Canonical Allele Identifier: CA8576616

Gene: ATP6V0A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42514360G>A , CM000679.2:g.42514360G>A	GRCh38
NC_000017.10:g.40666378G>A , CM000679.1:g.40666378G>A	GRCh37
NC_000017.9:g.37919904G>A	NCBI36
NG_047037.1:g.60517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586201.6:c.2248+382G>A	ENSP00000468177.2:n.2248+382G>A
ENST00000588138.2:c.2395G>A	ENSP00000466852.2:p.Val799Met
ENST00000588901.6:c.*2043G>A	ENSP00000468001.1:n.*2043G>A
ENST00000589759.2:c.*2209G>A	ENSP00000515532.1:n.*2209G>A
ENST00000592324.2:c.2443G>A	ENSP00000466767.2:p.Val815Met
ENST00000703888.1:c.2446G>A	ENSP00000515525.1:p.Val816Met
ENST00000703889.1:c.2269+382G>A	ENSP00000515526.1:n.2269+382G>A
ENST00000703890.1:c.2320G>A	ENSP00000515527.1:p.Val774Met
ENST00000703891.1:c.*2015G>A	ENSP00000515528.1:n.*2015G>A
ENST00000703892.1:c.2341G>A	ENSP00000515529.1:p.Val781Met
ENST00000703893.1:c.2212G>A	ENSP00000515530.1:p.Val738Met
ENST00000703894.1:c.2416G>A	ENSP00000515531.1:p.Val806Met
ENST00000703895.1:c.*2018G>A	ENSP00000515533.1:n.*2018G>A
ENST00000703896.1:c.*285G>A	ENSP00000515534.1:n.*285G>A
ENST00000703897.1:c.2110G>A	ENSP00000515535.1:p.Val704Met
ENST00000703898.1:c.2320G>A	ENSP00000515536.1:p.Val774Met
ENST00000703899.1:c.*118G>A	ENSP00000515537.1:n.*118G>A
ENST00000703900.1:c.2194G>A	ENSP00000515538.1:p.Val732Met
ENST00000703901.1:c.2320G>A	ENSP00000515539.1:p.Val774Met
ENST00000703902.1:c.2320G>A	ENSP00000515540.1:p.Val774Met
ENST00000703903.1:c.1138G>A	ENSP00000515541.1:p.Val380Met
ENST00000343619.9:c.2320G>A MANE Select	ENSP00000342951.3:p.Val774Met
ENST00000264649.10:c.2323G>A	ENSP00000264649.5:p.Val775Met
ENST00000343619.8:c.2320G>A	ENSP00000342951.3:p.Val774Met
ENST00000393829.6:c.2302G>A	ENSP00000377415.2:p.Val768Met
ENST00000537728.5:c.2173G>A	ENSP00000443991.1:p.Val725Met
ENST00000544137.5:c.1258G>A	ENSP00000446377.1:p.Val420Met
ENST00000585525.5:c.2191G>A	ENSP00000466878.1:p.Val731Met
ENST00000585828.5:n.483G>A
ENST00000586201.5:c.463+382G>A	ENSP00000468177.1:n.463+382G>A
ENST00000588138.1:c.454G>A	ENSP00000466852.1:p.Val152Met
ENST00000588806.1:n.609G>A
NM_001130020.1:c.2323G>A	NP_001123492.1:p.Val775Met
NM_001130021.1:c.2320G>A	NP_001123493.1:p.Val774Met
NM_005177.3:c.2302G>A	NP_005168.2:p.Val768Met
XM_005257459.1:c.2341G>A	XP_005257516.1:p.Val781Met
XM_005257461.1:c.2269+382G>A	XP_005257518.1:n.2269+382G>A
XM_005257463.1:c.2251+382G>A	XP_005257520.1:n.2251+382G>A
XM_011524908.1:c.2215G>A	XP_011523210.1:p.Val739Met
XR_934483.1:n.2490G>A
XR_934484.1:n.2490G>A
XM_005257459.2:c.2341G>A	XP_005257516.1:p.Val781Met
