Canonical Allele Identifier: CA402355527

Gene: ATP5F1A

Linked Data

• gnomAD v4: 18-46087454-A-G
• MyVariant Identifiers: chr18:g.43667420A>G (hg19) ; chr18:g.46087454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087454A>G , CM000680.2:g.46087454A>G	GRCh38
NC_000018.9:g.43667420A>G , CM000680.1:g.43667420A>G	GRCh37
NC_000018.8:g.41921418A>G	NCBI36
NG_041769.1:g.21780T>C
NG_041769.2:g.26780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.838T>C MANE Select	ENSP00000381736.5:p.Ser280Pro
ENST00000282050.6:c.838T>C	ENSP00000282050.2:p.Ser280Pro
ENST00000398752.10:c.838T>C	ENSP00000381736.5:p.Ser280Pro
ENST00000586523.1:n.1243T>C
ENST00000586592.5:c.*901T>C	ENSP00000466275.3:n.*901T>C
ENST00000589252.5:c.571T>C	ENSP00000466975.1:p.Ser191Pro
ENST00000590156.5:c.*734T>C	ENSP00000466309.1:n.*734T>C
ENST00000590665.5:c.772T>C	ENSP00000467037.1:p.Ser258Pro
ENST00000592364.5:c.227-390T>C	ENSP00000468618.1:n.227-390T>C
ENST00000593152.6:c.688T>C	ENSP00000465477.2:p.Ser230Pro
NM_001001935.2:c.688T>C	NP_001001935.1:p.Ser230Pro
NM_001001937.1:c.838T>C	NP_001001937.1:p.Ser280Pro
NM_001257334.1:c.772T>C	NP_001244263.1:p.Ser258Pro
NM_001257335.1:c.688T>C	NP_001244264.1:p.Ser230Pro
NM_004046.5:c.838T>C	NP_004037.1:p.Ser280Pro
XM_011526018.1:c.688T>C	XP_011524320.1:p.Ser230Pro
XM_017025789.1:c.838T>C	XP_016881278.1:p.Ser280Pro
NM_004046.6:c.838T>C MANE Select	NP_004037.1:p.Ser280Pro
NM_001001935.3:c.688T>C	NP_001001935.1:p.Ser230Pro
NM_001257334.2:c.772T>C	NP_001244263.1:p.Ser258Pro
NM_001001937.2:c.838T>C	NP_001001937.1:p.Ser280Pro
NM_001257335.2:c.688T>C	NP_001244264.1:p.Ser230Pro