Canonical Allele Identifier: CA415195122

Gene: ATP6AP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369762.7:c.973T>C MANE Select	ENSP00000358777.2:p.Phe325Leu
ENST00000439372.6:c.*935T>C	ENSP00000408317.1:n.*935T>C
ENST00000484908.2:n.1499T>C
ENST00000619046.5:c.589T>C	ENSP00000482243.2:p.Phe197Leu
ENST00000677332.1:c.908T>C	ENSP00000502914.1:n.908T>C
ENST00000677342.1:c.*251T>C	ENSP00000503173.1:n.*251T>C
ENST00000678317.1:n.1505T>C
ENST00000679241.1:c.*39T>C	ENSP00000503588.1:n.*39T>C
ENST00000369762.6:c.973T>C	ENSP00000358777.2:p.Phe325Leu
ENST00000422890.5:c.715T>C	ENSP00000398511.1:p.Phe239Leu
ENST00000429585.5:c.665T>C	ENSP00000408470.1:n.665T>C
ENST00000455205.5:c.3451T>C
ENST00000491569.5:n.1015T>C
ENST00000619046.4:c.406T>C	ENSP00000482243.1:p.Phe136Leu
NM_001183.5:c.973T>C	NP_001174.2:p.Phe325Leu
XM_011531179.1:c.406T>C	XP_011529481.1:p.Phe136Leu
NM_001183.6:c.973T>C MANE Select	NP_001174.2:p.Phe325Leu