XM_005257461.2:c.2269+382G>A	XP_005257518.1:n.2269+382G>A
XM_005257463.3:c.2251+382G>A	XP_005257520.1:n.2251+382G>A
XM_011524908.2:c.2215G>A	XP_011523210.1:p.Val739Met
XM_017024769.1:c.2194G>A	XP_016880258.1:p.Val732Met
XM_017024770.1:c.2248+382G>A	XP_016880259.1:n.2248+382G>A
XM_017024771.1:c.2230+382G>A	XP_016880260.1:n.2230+382G>A
XM_017024772.2:c.1552G>A	XP_016880261.1:p.Val518Met
XM_017024773.2:c.1552G>A	XP_016880262.1:p.Val518Met
XM_017024774.2:c.1534G>A	XP_016880263.1:p.Val512Met
XR_001752538.2:n.2460G>A
XR_001752539.1:n.2453G>A
XR_002958025.1:n.2770G>A
XR_002958026.1:n.2745G>A
XR_002958027.1:n.2435G>A
XR_002958028.1:n.2327G>A
XR_002958029.1:n.2760G>A
XR_002958030.1:n.2423G>A
XR_934483.3:n.2478G>A
XR_934484.3:n.2478G>A
NM_001130020.2:c.2323G>A	NP_001123492.1:p.Val775Met
NM_001130021.2:c.2320G>A	NP_001123493.1:p.Val774Met
NM_005177.4:c.2302G>A	NP_005168.2:p.Val768Met
NM_001130020.3:c.2323G>A	NP_001123492.1:p.Val775Met
NM_001130021.3:c.2320G>A MANE Select	NP_001123493.1:p.Val774Met
NM_001378522.1:c.2341G>A	NP_001365451.1:p.Val781Met
NM_001378523.1:c.2215G>A	NP_001365452.1:p.Val739Met
NM_001378530.1:c.2518G>A	NP_001365459.1:p.Val840Met
NM_001378531.1:c.2464G>A	NP_001365460.1:p.Val822Met
NM_001378532.1:c.2446G>A	NP_001365461.1:p.Val816Met
NM_001378533.1:c.2443G>A	NP_001365462.1:p.Val815Met
NM_001378534.1:c.2416G>A	NP_001365463.1:p.Val806Met
NM_001378535.1:c.2395G>A	NP_001365464.1:p.Val799Met
NM_001378536.1:c.2212G>A	NP_001365465.1:p.Val738Met
NM_001378537.1:c.2194G>A	NP_001365466.1:p.Val732Met
NM_001378538.1:c.2191G>A	NP_001365467.1:p.Val731Met
NM_001378539.1:c.2269+382G>A	NP_001365468.1:n.2269+382G>A
NM_001378540.1:c.2173G>A	NP_001365469.1:p.Val725Met
NM_001378541.1:c.2251+382G>A	NP_001365470.1:n.2251+382G>A
NM_001378542.1:c.2248+382G>A	NP_001365471.1:n.2248+382G>A
NM_001378543.1:c.2143G>A	NP_001365472.1:p.Val715Met
NM_001378544.1:c.2230+382G>A	NP_001365473.1:n.2230+382G>A
NM_001378545.1:c.2110G>A	NP_001365474.1:p.Val704Met
NM_001378546.1:c.2107G>A	NP_001365475.1:p.Val703Met
NM_001378547.1:c.2089G>A	NP_001365476.1:p.Val697Met
NM_001378548.1:c.2074G>A	NP_001365477.1:p.Val692Met
NM_001378549.1:c.2140G>A	NP_001365478.1:p.Val714Met
NM_001378550.1:c.2194G>A	NP_001365479.1:p.Val732Met
NM_001378551.1:c.2425G>A	NP_001365480.1:p.Val809Met
NM_001378552.1:c.2353+382G>A	NP_001365481.1:n.2353+382G>A
NM_001378554.1:c.2092G>A	NP_001365483.1:p.Val698Met
NM_001378556.1:c.2122+382G>A	NP_001365485.1:n.2122+382G>A
NM_001378557.1:c.2122+382G>A	NP_001365486.1:n.2122+382G>A
NM_005177.5:c.2302G>A	NP_005168.2:p.Val768Met