Canonical Allele Identifier: CA399578551

Gene: ATP6V0A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42501249T>C , CM000679.2:g.42501249T>C	GRCh38
NC_000017.10:g.40653267T>C , CM000679.1:g.40653267T>C	GRCh37
NC_000017.9:g.37906793T>C	NCBI36
NG_047037.1:g.47406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586201.6:c.1949T>C	ENSP00000468177.2:p.Met650Thr
ENST00000588138.2:c.1949T>C	ENSP00000466852.2:p.Met650Thr
ENST00000588901.6:c.*1672T>C	ENSP00000468001.1:n.*1672T>C
ENST00000589759.2:c.*1838T>C	ENSP00000515532.1:n.*1838T>C
ENST00000592324.2:c.2072T>C	ENSP00000466767.2:p.Met691Thr
ENST00000703888.1:c.2093T>C	ENSP00000515525.1:p.Met698Thr
ENST00000703889.1:c.1970T>C	ENSP00000515526.1:p.Met657Thr
ENST00000703890.1:c.1949T>C	ENSP00000515527.1:p.Met650Thr
ENST00000703891.1:c.*1644T>C	ENSP00000515528.1:n.*1644T>C
ENST00000703892.1:c.1970T>C	ENSP00000515529.1:p.Met657Thr
ENST00000703893.1:c.1841T>C	ENSP00000515530.1:p.Met614Thr
ENST00000703894.1:c.1970T>C	ENSP00000515531.1:p.Met657Thr
ENST00000703895.1:c.*1647T>C	ENSP00000515533.1:n.*1647T>C
ENST00000703896.1:c.1952T>C	ENSP00000515534.1:p.Met651Thr
ENST00000703897.1:c.1739T>C	ENSP00000515535.1:p.Met580Thr
ENST00000703898.1:c.1949T>C	ENSP00000515536.1:p.Met650Thr
ENST00000703899.1:c.1949T>C	ENSP00000515537.1:p.Met650Thr
ENST00000703900.1:c.1823T>C	ENSP00000515538.1:p.Met608Thr
ENST00000703901.1:c.1949T>C	ENSP00000515539.1:p.Met650Thr
ENST00000703902.1:c.1949T>C	ENSP00000515540.1:p.Met650Thr
ENST00000703903.1:c.767T>C	ENSP00000515541.1:p.Met256Thr
ENST00000343619.9:c.1949T>C MANE Select	ENSP00000342951.3:p.Met650Thr
ENST00000264649.10:c.1970T>C	ENSP00000264649.5:p.Met657Thr
ENST00000343619.8:c.1949T>C	ENSP00000342951.3:p.Met650Thr
ENST00000393829.6:c.1949T>C	ENSP00000377415.2:p.Met650Thr
ENST00000537728.5:c.1820T>C	ENSP00000443991.1:p.Met607Thr
ENST00000544137.5:c.887T>C	ENSP00000446377.1:p.Met296Thr
ENST00000585525.5:c.1820T>C	ENSP00000466878.1:p.Met607Thr
ENST00000586201.5:c.164T>C	ENSP00000468177.1:p.Met55Thr
ENST00000587510.5:c.195T>C
ENST00000588138.1:c.8T>C	ENSP00000466852.1:p.Met3Thr
NM_001130020.1:c.1970T>C	NP_001123492.1:p.Met657Thr
NM_001130021.1:c.1949T>C	NP_001123493.1:p.Met650Thr
NM_005177.3:c.1949T>C	NP_005168.2:p.Met650Thr
XM_005257459.1:c.1970T>C	XP_005257516.1:p.Met657Thr
XM_005257461.1:c.1970T>C	XP_005257518.1:p.Met657Thr
XM_005257463.1:c.1970T>C	XP_005257520.1:p.Met657Thr
XM_011524908.1:c.1970T>C	XP_011523210.1:p.Met657Thr
XR_934483.1:n.2119T>C
XR_934484.1:n.2119T>C
XM_005257459.2:c.1970T>C	XP_005257516.1:p.Met657Thr
