Canonical Allele Identifier: CA1700920
Community Standard Title: NM_001692.4(ATP6V1B1):c.174+3A>G
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI
ATP6V1B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70943716A>G , CM000664.2:g.70943716A>G GRCh38
NC_000002.11:g.71170846A>G , CM000664.1:g.71170846A>G GRCh37
NC_000002.10:g.71024354A>G NCBI36
NG_008016.1:g.12849A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001692.4:c.174+3A>G (ATP6V1B1) MANE Select NP_001683.2:n.174+3A>G
ENST00000234396.10:c.174+3A>G (ATP6V1B1) MANE Select ENSP00000234396.4:n.174+3A>G
NM_001692.3:c.174+3A>G (ATP6V1B1) NP_001683.2:n.174+3A>G
NR_110273.1:n.524-1283T>C (ATP6V1B1-AS1)
NR_110274.1:n.386-1283T>C (ATP6V1B1-AS1)
ENST00000234396.8:c.174+3A>G (ATP6V1B1) ENSP00000234396.4:n.174+3A>G
ENST00000412314.5:c.174+3A>G (ATP6V1B1) ENSP00000388353.1:n.174+3A>G
ENST00000432098.1:c.-187+3A>G (ATP6V1B1) ENSP00000387599.1:n.-187+3A>G
ENST00000432098.2:n.340+3A>G (ATP6V1B1)
ENST00000432367.5:c.174+3A>G (ATP6V1B1) ENSP00000405114.1:n.174+3A>G
ENST00000432367.6:c.378+3A>G (VAX2)
ENST00000454446.5:c.225+3A>G (ATP6V1B1) ENSP00000408361.1:n.225+3A>G
ENST00000454446.6:c.174+3A>G (ATP6V1B1) ENSP00000408361.2:n.174+3A>G
ENST00000606025.5:c.476-1283T>C ENSP00000475641.1:n.476-1283T>C
ENST00000646783.1:c.210+3A>G (VAX2)