Canonical Allele Identifier: CA2300669240

Gene: ATP5F1A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087430G= , CM000680.2:g.46087430G=	GRCh38
NC_000018.9:g.43667396G= , CM000680.1:g.43667396G=	GRCh37
NC_000018.8:g.41921394G=	NCBI36
NG_041769.1:g.21804C=
NG_041769.2:g.26804C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.862C= MANE Select	ENSP00000381736.5:p.Leu288=
ENST00000282050.6:c.862C=	ENSP00000282050.2:p.Leu288=
ENST00000398752.10:c.862C=	ENSP00000381736.5:p.Leu288=
ENST00000586523.1:n.1267C=
ENST00000586592.5:c.*925C=	ENSP00000466275.3:n.*925C=
ENST00000589252.5:c.595C=	ENSP00000466975.1:p.Leu199=
ENST00000590156.5:c.*758C=	ENSP00000466309.1:n.*758C=
ENST00000590665.5:c.796C=	ENSP00000467037.1:p.Leu266=
ENST00000592364.5:c.227-366C=	ENSP00000468618.1:n.227-366C=
ENST00000593152.6:c.712C=	ENSP00000465477.2:p.Leu238=
NM_001001935.2:c.712C=	NP_001001935.1:p.Leu238=
NM_001001937.1:c.862C=	NP_001001937.1:p.Leu288=
NM_001257334.1:c.796C=	NP_001244263.1:p.Leu266=
NM_001257335.1:c.712C=	NP_001244264.1:p.Leu238=
NM_004046.5:c.862C=	NP_004037.1:p.Leu288=
XM_011526018.1:c.712C=	XP_011524320.1:p.Leu238=
XM_017025789.1:c.862C=	XP_016881278.1:p.Leu288=
NM_004046.6:c.862C= MANE Select	NP_004037.1:p.Leu288=
NM_001001935.3:c.712C=	NP_001001935.1:p.Leu238=
NM_001257334.2:c.796C=	NP_001244263.1:p.Leu266=
NM_001001937.2:c.862C=	NP_001001937.1:p.Leu288=
NM_001257335.2:c.712C=	NP_001244264.1:p.Leu238=