XM_005257461.2:c.1970T>C	XP_005257518.1:p.Met657Thr
XM_005257463.3:c.1970T>C	XP_005257520.1:p.Met657Thr
XM_011524908.2:c.1970T>C	XP_011523210.1:p.Met657Thr
XM_017024769.1:c.1949T>C	XP_016880258.1:p.Met650Thr
XM_017024770.1:c.1949T>C	XP_016880259.1:p.Met650Thr
XM_017024771.1:c.1949T>C	XP_016880260.1:p.Met650Thr
XM_017024772.2:c.1181T>C	XP_016880261.1:p.Met394Thr
XM_017024773.2:c.1181T>C	XP_016880262.1:p.Met394Thr
XM_017024774.2:c.1181T>C	XP_016880263.1:p.Met394Thr
XR_001752538.2:n.2107T>C
XR_001752539.1:n.2082T>C
XR_001752540.2:n.2107T>C
XR_002958025.1:n.2107T>C
XR_002958026.1:n.2082T>C
XR_002958027.1:n.2082T>C
XR_002958028.1:n.2082T>C
XR_002958029.1:n.2097T>C
XR_002958030.1:n.1760T>C
XR_934483.3:n.2107T>C
XR_934484.3:n.2107T>C
NM_001130020.2:c.1970T>C	NP_001123492.1:p.Met657Thr
NM_001130021.2:c.1949T>C	NP_001123493.1:p.Met650Thr
NM_005177.4:c.1949T>C	NP_005168.2:p.Met650Thr
NM_001130020.3:c.1970T>C	NP_001123492.1:p.Met657Thr
NM_001130021.3:c.1949T>C MANE Select	NP_001123493.1:p.Met650Thr
NM_001378522.1:c.1970T>C	NP_001365451.1:p.Met657Thr
NM_001378523.1:c.1970T>C	NP_001365452.1:p.Met657Thr
NM_001378530.1:c.2072T>C	NP_001365459.1:p.Met691Thr
NM_001378531.1:c.2093T>C	NP_001365460.1:p.Met698Thr
NM_001378532.1:c.2093T>C	NP_001365461.1:p.Met698Thr
NM_001378533.1:c.2072T>C	NP_001365462.1:p.Met691Thr
NM_001378534.1:c.1970T>C	NP_001365463.1:p.Met657Thr
NM_001378535.1:c.1949T>C	NP_001365464.1:p.Met650Thr
NM_001378536.1:c.1841T>C	NP_001365465.1:p.Met614Thr
NM_001378537.1:c.1949T>C	NP_001365466.1:p.Met650Thr
NM_001378538.1:c.1820T>C	NP_001365467.1:p.Met607Thr
NM_001378539.1:c.1970T>C	NP_001365468.1:p.Met657Thr
NM_001378540.1:c.1820T>C	NP_001365469.1:p.Met607Thr
NM_001378541.1:c.1970T>C	NP_001365470.1:p.Met657Thr
NM_001378542.1:c.1949T>C	NP_001365471.1:p.Met650Thr
NM_001378543.1:c.1790T>C	NP_001365472.1:p.Met597Thr
NM_001378544.1:c.1949T>C	NP_001365473.1:p.Met650Thr
NM_001378545.1:c.1739T>C	NP_001365474.1:p.Met580Thr
NM_001378546.1:c.1736T>C	NP_001365475.1:p.Met579Thr
NM_001378547.1:c.1736T>C	NP_001365476.1:p.Met579Thr
NM_001378548.1:c.1703T>C	NP_001365477.1:p.Met568Thr
NM_001378549.1:c.1769T>C	NP_001365478.1:p.Met590Thr
NM_001378550.1:c.1841T>C	NP_001365479.1:p.Met614Thr
NM_001378551.1:c.2072T>C	NP_001365480.1:p.Met691Thr
NM_001378552.1:c.2072T>C	NP_001365481.1:p.Met691Thr
NM_001378554.1:c.1739T>C	NP_001365483.1:p.Met580Thr
NM_001378556.1:c.1841T>C	NP_001365485.1:p.Met614Thr
NM_001378557.1:c.1949T>C	NP_001365486.1:p.Met650Thr
NM_005177.5:c.1949T>C	NP_005168.2:p.Met650Thr