Canonical Allele Identifier: CA1701261
Community Standard Title: NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=)
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70963627C>T , CM000664.2:g.70963627C>T GRCh38
NC_000002.11:g.71190757C>T , CM000664.1:g.71190757C>T GRCh37
NC_000002.10:g.71044265C>T NCBI36
NG_008016.1:g.32760C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001692.4:c.1116C>T (ATP6V1B1) MANE Select NP_001683.2:p.Tyr372=
ENST00000234396.10:c.1116C>T (ATP6V1B1) MANE Select ENSP00000234396.4:p.Tyr372=
NM_001692.3:c.1116C>T (ATP6V1B1) NP_001683.2:p.Tyr372=
ENST00000234396.8:c.1116C>T (ATP6V1B1) ENSP00000234396.4:p.Tyr372=
ENST00000412314.5:c.1065C>T (ATP6V1B1) ENSP00000388353.1:p.Tyr355=
ENST00000432367.5:c.*394C>T (ATP6V1B1) ENSP00000405114.1:n.*394C>T
ENST00000432367.6:c.1169C>T (VAX2)
ENST00000433895.1:c.-112C>T (ATP6V1B1) ENSP00000407840.1:n.-112C>T
ENST00000433895.2:c.6C>T (ATP6V1B1) ENSP00000407840.2:p.Tyr2=
ENST00000453130.1:c.143-15252G>A
ENST00000606025.5:c.476-21194G>A ENSP00000475641.1:n.476-21194G>A
ENST00000646783.1:c.1152C>T (VAX2)
XM_011532907.1:c.1236C>T (ATP6V1B1) XP_011531209.1:p.Tyr412=
XM_011532907.2:c.1236C>T (ATP6V1B1) XP_011531209.1:p.Tyr412=