Canonical Allele Identifier: CA402363360

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46084507A>T , CM000680.2:g.46084507A>T	GRCh38
NC_000018.9:g.43664473A>T , CM000680.1:g.43664473A>T	GRCh37
NC_000018.8:g.41918471A>T	NCBI36
NG_041769.1:g.24727T>A
NG_041769.2:g.29727T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.1577T>A MANE Select	ENSP00000381736.5:p.Ile526Asn
ENST00000282050.6:c.1577T>A	ENSP00000282050.2:p.Ile526Asn
ENST00000398752.10:c.1577T>A	ENSP00000381736.5:p.Ile526Asn
ENST00000586523.1:n.4190T>A
ENST00000586592.5:c.*1640T>A	ENSP00000466275.3:n.*1640T>A
ENST00000587902.1:n.491T>A
ENST00000590156.5:c.*1473T>A	ENSP00000466309.1:n.*1473T>A
ENST00000590665.5:c.1511T>A	ENSP00000467037.1:p.Ile504Asn
ENST00000593152.6:c.1427T>A	ENSP00000465477.2:p.Ile476Asn
NM_001001935.2:c.1427T>A	NP_001001935.1:p.Ile476Asn
NM_001001937.1:c.1577T>A	NP_001001937.1:p.Ile526Asn
NM_001257334.1:c.1511T>A	NP_001244263.1:p.Ile504Asn
NM_001257335.1:c.1427T>A	NP_001244264.1:p.Ile476Asn
NM_004046.5:c.1577T>A	NP_004037.1:p.Ile526Asn
XM_011526018.1:c.1427T>A	XP_011524320.1:p.Ile476Asn
XM_017025789.1:c.1577T>A	XP_016881278.1:p.Ile526Asn
NM_004046.6:c.1577T>A MANE Select	NP_004037.1:p.Ile526Asn
NM_001001935.3:c.1427T>A	NP_001001935.1:p.Ile476Asn
NM_001257334.2:c.1511T>A	NP_001244263.1:p.Ile504Asn
NM_001001937.2:c.1577T>A	NP_001001937.1:p.Ile526Asn
NM_001257335.2:c.1427T>A	NP_001244264.1:p.Ile476Asn