Canonical Allele Identifier: CA402355142

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087352-A-T
• MyVariant Identifiers: chr18:g.43667318A>T (hg19) ; chr18:g.46087352A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087352A>T , CM000680.2:g.46087352A>T	GRCh38
NC_000018.9:g.43667318A>T , CM000680.1:g.43667318A>T	GRCh37
NC_000018.8:g.41921316A>T	NCBI36
NG_041769.1:g.21882T>A
NG_041769.2:g.26882T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.940T>A MANE Select	ENSP00000381736.5:p.Leu314Ile
ENST00000282050.6:c.940T>A	ENSP00000282050.2:p.Leu314Ile
ENST00000398752.10:c.940T>A	ENSP00000381736.5:p.Leu314Ile
ENST00000586523.1:n.1345T>A
ENST00000586592.5:c.*1003T>A	ENSP00000466275.3:n.*1003T>A
ENST00000590156.5:c.*836T>A	ENSP00000466309.1:n.*836T>A
ENST00000590665.5:c.874T>A	ENSP00000467037.1:p.Leu292Ile
ENST00000592364.5:c.227-288T>A	ENSP00000468618.1:n.227-288T>A
ENST00000593152.6:c.790T>A	ENSP00000465477.2:p.Leu264Ile
NM_001001935.2:c.790T>A	NP_001001935.1:p.Leu264Ile
NM_001001937.1:c.940T>A	NP_001001937.1:p.Leu314Ile
NM_001257334.1:c.874T>A	NP_001244263.1:p.Leu292Ile
NM_001257335.1:c.790T>A	NP_001244264.1:p.Leu264Ile
NM_004046.5:c.940T>A	NP_004037.1:p.Leu314Ile
XM_011526018.1:c.790T>A	XP_011524320.1:p.Leu264Ile
XM_017025789.1:c.940T>A	XP_016881278.1:p.Leu314Ile
NM_004046.6:c.940T>A MANE Select	NP_004037.1:p.Leu314Ile
NM_001001935.3:c.790T>A	NP_001001935.1:p.Leu264Ile
NM_001257334.2:c.874T>A	NP_001244263.1:p.Leu292Ile
NM_001001937.2:c.940T>A	NP_001001937.1:p.Leu314Ile
NM_001257335.2:c.790T>A	NP_001244264.1:p.Leu264Ile