Canonical Allele Identifier: CA10562630

Gene: ATP6AP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154432441G>A , CM000685.2:g.154432441G>A	GRCh38
NC_000023.10:g.153660787G>A , CM000685.1:g.153660787G>A	GRCh37
NC_000023.9:g.153313981G>A	NCBI36
NG_008954.1:g.529G>A
NG_052807.1:g.8810G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001183.6:c.539G>A MANE Select	NP_001174.2:p.Arg180His
ENST00000369762.7:c.539G>A MANE Select	ENSP00000358777.2:p.Arg180His
NM_001183.5:c.539G>A	NP_001174.2:p.Arg180His
ENST00000369762.6:c.539G>A	ENSP00000358777.2:p.Arg180His
ENST00000422890.5:c.474+65G>A	ENSP00000398511.1:n.474+65G>A
ENST00000429585.5:c.315+537G>A	ENSP00000408470.1:n.315+537G>A
ENST00000439372.6:c.*501G>A	ENSP00000408317.1:n.*501G>A
ENST00000449556.5:c.539G>A	ENSP00000392375.1:p.Arg180His
ENST00000455205.5:c.3017G>A
ENST00000484908.1:n.359G>A
ENST00000484908.2:n.1065G>A
ENST00000491569.5:n.581G>A
ENST00000619046.4:c.-29G>A	ENSP00000482243.1:n.-29G>A
ENST00000619046.5:c.173+126G>A	ENSP00000482243.2:n.173+126G>A
ENST00000677332.1:c.430G>A	ENSP00000502914.1:n.430G>A
ENST00000677342.1:c.539G>A	ENSP00000503173.1:p.Arg180His
ENST00000678317.1:n.379G>A
ENST00000679241.1:c.539G>A	ENSP00000503588.1:p.Arg180His
XM_011531179.1:c.-29G>A	XP_011529481.1:n.-29G>A