Canonical Allele Identifier: CA415195130

Gene: ATP6AP1

Linked Data

• MyVariant Identifiers: chrX:g.153663622T>C (hg19) ; chrX:g.154435276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435276T>C , CM000685.2:g.154435276T>C	GRCh38
NC_000023.10:g.153663622T>C , CM000685.1:g.153663622T>C	GRCh37
NC_000023.9:g.153316816T>C	NCBI36
NG_008954.1:g.3364T>C
NG_052807.1:g.11645T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369762.7:c.974T>C MANE Select	ENSP00000358777.2:p.Phe325Ser
ENST00000439372.6:c.*936T>C	ENSP00000408317.1:n.*936T>C
ENST00000484908.2:n.1500T>C
ENST00000619046.5:c.590T>C	ENSP00000482243.2:p.Phe197Ser
ENST00000677332.1:c.909T>C	ENSP00000502914.1:n.909T>C
ENST00000677342.1:c.*252T>C	ENSP00000503173.1:n.*252T>C
ENST00000678317.1:n.1506T>C
ENST00000679241.1:c.*40T>C	ENSP00000503588.1:n.*40T>C
ENST00000369762.6:c.974T>C	ENSP00000358777.2:p.Phe325Ser
ENST00000422890.5:c.716T>C	ENSP00000398511.1:p.Phe239Ser
ENST00000429585.5:c.666T>C	ENSP00000408470.1:n.666T>C
ENST00000455205.5:c.3452T>C
ENST00000491569.5:n.1016T>C
ENST00000619046.4:c.407T>C	ENSP00000482243.1:p.Phe136Ser
NM_001183.5:c.974T>C	NP_001174.2:p.Phe325Ser
XM_011531179.1:c.407T>C	XP_011529481.1:p.Phe136Ser
NM_001183.6:c.974T>C MANE Select	NP_001174.2:p.Phe325Ser