Canonical Allele Identifier: CA347189267

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964965C>G , CM000664.2:g.70964965C>G	GRCh38
NC_000002.11:g.71192095C>G , CM000664.1:g.71192095C>G	GRCh37
NC_000002.10:g.71045603C>G	NCBI36
NG_008016.1:g.34098C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1386C>G (ATP6V1B1) MANE Select	NP_001683.2:p.Tyr462Ter
ENST00000234396.10:c.1386C>G (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Tyr462Ter
NM_001692.3:c.1386C>G (ATP6V1B1)	NP_001683.2:p.Tyr462Ter
ENST00000234396.8:c.1386C>G (ATP6V1B1)	ENSP00000234396.4:p.Tyr462Ter
ENST00000412314.5:c.1335C>G (ATP6V1B1)	ENSP00000388353.1:p.Tyr445Ter
ENST00000432367.5:c.*664C>G (ATP6V1B1)	ENSP00000405114.1:n.*664C>G
ENST00000432367.6:c.1439C>G (VAX2)
ENST00000433895.1:c.201C>G (ATP6V1B1)	ENSP00000407840.1:p.Tyr67Ter
ENST00000433895.2:c.318C>G (ATP6V1B1)	ENSP00000407840.2:p.Tyr106Ter
ENST00000453130.1:c.143-16590G>C
ENST00000606025.5:c.476-22532G>C	ENSP00000475641.1:n.476-22532G>C
XM_011532907.1:c.1506C>G (ATP6V1B1)	XP_011531209.1:p.Tyr502Ter
XM_011532907.2:c.1506C>G (ATP6V1B1)	XP_011531209.1:p.Tyr502Ter