Canonical Allele Identifier: CA10090167

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17612851C>T , CM000684.2:g.17612851C>T	GRCh38
NC_000022.10:g.18095617C>T , CM000684.1:g.18095617C>T	GRCh37
NC_000022.9:g.16475617C>T	NCBI36
NG_009214.1:g.20972G>A
NG_009214.2:g.20972G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.237G>A MANE Select	NP_001687.1:p.Ala79=
ENST00000253413.10:c.237G>A MANE Select	ENSP00000253413.5:p.Ala79=
NM_001039366.1:c.171G>A	NP_001034455.1:p.Ala57=
NM_001039367.1:c.237G>A	NP_001034456.1:p.Ala79=
NM_001696.3:c.237G>A	NP_001687.1:p.Ala79=
ENST00000253413.9:c.237G>A	ENSP00000253413.5:p.Ala79=
ENST00000399796.6:c.237G>A	ENSP00000382694.2:p.Ala79=
ENST00000399798.6:c.171G>A	ENSP00000382696.2:p.Ala57=
ENST00000413576.1:c.240G>A	ENSP00000398932.1:p.Ala80=
ENST00000478963.5:n.350G>A
ENST00000481365.5:n.206G>A
ENST00000484653.5:n.206G>A