Canonical Allele Identifier: CA402355362

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1365995441
• gnomAD v2: 18-43667393-C-G
• gnomAD v4: 18-46087427-C-G
• MyVariant Identifiers: chr18:g.43667393C>G (hg19) ; chr18:g.46087427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087427C>G , CM000680.2:g.46087427C>G	GRCh38
NC_000018.9:g.43667393C>G , CM000680.1:g.43667393C>G	GRCh37
NC_000018.8:g.41921391C>G	NCBI36
NG_041769.1:g.21807G>C
NG_041769.2:g.26807G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.865G>C MANE Select	ENSP00000381736.5:p.Ala289Pro
ENST00000282050.6:c.865G>C	ENSP00000282050.2:p.Ala289Pro
ENST00000398752.10:c.865G>C	ENSP00000381736.5:p.Ala289Pro
ENST00000586523.1:n.1270G>C
ENST00000586592.5:c.*928G>C	ENSP00000466275.3:n.*928G>C
ENST00000589252.5:c.598G>C
ENST00000590156.5:c.*761G>C	ENSP00000466309.1:n.*761G>C
ENST00000590665.5:c.799G>C	ENSP00000467037.1:p.Ala267Pro
ENST00000592364.5:c.227-363G>C	ENSP00000468618.1:n.227-363G>C
ENST00000593152.6:c.715G>C	ENSP00000465477.2:p.Ala239Pro
NM_001001935.2:c.715G>C	NP_001001935.1:p.Ala239Pro
NM_001001937.1:c.865G>C	NP_001001937.1:p.Ala289Pro
NM_001257334.1:c.799G>C	NP_001244263.1:p.Ala267Pro
NM_001257335.1:c.715G>C	NP_001244264.1:p.Ala239Pro
NM_004046.5:c.865G>C	NP_004037.1:p.Ala289Pro
XM_011526018.1:c.715G>C	XP_011524320.1:p.Ala239Pro
XM_017025789.1:c.865G>C	XP_016881278.1:p.Ala289Pro
NM_004046.6:c.865G>C MANE Select	NP_004037.1:p.Ala289Pro
NM_001001935.3:c.715G>C	NP_001001935.1:p.Ala239Pro
NM_001257334.2:c.799G>C	NP_001244263.1:p.Ala267Pro
NM_001001937.2:c.865G>C	NP_001001937.1:p.Ala289Pro
NM_001257335.2:c.715G>C	NP_001244264.1:p.Ala239Pro