257335.2:c.395G>A	NP_001244264.1:p.Arg132Gln
NM_004046.5:c.545G>A	NP_004037.1:p.Arg182Gln
ENST00000282050.6:c.545G>A	ENSP00000282050.2:p.Arg182Gln
ENST00000398752.10:c.545G>A	ENSP00000381736.5:p.Arg182Gln
ENST00000586592.5:c.*608G>A	ENSP00000466275.3:n.*608G>A
ENST00000589252.5:c.278G>A	ENSP00000466975.1:p.Arg93Gln
ENST00000589611.1:n.753G>A
ENST00000589869.5:c.395G>A	ENSP00000465497.1:p.Arg132Gln
ENST00000590156.5:c.*441G>A	ENSP00000466309.1:n.*441G>A
ENST00000590324.5:c.395G>A	ENSP00000465259.1:p.Arg132Gln
ENST00000590406.5:c.545G>A	ENSP00000468458.1:p.Arg182Gln
ENST00000590665.5:c.479G>A	ENSP00000467037.1:p.Arg160Gln
ENST00000592364.5:c.226+2094G>A	ENSP00000468618.1:n.226+2094G>A
ENST00000593152.6:c.395G>A	ENSP00000465477.2:p.Arg132Gln
XM_011526018.1:c.395G>A	XP_011524320.1:p.Arg132Gln
XM_017025789.1:c.545G>A	XP_016881278.1:p.Arg182Gln