Canonical Allele Identifier: CA2543827519

Gene: ATP6AP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435252A>G , CM000685.2:g.154435252A>G	GRCh38
NC_000023.10:g.153663598A>G , CM000685.1:g.153663598A>G	GRCh37
NC_000023.9:g.153316792A>G	NCBI36
NG_008954.1:g.3340A>G
NG_052807.1:g.11621A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369762.7:c.972-22A>G MANE Select	ENSP00000358777.2:n.972-22A>G
ENST00000439372.6:c.*934-22A>G	ENSP00000408317.1:n.*934-22A>G
ENST00000484908.2:n.1498-22A>G
ENST00000619046.5:c.588-22A>G	ENSP00000482243.2:n.588-22A>G
ENST00000677332.1:c.907-22A>G	ENSP00000502914.1:n.907-22A>G
ENST00000677342.1:c.*250-22A>G	ENSP00000503173.1:n.*250-22A>G
ENST00000678317.1:n.1504-22A>G
ENST00000679241.1:c.*38-22A>G	ENSP00000503588.1:n.*38-22A>G
ENST00000369762.6:c.972-22A>G	ENSP00000358777.2:n.972-22A>G
ENST00000422890.5:c.714-22A>G	ENSP00000398511.1:n.714-22A>G
ENST00000429585.5:c.664-22A>G	ENSP00000408470.1:n.664-22A>G
ENST00000455205.5:c.3450-22A>G
ENST00000491569.5:n.1014-22A>G
ENST00000619046.4:c.405-22A>G	ENSP00000482243.1:n.405-22A>G
NM_001183.5:c.972-22A>G	NP_001174.2:n.972-22A>G
XM_011531179.1:c.405-22A>G	XP_011529481.1:n.405-22A>G
NM_001183.6:c.972-22A>G MANE Select	NP_001174.2:n.972-22A>G