Canonical Allele Identifier: CA8950705

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs778135381
• ExAC: 18:43667431 G / A
• gnomAD v2: 18-43667431-G-A
• gnomAD v4: 18-46087465-G-A
• MyVariant Identifiers: chr18:g.43667431G>A (hg19) ; chr18:g.46087465G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087465G>A , CM000680.2:g.46087465G>A	GRCh38
NC_000018.9:g.43667431G>A , CM000680.1:g.43667431G>A	GRCh37
NC_000018.8:g.41921429G>A	NCBI36
NG_041769.1:g.21769C>T
NG_041769.2:g.26769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.827C>T MANE Select	ENSP00000381736.5:p.Ser276Leu
ENST00000282050.6:c.827C>T	ENSP00000282050.2:p.Ser276Leu
ENST00000398752.10:c.827C>T	ENSP00000381736.5:p.Ser276Leu
ENST00000586523.1:n.1232C>T
ENST00000586592.5:c.*890C>T	ENSP00000466275.3:n.*890C>T
ENST00000589252.5:c.560C>T	ENSP00000466975.1:p.Ser187Leu
ENST00000590156.5:c.*723C>T	ENSP00000466309.1:n.*723C>T
ENST00000590665.5:c.761C>T	ENSP00000467037.1:p.Ser254Leu
ENST00000592364.5:c.227-401C>T	ENSP00000468618.1:n.227-401C>T
ENST00000593152.6:c.677C>T	ENSP00000465477.2:p.Ser226Leu
NM_001001935.2:c.677C>T	NP_001001935.1:p.Ser226Leu
NM_001001937.1:c.827C>T	NP_001001937.1:p.Ser276Leu
NM_001257334.1:c.761C>T	NP_001244263.1:p.Ser254Leu
NM_001257335.1:c.677C>T	NP_001244264.1:p.Ser226Leu
NM_004046.5:c.827C>T	NP_004037.1:p.Ser276Leu
XM_011526018.1:c.677C>T	XP_011524320.1:p.Ser226Leu
XM_017025789.1:c.827C>T	XP_016881278.1:p.Ser276Leu
NM_004046.6:c.827C>T MANE Select	NP_004037.1:p.Ser276Leu
NM_001001935.3:c.677C>T	NP_001001935.1:p.Ser226Leu
NM_001257334.2:c.761C>T	NP_001244263.1:p.Ser254Leu
NM_001001937.2:c.827C>T	NP_001001937.1:p.Ser276Leu
NM_001257335.2:c.677C>T	NP_001244264.1:p.Ser226Leu