Canonical Allele Identifier: CA415195114

Gene: ATP6AP1

Linked Data

• MyVariant Identifiers: chrX:g.153663620G>T (hg19) ; chrX:g.154435274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154435274G>T , CM000685.2:g.154435274G>T	GRCh38
NC_000023.10:g.153663620G>T , CM000685.1:g.153663620G>T	GRCh37
NC_000023.9:g.153316814G>T	NCBI36
NG_008954.1:g.3362G>T
NG_052807.1:g.11643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369762.7:c.972G>T MANE Select	ENSP00000358777.2:p.Lys324Asn
ENST00000439372.6:c.*934G>T	ENSP00000408317.1:n.*934G>T
ENST00000484908.2:n.1498G>T
ENST00000619046.5:c.588G>T	ENSP00000482243.2:p.Lys196Asn
ENST00000677332.1:c.907G>T	ENSP00000502914.1:n.907G>T
ENST00000677342.1:c.*250G>T	ENSP00000503173.1:n.*250G>T
ENST00000678317.1:n.1504G>T
ENST00000679241.1:c.*38G>T	ENSP00000503588.1:n.*38G>T
ENST00000369762.6:c.972G>T	ENSP00000358777.2:p.Lys324Asn
ENST00000422890.5:c.714G>T	ENSP00000398511.1:p.Arg238Ser
ENST00000429585.5:c.664G>T	ENSP00000408470.1:n.664G>T
ENST00000455205.5:c.3450G>T
ENST00000491569.5:n.1014G>T
ENST00000619046.4:c.405G>T	ENSP00000482243.1:p.Lys135Asn
NM_001183.5:c.972G>T	NP_001174.2:p.Lys324Asn
XM_011531179.1:c.405G>T	XP_011529481.1:p.Lys135Asn
NM_001183.6:c.972G>T MANE Select	NP_001174.2:p.Lys324Asn