Canonical Allele Identifier: CA402355231

Gene: ATP5F1A

Linked Data

• MyVariant Identifiers: chr18:g.43667356C>T (hg19) ; chr18:g.46087390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087390C>T , CM000680.2:g.46087390C>T	GRCh38
NC_000018.9:g.43667356C>T , CM000680.1:g.43667356C>T	GRCh37
NC_000018.8:g.41921354C>T	NCBI36
NG_041769.1:g.21844G>A
NG_041769.2:g.26844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.902G>A MANE Select	ENSP00000381736.5:p.Arg301Lys
ENST00000282050.6:c.902G>A	ENSP00000282050.2:p.Arg301Lys
ENST00000398752.10:c.902G>A	ENSP00000381736.5:p.Arg301Lys
ENST00000586523.1:n.1307G>A
ENST00000586592.5:c.*965G>A	ENSP00000466275.3:n.*965G>A
ENST00000590156.5:c.*798G>A	ENSP00000466309.1:n.*798G>A
ENST00000590665.5:c.836G>A	ENSP00000467037.1:p.Arg279Lys
ENST00000592364.5:c.227-326G>A	ENSP00000468618.1:n.227-326G>A
ENST00000593152.6:c.752G>A	ENSP00000465477.2:p.Arg251Lys
NM_001001935.2:c.752G>A	NP_001001935.1:p.Arg251Lys
NM_001001937.1:c.902G>A	NP_001001937.1:p.Arg301Lys
NM_001257334.1:c.836G>A	NP_001244263.1:p.Arg279Lys
NM_001257335.1:c.752G>A	NP_001244264.1:p.Arg251Lys
NM_004046.5:c.902G>A	NP_004037.1:p.Arg301Lys
XM_011526018.1:c.752G>A	XP_011524320.1:p.Arg251Lys
XM_017025789.1:c.902G>A	XP_016881278.1:p.Arg301Lys
NM_004046.6:c.902G>A MANE Select	NP_004037.1:p.Arg301Lys
NM_001001935.3:c.752G>A	NP_001001935.1:p.Arg251Lys
NM_001257334.2:c.836G>A	NP_001244263.1:p.Arg279Lys
NM_001001937.2:c.902G>A	NP_001001937.1:p.Arg301Lys
NM_001257335.2:c.752G>A	NP_001244264.1:p.Arg251Lys