Canonical Allele Identifier: CA402355121

Gene: ATP5F1A

Linked Data

• MyVariant Identifiers: chr18:g.43667309G>T (hg19) ; chr18:g.46087343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087343G>T , CM000680.2:g.46087343G>T	GRCh38
NC_000018.9:g.43667309G>T , CM000680.1:g.43667309G>T	GRCh37
NC_000018.8:g.41921307G>T	NCBI36
NG_041769.1:g.21891C>A
NG_041769.2:g.26891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.949C>A MANE Select	ENSP00000381736.5:p.Gln317Lys
ENST00000282050.6:c.949C>A	ENSP00000282050.2:p.Gln317Lys
ENST00000398752.10:c.949C>A	ENSP00000381736.5:p.Gln317Lys
ENST00000586523.1:n.1354C>A
ENST00000586592.5:c.*1012C>A	ENSP00000466275.3:n.*1012C>A
ENST00000590156.5:c.*845C>A	ENSP00000466309.1:n.*845C>A
ENST00000590665.5:c.883C>A	ENSP00000467037.1:p.Gln295Lys
ENST00000592364.5:c.227-279C>A	ENSP00000468618.1:n.227-279C>A
ENST00000593152.6:c.799C>A	ENSP00000465477.2:p.Gln267Lys
NM_001001935.2:c.799C>A	NP_001001935.1:p.Gln267Lys
NM_001001937.1:c.949C>A	NP_001001937.1:p.Gln317Lys
NM_001257334.1:c.883C>A	NP_001244263.1:p.Gln295Lys
NM_001257335.1:c.799C>A	NP_001244264.1:p.Gln267Lys
NM_004046.5:c.949C>A	NP_004037.1:p.Gln317Lys
XM_011526018.1:c.799C>A	XP_011524320.1:p.Gln267Lys
XM_017025789.1:c.949C>A	XP_016881278.1:p.Gln317Lys
NM_004046.6:c.949C>A MANE Select	NP_004037.1:p.Gln317Lys
NM_001001935.3:c.799C>A	NP_001001935.1:p.Gln267Lys
NM_001257334.2:c.883C>A	NP_001244263.1:p.Gln295Lys
NM_001001937.2:c.949C>A	NP_001001937.1:p.Gln317Lys
NM_001257335.2:c.799C>A	NP_001244264.1:p.Gln267Lys