Canonical Allele Identifier: CA347178458
Community Standard Title: NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter)
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI
ATP6V1B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70943662C>G , CM000664.2:g.70943662C>G GRCh38
NC_000002.11:g.71170792C>G , CM000664.1:g.71170792C>G GRCh37
NC_000002.10:g.71024300C>G NCBI36
NG_008016.1:g.12795C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001692.4:c.123C>G (ATP6V1B1) MANE Select NP_001683.2:p.Tyr41Ter
ENST00000234396.10:c.123C>G (ATP6V1B1) MANE Select ENSP00000234396.4:p.Tyr41Ter
NM_001692.3:c.123C>G (ATP6V1B1) NP_001683.2:p.Tyr41Ter
NR_110273.1:n.524-1229G>C (ATP6V1B1-AS1)
NR_110274.1:n.386-1229G>C (ATP6V1B1-AS1)
ENST00000234396.8:c.123C>G (ATP6V1B1) ENSP00000234396.4:p.Tyr41Ter
ENST00000412314.5:c.123C>G (ATP6V1B1) ENSP00000388353.1:p.Tyr41Ter
ENST00000432098.1:c.-238C>G (ATP6V1B1) ENSP00000387599.1:n.-238C>G
ENST00000432098.2:n.289C>G (ATP6V1B1)
ENST00000432367.5:c.123C>G (ATP6V1B1) ENSP00000405114.1:p.Tyr41Ter
ENST00000432367.6:c.327C>G (VAX2)
ENST00000454446.5:c.174C>G (ATP6V1B1) ENSP00000408361.1:p.Tyr58Ter
ENST00000454446.6:c.123C>G (ATP6V1B1) ENSP00000408361.2:p.Tyr41Ter
ENST00000606025.5:c.476-1229G>C ENSP00000475641.1:n.476-1229G>C
ENST00000646783.1:c.159C>G (VAX2)