Canonical Allele Identifier: CA299748904

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs985952835
• COSMIC: COSM6304284
• MyVariant Identifiers: chr18:g.43667332A>G (hg19) ; chr18:g.46087366A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087366A>G , CM000680.2:g.46087366A>G	GRCh38
NC_000018.9:g.43667332A>G , CM000680.1:g.43667332A>G	GRCh37
NC_000018.8:g.41921330A>G	NCBI36
NG_041769.1:g.21868T>C
NG_041769.2:g.26868T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.926T>C MANE Select	ENSP00000381736.5:p.Ile309Thr
ENST00000282050.6:c.926T>C	ENSP00000282050.2:p.Ile309Thr
ENST00000398752.10:c.926T>C	ENSP00000381736.5:p.Ile309Thr
ENST00000586523.1:n.1331T>C
ENST00000586592.5:c.*989T>C	ENSP00000466275.3:n.*989T>C
ENST00000590156.5:c.*822T>C	ENSP00000466309.1:n.*822T>C
ENST00000590665.5:c.860T>C	ENSP00000467037.1:p.Ile287Thr
ENST00000592364.5:c.227-302T>C	ENSP00000468618.1:n.227-302T>C
ENST00000593152.6:c.776T>C	ENSP00000465477.2:p.Ile259Thr
NM_001001935.2:c.776T>C	NP_001001935.1:p.Ile259Thr
NM_001001937.1:c.926T>C	NP_001001937.1:p.Ile309Thr
NM_001257334.1:c.860T>C	NP_001244263.1:p.Ile287Thr
NM_001257335.1:c.776T>C	NP_001244264.1:p.Ile259Thr
NM_004046.5:c.926T>C	NP_004037.1:p.Ile309Thr
XM_011526018.1:c.776T>C	XP_011524320.1:p.Ile259Thr
XM_017025789.1:c.926T>C	XP_016881278.1:p.Ile309Thr
NM_004046.6:c.926T>C MANE Select	NP_004037.1:p.Ile309Thr
NM_001001935.3:c.776T>C	NP_001001935.1:p.Ile259Thr
NM_001257334.2:c.860T>C	NP_001244263.1:p.Ile287Thr
NM_001001937.2:c.926T>C	NP_001001937.1:p.Ile309Thr
NM_001257335.2:c.776T>C	NP_001244264.1:p.Ile259Thr