Canonical Allele Identifier: CA1701083
Community Standard Title: NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=)
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70960060C>T , CM000664.2:g.70960060C>T GRCh38
NC_000002.11:g.71187190C>T , CM000664.1:g.71187190C>T GRCh37
NC_000002.10:g.71040698C>T NCBI36
NG_008016.1:g.29193C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001692.4:c.567C>T (ATP6V1B1) MANE Select NP_001683.2:p.Ala189=
ENST00000234396.10:c.567C>T (ATP6V1B1) MANE Select ENSP00000234396.4:p.Ala189=
NM_001692.3:c.567C>T (ATP6V1B1) NP_001683.2:p.Ala189=
ENST00000234396.8:c.567C>T (ATP6V1B1) ENSP00000234396.4:p.Ala189=
ENST00000412314.5:c.567C>T (ATP6V1B1) ENSP00000388353.1:p.Ala189=
ENST00000432098.1:c.207C>T (ATP6V1B1) ENSP00000387599.1:p.Ala69=
ENST00000432098.2:n.733C>T (ATP6V1B1)
ENST00000432367.5:c.567C>T (ATP6V1B1) ENSP00000405114.1:p.Ala189=
ENST00000432367.6:c.771C>T (VAX2)
ENST00000453130.1:c.143-11685G>A
ENST00000454446.5:c.618C>T (ATP6V1B1) ENSP00000408361.1:p.Ala206=
ENST00000454446.6:c.567C>T (ATP6V1B1) ENSP00000408361.2:p.Ala189=
ENST00000495118.1:n.122C>T (ATP6V1B1)
ENST00000606025.5:c.476-17627G>A ENSP00000475641.1:n.476-17627G>A
ENST00000646783.1:c.603C>T (VAX2)
XM_011532907.1:c.687C>T (ATP6V1B1) XP_011531209.1:p.Ala229=
XM_011532907.2:c.687C>T (ATP6V1B1) XP_011531209.1:p.Ala229=