Canonical Allele Identifier: CA415195118

Gene: ATP6AP1

Linked Data

• MyVariant Identifiers: chrX:g.153663621T>A (hg19) ; chrX:g.154435275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435275T>A , CM000685.2:g.154435275T>A	GRCh38
NC_000023.10:g.153663621T>A , CM000685.1:g.153663621T>A	GRCh37
NC_000023.9:g.153316815T>A	NCBI36
NG_008954.1:g.3363T>A
NG_052807.1:g.11644T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369762.7:c.973T>A MANE Select	ENSP00000358777.2:p.Phe325Ile
ENST00000439372.6:c.*935T>A	ENSP00000408317.1:n.*935T>A
ENST00000484908.2:n.1499T>A
ENST00000619046.5:c.589T>A	ENSP00000482243.2:p.Phe197Ile
ENST00000677332.1:c.908T>A	ENSP00000502914.1:n.908T>A
ENST00000677342.1:c.*251T>A	ENSP00000503173.1:n.*251T>A
ENST00000678317.1:n.1505T>A
ENST00000679241.1:c.*39T>A	ENSP00000503588.1:n.*39T>A
ENST00000369762.6:c.973T>A	ENSP00000358777.2:p.Phe325Ile
ENST00000422890.5:c.715T>A	ENSP00000398511.1:p.Phe239Ile
ENST00000429585.5:c.665T>A	ENSP00000408470.1:n.665T>A
ENST00000455205.5:c.3451T>A
ENST00000491569.5:n.1015T>A
ENST00000619046.4:c.406T>A	ENSP00000482243.1:p.Phe136Ile
NM_001183.5:c.973T>A	NP_001174.2:p.Phe325Ile
XM_011531179.1:c.406T>A	XP_011529481.1:p.Phe136Ile
NM_001183.6:c.973T>A MANE Select	NP_001174.2:p.Phe325Ile