Canonical Allele Identifier: CA399593418

Gene: ATP6V0A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42495148T>C , CM000679.2:g.42495148T>C	GRCh38
NC_000017.10:g.40647166T>C , CM000679.1:g.40647166T>C	GRCh37
NC_000017.9:g.37900692T>C	NCBI36
NG_047037.1:g.41305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586201.6:c.1429T>C	ENSP00000468177.2:p.Ser477Pro
ENST00000588138.2:c.1429T>C	ENSP00000466852.2:p.Ser477Pro
ENST00000588901.6:c.*1152T>C	ENSP00000468001.1:n.*1152T>C
ENST00000589759.2:c.*1318T>C	ENSP00000515532.1:n.*1318T>C
ENST00000592324.2:c.1552T>C	ENSP00000466767.2:p.Ser518Pro
ENST00000703888.1:c.1573T>C	ENSP00000515525.1:p.Ser525Pro
ENST00000703889.1:c.1450T>C	ENSP00000515526.1:p.Ser484Pro
ENST00000703890.1:c.1429T>C	ENSP00000515527.1:p.Ser477Pro
ENST00000703891.1:c.*1124T>C	ENSP00000515528.1:n.*1124T>C
ENST00000703892.1:c.1450T>C	ENSP00000515529.1:p.Ser484Pro
ENST00000703893.1:c.1321T>C	ENSP00000515530.1:p.Ser441Pro
ENST00000703894.1:c.1450T>C	ENSP00000515531.1:p.Ser484Pro
ENST00000703895.1:c.*1127T>C	ENSP00000515533.1:n.*1127T>C
ENST00000703896.1:c.1432T>C	ENSP00000515534.1:p.Ser478Pro
ENST00000703897.1:c.1219T>C	ENSP00000515535.1:p.Ser407Pro
ENST00000703898.1:c.1429T>C	ENSP00000515536.1:p.Ser477Pro
ENST00000703899.1:c.1429T>C	ENSP00000515537.1:p.Ser477Pro
ENST00000703900.1:c.1303T>C	ENSP00000515538.1:p.Ser435Pro
ENST00000703901.1:c.1429T>C	ENSP00000515539.1:p.Ser477Pro
ENST00000703902.1:c.1429T>C	ENSP00000515540.1:p.Ser477Pro
ENST00000703903.1:c.247T>C	ENSP00000515541.1:p.Ser83Pro
ENST00000343619.9:c.1429T>C MANE Select	ENSP00000342951.3:p.Ser477Pro
ENST00000264649.10:c.1450T>C	ENSP00000264649.5:p.Ser484Pro
ENST00000343619.8:c.1429T>C	ENSP00000342951.3:p.Ser477Pro
ENST00000393829.6:c.1429T>C	ENSP00000377415.2:p.Ser477Pro
ENST00000537728.5:c.1300T>C	ENSP00000443991.1:p.Ser434Pro
ENST00000544137.5:c.367T>C	ENSP00000446377.1:p.Ser123Pro
ENST00000585525.5:c.1300T>C	ENSP00000466878.1:p.Ser434Pro
NM_001130020.1:c.1450T>C	NP_001123492.1:p.Ser484Pro
NM_001130021.1:c.1429T>C	NP_001123493.1:p.Ser477Pro
NM_005177.3:c.1429T>C	NP_005168.2:p.Ser477Pro
XM_005257459.1:c.1450T>C	XP_005257516.1:p.Ser484Pro
XM_005257461.1:c.1450T>C	XP_005257518.1:p.Ser484Pro
XM_005257463.1:c.1450T>C	XP_005257520.1:p.Ser484Pro
XM_011524908.1:c.1450T>C	XP_011523210.1:p.Ser484Pro
XR_934483.1:n.1599T>C
XR_934484.1:n.1599T>C
XM_005257459.2:c.1450T>C	XP_005257516.1:p.Ser484Pro
XM_005257461.2:c.1450T>C	XP_005257518.1:p.Ser484Pro
