Canonical Allele Identifier: CA638290836

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17613328G>T , CM000684.2:g.17613328G>T	GRCh38
NC_000022.10:g.18096094G>T , CM000684.1:g.18096094G>T	GRCh37
NC_000022.9:g.16476094G>T	NCBI36
NG_009214.1:g.20495C>A
NG_009214.2:g.20495C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.100-8C>A MANE Select	NP_001687.1:n.100-8C>A
ENST00000253413.10:c.100-8C>A MANE Select	ENSP00000253413.5:n.100-8C>A
NM_001039366.1:c.34-8C>A	NP_001034455.1:n.34-8C>A
NM_001039367.1:c.100-8C>A	NP_001034456.1:n.100-8C>A
NM_001696.3:c.100-8C>A	NP_001687.1:n.100-8C>A
ENST00000253413.9:c.100-8C>A	ENSP00000253413.5:n.100-8C>A
ENST00000399796.6:c.100-8C>A	ENSP00000382694.2:n.100-8C>A
ENST00000399798.6:c.34-8C>A	ENSP00000382696.2:n.34-8C>A
ENST00000413576.1:c.103-8C>A	ENSP00000398932.1:n.103-8C>A
ENST00000460085.1:n.214-8C>A
ENST00000478963.5:n.213-8C>A
ENST00000481365.5:n.69-8C>A
ENST00000484653.5:n.69-8C>A