Canonical Allele Identifier: CA415195150

Gene: ATP6AP1

Linked Data

• MyVariant Identifiers: chrX:g.153663623C>G (hg19) ; chrX:g.154435277C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435277C>G , CM000685.2:g.154435277C>G	GRCh38
NC_000023.10:g.153663623C>G , CM000685.1:g.153663623C>G	GRCh37
NC_000023.9:g.153316817C>G	NCBI36
NG_008954.1:g.3365C>G
NG_052807.1:g.11646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369762.7:c.975C>G MANE Select	ENSP00000358777.2:p.Phe325Leu
ENST00000439372.6:c.*937C>G	ENSP00000408317.1:n.*937C>G
ENST00000484908.2:n.1501C>G
ENST00000619046.5:c.591C>G	ENSP00000482243.2:p.Phe197Leu
ENST00000677332.1:c.910C>G	ENSP00000502914.1:n.910C>G
ENST00000677342.1:c.*253C>G	ENSP00000503173.1:n.*253C>G
ENST00000678317.1:n.1507C>G
ENST00000679241.1:c.*41C>G	ENSP00000503588.1:n.*41C>G
ENST00000369762.6:c.975C>G	ENSP00000358777.2:p.Phe325Leu
ENST00000422890.5:c.717C>G	ENSP00000398511.1:p.Phe239Leu
ENST00000429585.5:c.667C>G	ENSP00000408470.1:n.667C>G
ENST00000455205.5:c.3453C>G
ENST00000491569.5:n.1017C>G
ENST00000619046.4:c.408C>G	ENSP00000482243.1:p.Phe136Leu
NM_001183.5:c.975C>G	NP_001174.2:p.Phe325Leu
XM_011531179.1:c.408C>G	XP_011529481.1:p.Phe136Leu
NM_001183.6:c.975C>G MANE Select	NP_001174.2:p.Phe325Leu