XM_005257463.3:c.1450T>C	XP_005257520.1:p.Ser484Pro
XM_011524908.2:c.1450T>C	XP_011523210.1:p.Ser484Pro
XM_017024769.1:c.1429T>C	XP_016880258.1:p.Ser477Pro
XM_017024770.1:c.1429T>C	XP_016880259.1:p.Ser477Pro
XM_017024771.1:c.1429T>C	XP_016880260.1:p.Ser477Pro
XM_017024772.2:c.661T>C	XP_016880261.1:p.Ser221Pro
XM_017024773.2:c.661T>C	XP_016880262.1:p.Ser221Pro
XM_017024774.2:c.661T>C	XP_016880263.1:p.Ser221Pro
XR_001752538.2:n.1587T>C
XR_001752539.1:n.1562T>C
XR_001752540.2:n.1587T>C
XR_002958025.1:n.1587T>C
XR_002958026.1:n.1562T>C
XR_002958027.1:n.1562T>C
XR_002958028.1:n.1562T>C
XR_002958029.1:n.1577T>C
XR_002958030.1:n.1240T>C
XR_934483.3:n.1587T>C
XR_934484.3:n.1587T>C
NM_001130020.2:c.1450T>C	NP_001123492.1:p.Ser484Pro
NM_001130021.2:c.1429T>C	NP_001123493.1:p.Ser477Pro
NM_005177.4:c.1429T>C	NP_005168.2:p.Ser477Pro
NM_001130020.3:c.1450T>C	NP_001123492.1:p.Ser484Pro
NM_001130021.3:c.1429T>C MANE Select	NP_001123493.1:p.Ser477Pro
NM_001378522.1:c.1450T>C	NP_001365451.1:p.Ser484Pro
NM_001378523.1:c.1450T>C	NP_001365452.1:p.Ser484Pro
NM_001378530.1:c.1552T>C	NP_001365459.1:p.Ser518Pro
NM_001378531.1:c.1573T>C	NP_001365460.1:p.Ser525Pro
NM_001378532.1:c.1573T>C	NP_001365461.1:p.Ser525Pro
NM_001378533.1:c.1552T>C	NP_001365462.1:p.Ser518Pro
NM_001378534.1:c.1450T>C	NP_001365463.1:p.Ser484Pro
NM_001378535.1:c.1429T>C	NP_001365464.1:p.Ser477Pro
NM_001378536.1:c.1321T>C	NP_001365465.1:p.Ser441Pro
NM_001378537.1:c.1429T>C	NP_001365466.1:p.Ser477Pro
NM_001378538.1:c.1300T>C	NP_001365467.1:p.Ser434Pro
NM_001378539.1:c.1450T>C	NP_001365468.1:p.Ser484Pro
NM_001378540.1:c.1300T>C	NP_001365469.1:p.Ser434Pro
NM_001378541.1:c.1450T>C	NP_001365470.1:p.Ser484Pro
NM_001378542.1:c.1429T>C	NP_001365471.1:p.Ser477Pro
NM_001378543.1:c.1270T>C	NP_001365472.1:p.Ser424Pro
NM_001378544.1:c.1429T>C	NP_001365473.1:p.Ser477Pro
NM_001378545.1:c.1219T>C	NP_001365474.1:p.Ser407Pro
NM_001378546.1:c.1216T>C	NP_001365475.1:p.Ser406Pro
NM_001378547.1:c.1216T>C	NP_001365476.1:p.Ser406Pro
NM_001378548.1:c.1314+675T>C	NP_001365477.1:n.1314+675T>C
NM_001378549.1:c.1249T>C	NP_001365478.1:p.Ser417Pro
NM_001378550.1:c.1321T>C	NP_001365479.1:p.Ser441Pro
NM_001378551.1:c.1552T>C	NP_001365480.1:p.Ser518Pro
NM_001378552.1:c.1552T>C	NP_001365481.1:p.Ser518Pro
NM_001378554.1:c.1219T>C	NP_001365483.1:p.Ser407Pro
NM_001378556.1:c.1321T>C	NP_001365485.1:p.Ser441Pro
NM_001378557.1:c.1429T>C	NP_001365486.1:p.Ser477Pro
NM_005177.5:c.1429T>C	NP_005168.2:p.Ser477Pro