Canonical Allele Identifier: CA2655148504

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17601072G>T , CM000684.2:g.17601072G>T	GRCh38
NC_000022.10:g.18083838G>T , CM000684.1:g.18083838G>T	GRCh37
NC_000022.9:g.16463838G>T	NCBI36
NG_009214.1:g.32751C>A
NG_009214.2:g.32751C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.366+20C>A MANE Select	NP_001687.1:n.366+20C>A
ENST00000253413.10:c.366+20C>A MANE Select	ENSP00000253413.5:n.366+20C>A
NM_001039366.1:c.300+20C>A	NP_001034455.1:n.300+20C>A
NM_001039367.1:c.277-977C>A	NP_001034456.1:n.277-977C>A
NM_001696.3:c.366+20C>A	NP_001687.1:n.366+20C>A
ENST00000253413.9:c.366+20C>A	ENSP00000253413.5:n.366+20C>A
ENST00000399796.6:c.277-977C>A	ENSP00000382694.2:n.277-977C>A
ENST00000399798.6:c.300+20C>A	ENSP00000382696.2:n.300+20C>A
ENST00000413576.1:c.369+20C>A	ENSP00000398932.1:n.369+20C>A
ENST00000481365.5:n.335+20C>A
ENST00000484653.5:n.355C>A