Canonical Allele Identifier: CA321184014

Gene: ATP6V1E1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17599968G>C , CM000684.2:g.17599968G>C	GRCh38
NC_000022.10:g.18082734G>C , CM000684.1:g.18082734G>C	GRCh37
NC_000022.9:g.16462734G>C	NCBI36
NG_009214.1:g.33855C>G
NG_009214.2:g.33855C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001696.4:c.435+59C>G MANE Select	NP_001687.1:n.435+59C>G
ENST00000253413.10:c.435+59C>G MANE Select	ENSP00000253413.5:n.435+59C>G
NM_001039366.1:c.369+59C>G	NP_001034455.1:n.369+59C>G
NM_001039367.1:c.345+59C>G	NP_001034456.1:n.345+59C>G
NM_001696.3:c.435+59C>G	NP_001687.1:n.435+59C>G
ENST00000253413.9:c.435+59C>G	ENSP00000253413.5:n.435+59C>G
ENST00000399796.6:c.345+59C>G	ENSP00000382694.2:n.345+59C>G
ENST00000399798.6:c.369+59C>G	ENSP00000382696.2:n.369+59C>G
ENST00000413576.1:c.438+59C>G	ENSP00000398932.1:n.438+59C>G
ENST00000481365.5:n.404+59C>G