Canonical Allele Identifier: CA402354915

Gene: ATP5F1A

Linked Data

• ClinVar Variation Id: 1690648
• ClinVar RCV Id: RCV002253066
• dbSNP Id: rs2144178681
• MyVariant Identifiers: chr18:g.43667158G>A (hg19) ; chr18:g.46087192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087192G>A , CM000680.2:g.46087192G>A	GRCh38
NC_000018.9:g.43667158G>A , CM000680.1:g.43667158G>A	GRCh37
NC_000018.8:g.41921156G>A	NCBI36
NG_041769.1:g.22042C>T
NG_041769.2:g.27042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.992C>T MANE Select	ENSP00000381736.5:p.Pro331Leu
ENST00000282050.6:c.992C>T	ENSP00000282050.2:p.Pro331Leu
ENST00000398752.10:c.992C>T	ENSP00000381736.5:p.Pro331Leu
ENST00000586523.1:n.1505C>T
ENST00000586592.5:c.*1055C>T	ENSP00000466275.3:n.*1055C>T
ENST00000590156.5:c.*888C>T	ENSP00000466309.1:n.*888C>T
ENST00000590665.5:c.926C>T	ENSP00000467037.1:p.Pro309Leu
ENST00000592364.5:c.227-128C>T	ENSP00000468618.1:n.227-128C>T
ENST00000593152.6:c.842C>T	ENSP00000465477.2:p.Pro281Leu
NM_001001935.2:c.842C>T	NP_001001935.1:p.Pro281Leu
NM_001001937.1:c.992C>T	NP_001001937.1:p.Pro331Leu
NM_001257334.1:c.926C>T	NP_001244263.1:p.Pro309Leu
NM_001257335.1:c.842C>T	NP_001244264.1:p.Pro281Leu
NM_004046.5:c.992C>T	NP_004037.1:p.Pro331Leu
XM_011526018.1:c.842C>T	XP_011524320.1:p.Pro281Leu
XM_017025789.1:c.992C>T	XP_016881278.1:p.Pro331Leu
NM_004046.6:c.992C>T MANE Select	NP_004037.1:p.Pro331Leu
NM_001001935.3:c.842C>T	NP_001001935.1:p.Pro281Leu
NM_001257334.2:c.926C>T	NP_001244263.1:p.Pro309Leu
NM_001001937.2:c.992C>T	NP_001001937.1:p.Pro331Leu
NM_001257335.2:c.842C>T	NP_001244264.1:p.Pro281Leu