Canonical Allele Identifier: CA2659504782
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Linked Data

gnomAD v4: 2-70958020-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958020A>T , CM000664.2:g.70958020A>T GRCh38
NC_000002.11:g.71185150A>T , CM000664.1:g.71185150A>T GRCh37
NC_000002.10:g.71038658A>T NCBI36
NG_008016.1:g.27153A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234396.10:c.175-26A>T (ATP6V1B1) MANE Select ENSP00000234396.4:n.175-26A>T
ENST00000432098.2:n.341-26A>T (ATP6V1B1)
ENST00000432367.6:c.379-26A>T (VAX2)
ENST00000454446.6:c.175-26A>T (ATP6V1B1) ENSP00000408361.2:n.175-26A>T
ENST00000646783.1:c.211-26A>T (VAX2)
ENST00000234396.8:c.175-26A>T (ATP6V1B1) ENSP00000234396.4:n.175-26A>T
ENST00000412314.5:c.175-26A>T (ATP6V1B1) ENSP00000388353.1:n.175-26A>T
ENST00000432098.1:c.-186-26A>T (ATP6V1B1) ENSP00000387599.1:n.-186-26A>T
ENST00000432367.5:c.175-26A>T (ATP6V1B1) ENSP00000405114.1:n.175-26A>T
ENST00000453130.1:c.143-9645T>A
ENST00000454446.5:c.226-26A>T (ATP6V1B1) ENSP00000408361.1:n.226-26A>T
ENST00000463380.1:n.250A>T (ATP6V1B1)
ENST00000606025.5:c.476-15587T>A ENSP00000475641.1:n.476-15587T>A
NM_001692.3:c.175-26A>T (ATP6V1B1) NP_001683.2:n.175-26A>T
XM_011532907.1:c.295-26A>T (ATP6V1B1) XP_011531209.1:n.295-26A>T
NM_001692.4:c.175-26A>T (ATP6V1B1) MANE Select NP_001683.2:n.175-26A>T
XM_011532907.2:c.295-26A>T (ATP6V1B1) XP_011531209.1:n.295-26A>T