Canonical Allele Identifier: CA1701318

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964725C>T , CM000664.2:g.70964725C>T	GRCh38
NC_000002.11:g.71191855C>T , CM000664.1:g.71191855C>T	GRCh37
NC_000002.10:g.71045363C>T	NCBI36
NG_008016.1:g.33858C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1249-11C>T (ATP6V1B1) MANE Select	NP_001683.2:n.1249-11C>T
ENST00000234396.10:c.1249-11C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:n.1249-11C>T
NM_001692.3:c.1249-11C>T (ATP6V1B1)	NP_001683.2:n.1249-11C>T
ENST00000234396.8:c.1249-11C>T (ATP6V1B1)	ENSP00000234396.4:n.1249-11C>T
ENST00000412314.5:c.1198-11C>T (ATP6V1B1)	ENSP00000388353.1:n.1198-11C>T
ENST00000432367.5:c.*527-11C>T (ATP6V1B1)	ENSP00000405114.1:n.*527-11C>T
ENST00000432367.6:c.1302-11C>T (VAX2)
ENST00000433895.1:c.64-11C>T (ATP6V1B1)	ENSP00000407840.1:n.64-11C>T
ENST00000433895.2:c.181-11C>T (ATP6V1B1)	ENSP00000407840.2:n.181-11C>T
ENST00000453130.1:c.143-16350G>A
ENST00000606025.5:c.476-22292G>A	ENSP00000475641.1:n.476-22292G>A
XM_011532907.1:c.1369-11C>T (ATP6V1B1)	XP_011531209.1:n.1369-11C>T
XM_011532907.2:c.1369-11C>T (ATP6V1B1)	XP_011531209.1:n.1369-11C>T