Canonical Allele Identifier: CA415195110
Gene: ATP6AP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154435273G>C , CM000685.2:g.154435273G>C GRCh38
NC_000023.10:g.153663619G>C , CM000685.1:g.153663619G>C GRCh37
NC_000023.9:g.153316813G>C NCBI36
NG_008954.1:g.3361G>C
NG_052807.1:g.11642G>C

Transcript Alleles

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