Canonical Allele Identifier: CA8950935

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46095116A>C , CM000680.2:g.46095116A>C	GRCh38
NC_000018.9:g.43675082A>C , CM000680.1:g.43675082A>C	GRCh37
NC_000018.8:g.41929080A>C	NCBI36
NG_041769.1:g.14118T>G
NG_041769.2:g.19118T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004046.6:c.76T>G MANE Select	NP_004037.1:p.Leu26Val
ENST00000398752.11:c.76T>G MANE Select	ENSP00000381736.5:p.Leu26Val
NM_001001935.2:c.-148T>G	NP_001001935.1:n.-148T>G
NM_001001935.3:c.-148T>G	NP_001001935.1:n.-148T>G
NM_001001937.1:c.76T>G	NP_001001937.1:p.Leu26Val
NM_001001937.2:c.76T>G	NP_001001937.1:p.Leu26Val
NM_001257334.1:c.76T>G	NP_001244263.1:p.Leu26Val
NM_001257334.2:c.76T>G	NP_001244263.1:p.Leu26Val
NM_001257335.1:c.-75T>G	NP_001244264.1:n.-75T>G
NM_001257335.2:c.-75T>G	NP_001244264.1:n.-75T>G
NM_004046.5:c.76T>G	NP_004037.1:p.Leu26Val
ENST00000282050.6:c.76T>G	ENSP00000282050.2:p.Leu26Val
ENST00000398752.10:c.76T>G	ENSP00000381736.5:p.Leu26Val
ENST00000585650.1:c.54T>G	ENSP00000467983.1:p.Leu18=
ENST00000586592.5:c.*139T>G	ENSP00000466275.3:n.*139T>G
ENST00000588390.1:n.140T>G
ENST00000589252.5:c.76T>G	ENSP00000466975.1:p.Leu26Val
ENST00000589869.5:c.-75T>G	ENSP00000465497.1:n.-75T>G
ENST00000590156.5:c.76T>G	ENSP00000466309.1:p.Leu26Val
ENST00000590324.5:c.-261T>G	ENSP00000465259.1:n.-261T>G
ENST00000590406.5:c.76T>G	ENSP00000468458.1:p.Leu26Val
ENST00000590448.5:n.133T>G
ENST00000590665.5:c.76T>G	ENSP00000467037.1:p.Leu26Val
ENST00000591267.1:n.141T>G
ENST00000591981.5:c.92T>G	ENSP00000465805.2:p.Phe31Cys
ENST00000592364.5:c.76T>G	ENSP00000468618.1:p.Leu26Val
ENST00000592989.1:c.-75T>G	ENSP00000467830.1:n.-75T>G
ENST00000593152.6:c.-75T>G	ENSP00000465477.2:n.-75T>G
XM_011526018.1:c.-75T>G	XP_011524320.1:n.-75T>G
XM_017025789.1:c.76T>G	XP_016881278.1:p.Leu26Val