Canonical Allele Identifier: CA2579739362

Gene: ATP6AP1

Linked Data

• gnomAD v4: X-154435244-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435244C>T , CM000685.2:g.154435244C>T	GRCh38
NC_000023.10:g.153663590C>T , CM000685.1:g.153663590C>T	GRCh37
NC_000023.9:g.153316784C>T	NCBI36
NG_008954.1:g.3332C>T
NG_052807.1:g.11613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369762.7:c.972-30C>T MANE Select	ENSP00000358777.2:n.972-30C>T
ENST00000439372.6:c.*934-30C>T	ENSP00000408317.1:n.*934-30C>T
ENST00000484908.2:n.1498-30C>T
ENST00000619046.5:c.588-30C>T	ENSP00000482243.2:n.588-30C>T
ENST00000677332.1:c.907-30C>T	ENSP00000502914.1:n.907-30C>T
ENST00000677342.1:c.*250-30C>T	ENSP00000503173.1:n.*250-30C>T
ENST00000678317.1:n.1504-30C>T
ENST00000679241.1:c.*38-30C>T	ENSP00000503588.1:n.*38-30C>T
ENST00000369762.6:c.972-30C>T	ENSP00000358777.2:n.972-30C>T
ENST00000422890.5:c.714-30C>T	ENSP00000398511.1:n.714-30C>T
ENST00000429585.5:c.664-30C>T	ENSP00000408470.1:n.664-30C>T
ENST00000455205.5:c.3450-30C>T
ENST00000491569.5:n.1014-30C>T
ENST00000619046.4:c.405-30C>T	ENSP00000482243.1:n.405-30C>T
NM_001183.5:c.972-30C>T	NP_001174.2:n.972-30C>T
XM_011531179.1:c.405-30C>T	XP_011529481.1:n.405-30C>T
NM_001183.6:c.972-30C>T MANE Select	NP_001174.2:n.972-30C>T