Canonical Allele Identifier: CA402355169

Gene: ATP5F1A

Linked Data

• MyVariant Identifiers: chr18:g.43667330T>G (hg19) ; chr18:g.46087364T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087364T>G , CM000680.2:g.46087364T>G	GRCh38
NC_000018.9:g.43667330T>G , CM000680.1:g.43667330T>G	GRCh37
NC_000018.8:g.41921328T>G	NCBI36
NG_041769.1:g.21870A>C
NG_041769.2:g.26870A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.928A>C MANE Select	ENSP00000381736.5:p.Ile310Leu
ENST00000282050.6:c.928A>C	ENSP00000282050.2:p.Ile310Leu
ENST00000398752.10:c.928A>C	ENSP00000381736.5:p.Ile310Leu
ENST00000586523.1:n.1333A>C
ENST00000586592.5:c.*991A>C	ENSP00000466275.3:n.*991A>C
ENST00000590156.5:c.*824A>C	ENSP00000466309.1:n.*824A>C
ENST00000590665.5:c.862A>C	ENSP00000467037.1:p.Ile288Leu
ENST00000592364.5:c.227-300A>C	ENSP00000468618.1:n.227-300A>C
ENST00000593152.6:c.778A>C	ENSP00000465477.2:p.Ile260Leu
NM_001001935.2:c.778A>C	NP_001001935.1:p.Ile260Leu
NM_001001937.1:c.928A>C	NP_001001937.1:p.Ile310Leu
NM_001257334.1:c.862A>C	NP_001244263.1:p.Ile288Leu
NM_001257335.1:c.778A>C	NP_001244264.1:p.Ile260Leu
NM_004046.5:c.928A>C	NP_004037.1:p.Ile310Leu
XM_011526018.1:c.778A>C	XP_011524320.1:p.Ile260Leu
XM_017025789.1:c.928A>C	XP_016881278.1:p.Ile310Leu
NM_004046.6:c.928A>C MANE Select	NP_004037.1:p.Ile310Leu
NM_001001935.3:c.778A>C	NP_001001935.1:p.Ile260Leu
NM_001257334.2:c.862A>C	NP_001244263.1:p.Ile288Leu
NM_001001937.2:c.928A>C	NP_001001937.1:p.Ile310Leu
NM_001257335.2:c.778A>C	NP_001244264.1:p.Ile260Leu