Canonical Allele Identifier: CA2580099069

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17598305C>T , CM000684.2:g.17598305C>T	GRCh38
NC_000022.10:g.18081071C>T , CM000684.1:g.18081071C>T	GRCh37
NC_000022.9:g.16461071C>T	NCBI36
NG_009214.1:g.35518G>A
NG_009214.2:g.35518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253413.10:c.436-17G>A MANE Select	ENSP00000253413.5:n.436-17G>A
ENST00000253413.9:c.436-17G>A	ENSP00000253413.5:n.436-17G>A
ENST00000399796.6:c.346-17G>A	ENSP00000382694.2:n.346-17G>A
ENST00000399798.6:c.370-17G>A	ENSP00000382696.2:n.370-17G>A
ENST00000413576.1:c.439-17G>A	ENSP00000398932.1:n.439-17G>A
ENST00000481365.5:n.405-17G>A
NM_001039366.1:c.370-17G>A	NP_001034455.1:n.370-17G>A
NM_001039367.1:c.346-17G>A	NP_001034456.1:n.346-17G>A
NM_001696.3:c.436-17G>A	NP_001687.1:n.436-17G>A
NM_001696.4:c.436-17G>A MANE Select	NP_001687.1:n.436-17G>A