Canonical Allele Identifier: CA402355267

Gene: ATP5F1A

Linked Data

• MyVariant Identifiers: chr18:g.43667371A>G (hg19) ; chr18:g.46087405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087405A>G , CM000680.2:g.46087405A>G	GRCh38
NC_000018.9:g.43667371A>G , CM000680.1:g.43667371A>G	GRCh37
NC_000018.8:g.41921369A>G	NCBI36
NG_041769.1:g.21829T>C
NG_041769.2:g.26829T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.887T>C MANE Select	ENSP00000381736.5:p.Met296Thr
ENST00000282050.6:c.887T>C	ENSP00000282050.2:p.Met296Thr
ENST00000398752.10:c.887T>C	ENSP00000381736.5:p.Met296Thr
ENST00000586523.1:n.1292T>C
ENST00000586592.5:c.*950T>C	ENSP00000466275.3:n.*950T>C
ENST00000590156.5:c.*783T>C	ENSP00000466309.1:n.*783T>C
ENST00000590665.5:c.821T>C	ENSP00000467037.1:p.Met274Thr
ENST00000592364.5:c.227-341T>C	ENSP00000468618.1:n.227-341T>C
ENST00000593152.6:c.737T>C	ENSP00000465477.2:p.Met246Thr
NM_001001935.2:c.737T>C	NP_001001935.1:p.Met246Thr
NM_001001937.1:c.887T>C	NP_001001937.1:p.Met296Thr
NM_001257334.1:c.821T>C	NP_001244263.1:p.Met274Thr
NM_001257335.1:c.737T>C	NP_001244264.1:p.Met246Thr
NM_004046.5:c.887T>C	NP_004037.1:p.Met296Thr
XM_011526018.1:c.737T>C	XP_011524320.1:p.Met246Thr
XM_017025789.1:c.887T>C	XP_016881278.1:p.Met296Thr
NM_004046.6:c.887T>C MANE Select	NP_004037.1:p.Met296Thr
NM_001001935.3:c.737T>C	NP_001001935.1:p.Met246Thr
NM_001257334.2:c.821T>C	NP_001244263.1:p.Met274Thr
NM_001001937.2:c.887T>C	NP_001001937.1:p.Met296Thr
NM_001257335.2:c.737T>C	NP_001244264.1:p.Met246Thr