Canonical Allele Identifier: CA1701333
Community Standard Title: NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70964819C>T , CM000664.2:g.70964819C>T GRCh38
NC_000002.11:g.71191949C>T , CM000664.1:g.71191949C>T GRCh37
NC_000002.10:g.71045457C>T NCBI36
NG_008016.1:g.33952C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001692.4:c.1332C>T (ATP6V1B1) MANE Select NP_001683.2:p.Leu444=
ENST00000234396.10:c.1332C>T (ATP6V1B1) MANE Select ENSP00000234396.4:p.Leu444=
NM_001692.3:c.1332C>T (ATP6V1B1) NP_001683.2:p.Leu444=
ENST00000234396.8:c.1332C>T (ATP6V1B1) ENSP00000234396.4:p.Leu444=
ENST00000412314.5:c.1281C>T (ATP6V1B1) ENSP00000388353.1:p.Leu427=
ENST00000432367.5:c.*610C>T (ATP6V1B1) ENSP00000405114.1:n.*610C>T
ENST00000432367.6:c.1385C>T (VAX2)
ENST00000433895.1:c.147C>T (ATP6V1B1) ENSP00000407840.1:p.Leu49=
ENST00000433895.2:c.264C>T (ATP6V1B1) ENSP00000407840.2:p.Leu88=
ENST00000453130.1:c.143-16444G>A
ENST00000606025.5:c.476-22386G>A ENSP00000475641.1:n.476-22386G>A
XM_011532907.1:c.1452C>T (ATP6V1B1) XP_011531209.1:p.Leu484=
XM_011532907.2:c.1452C>T (ATP6V1B1) XP_011531209.1:p.Leu484=